Koenraad Devriendt

Koenraad Devriendt's AcademicInfluence.com Rankings

Koenraad Devriendt

Biology

#9235

World Rank

#12417

Historical Rank

Genetics

#941

World Rank

#1037

Historical Rank

biology Degrees

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Biology

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Koenraad Devriendt's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
GATA3 haplo-insufficiency causes human HDR syndrome (2000) (537)
Practical guidelines for managing patients with 22q11.2 deletion syndrome. (2011) (469)
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome (2010) (464)
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. (2000) (416)
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 (2015) (416)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia (2001) (411)
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (2003) (406)
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports (2006) (399)
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism (2008) (384)
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. (1997) (366)
The annual incidence of DiGeorge/velocardiofacial syndrome. (1998) (331)
VEGF: A modifier of the del22q11 (DiGeorge) syndrome? (2003) (307)
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (2007) (295)
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) (294)
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (2007) (283)
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (2008) (270)
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. (2012) (267)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2001) (251)
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. (1998) (241)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (2001) (226)
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. (2003) (226)
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections (2015) (220)
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. (2012) (216)
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome (2012) (215)
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. (2001) (206)
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan (2012) (202)
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. (2007) (198)
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. (2000) (190)
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. (1999) (189)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes (2007) (187)
Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders (2004) (186)
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? (1999) (184)
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. (2013) (176)
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families (2008) (176)
Guidelines for molecular karyotyping in constitutional genetic diagnosis (2007) (169)
Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis (2005) (168)
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. (2000) (160)
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. (2007) (160)
To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts (2012) (159)
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014) (153)
Human laterality disorders. (2006) (152)
MLL2 mutation spectrum in 45 patients with Kabuki syndrome (2011) (140)
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. (1997) (139)
Prenatal and pre-implantation genetic diagnosis (2016) (138)
Rare variants in NR2F2 cause congenital heart defects in humans. (2014) (138)
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. (2009) (135)
Clinical and mutational spectrum of Mowat-Wilson syndrome. (2005) (135)
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. (2000) (133)
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (1999) (129)
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism (2003) (127)
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) (2007) (125)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (2013) (123)
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (1999) (122)
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map (2004) (121)
RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions (2005) (120)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 (2013) (119)
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (2002) (117)
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome (2003) (110)
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse (2003) (109)
GATA-3 in Human T Cell Helper Type 2 Development (2004) (108)
Elements of morphology: Standard terminology for the lips, mouth, and oral region (2009) (107)
Psychotic disorders in Prader–Willi syndrome (2004) (106)
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. (2005) (105)
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2014) (101)
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management (2015) (99)
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls (2011) (99)
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. (2012) (98)
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects (2007) (98)
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. (2010) (95)
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (1997) (94)
Haploinsufficiency of TAB2 causes congenital heart defects in humans. (2010) (92)
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. (2014) (90)
A novel MSX1 mutation in hypodontia (2004) (88)
An unbiased evaluation of gene prioritization tools (2012) (86)
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot (2013) (86)
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis (2001) (85)
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism (2007) (85)
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot (2019) (82)
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. (2010) (82)
Subtelomeric imbalances in phenotypically normal individuals (2007) (81)
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis (2007) (81)
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay (2000) (79)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2011) (79)
Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations (2013) (79)
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills (2012) (79)
Diaphragmatic hernia in Denys-Drash syndrome. (1995) (77)
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors (2013) (77)
Progressive AV‐block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2‐5 Gene (2002) (77)
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies (2007) (77)
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. (2017) (76)
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. (2004) (75)
Clinical implementation of NIPT – technical and biological challenges (2016) (74)
Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome (2011) (73)
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH) (2002) (73)
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. (1999) (72)
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. (2005) (71)
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? (2006) (71)
Network Analysis of Differential Expression for the Identification of Disease-Causing Genes (2009) (70)
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder (2017) (70)
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (1999) (68)
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study (2005) (68)
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005) (65)
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients (2011) (65)
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (1998) (64)
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion (2020) (64)
Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects (2011) (64)
Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern (2016) (64)
Fetal surgery is a clinical reality. (2010) (63)
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations (2009) (62)
Interstitial telomeric sequences at the junction site of a jumping translocation (1997) (60)
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis (2016) (59)
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. (2013) (58)
Velocardiofacial Syndrome Patients with a Heterozygous Chromosome 22q11 Deletion Have Giant Platelets (1998) (58)
Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example (2013) (58)
What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH) (2007) (57)
Mathematical disabilities in children with velo-cardio-facial syndrome (2007) (57)
Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing (2018) (56)
A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum (2010) (56)
Arterial tortuosity syndrome: 40 new families and literature review (2017) (56)
Clinical and molecular genetic features of congenital spinal muscular atrophy (1996) (55)
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. (2015) (55)
Chromosome 22q11 deletion presenting as the Potter sequence. (1997) (55)
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care (2018) (54)
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. (1999) (53)
The causality of de novo copy number variants is overestimated (2011) (53)
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. (2015) (52)
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. (1997) (52)
Hydatidiform mole and triploidy: the role of genomic imprinting in placental development. (2005) (52)
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. (1995) (51)
Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations (2003) (51)
Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice (2013) (50)
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. (1999) (50)
Renal and urological tract malformations caused by a 22q11 deletion. (1996) (50)
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay (2008) (49)
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome (2009) (49)
Further delineation of the KAT6B molecular and phenotypic spectrum (2014) (49)
Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome (2001) (49)
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator (2016) (49)
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH) (2010) (48)
NPHP4 Variants Are Associated With Pleiotropic Heart Malformations (2012) (48)
The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees (1997) (48)
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2 (2011) (48)
Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene (2010) (48)
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma (2001) (47)
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects (2015) (47)
Transcription factor GATA 3 and the human HDR syndrome (47)
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation (2008) (47)
Novel syndromic form of X-linked complicated spastic paraplegia. (2000) (46)
Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome) (2007) (46)
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 (2009) (46)
Autosomal recessive primary microcephaly due to ASPM mutations: An update (2018) (46)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2009) (45)
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes‐Brocks syndrome (2006) (45)
Clinical delineation of the PACS1‐related syndrome—Report on 19 patients (2016) (45)
PEDIA: prioritization of exome data by image analysis (2018) (44)
Chromosomal Anomalies in Individuals with Autism (2004) (44)
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks (2012) (44)
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients (2016) (44)
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening (2021) (44)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia (2011) (43)
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330) (1998) (43)
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. (2008) (43)
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability (2015) (43)
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. (1996) (43)
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity (2014) (43)
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. (2014) (43)
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies (2016) (42)
Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects (2012) (42)
Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. (2012) (42)
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. (2004) (42)
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (2016) (42)
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. (1999) (41)
Unusual molecular findings in autosomal recessive spinal muscular atrophy. (1996) (41)
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). (2005) (40)
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. (1997) (40)
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. (1998) (40)
Deletion in chromosome region 22q11 in a child with CHARGE association (1998) (40)
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (2008) (40)
Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect (2015) (39)
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. (1998) (39)
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy (2013) (39)
The psychopathological phenotype of velo-cardio-facial syndrome. (2002) (39)
) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation (2003) (39)
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. (2005) (39)
Novel Mutation in the Per-Arnt-Sim Domain of KCNH2 Causes a Malignant Form of Long-QT Syndrome (2005) (39)
Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction. (1991) (39)
Familial deletions of chromosome 22q11: the Leuven experience. (1998) (39)
Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre. (2015) (39)
Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family (2003) (39)
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences (2002) (38)
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function (2015) (38)
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1 (2012) (37)
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (2013) (37)
The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? (2013) (37)
DISC1 duplication in two brothers with autism and mild mental retardation (2010) (37)
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly (2010) (37)
Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls (2013) (37)
Partial DiGeorge syndrome in two patients with a 10p rearrangement (1999) (36)
Partial duplications of the ATRX gene cause the ATR-X syndrome (2007) (36)
Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia (2010) (36)
Collaboratively charting the gene-to-phenotype network of human congenital heart defects (2010) (35)
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation (2006) (35)
The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. (1998) (35)
Disclosing incidental findings in genetics contexts: a review of the empirical ethical research. (2013) (35)
Cohen syndrome: the clinical symptoms and stigmata at a young age (1996) (35)
Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies (2006) (35)
Secondary variants – in defense of a more fitting term in the incidental findings debate (2013) (34)
Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity (2012) (34)
Vesico-ureteral reflux: a genetic condition? (1998) (34)
Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome. (1995) (34)
Identification of dosage‐sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia (2013) (34)
Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family (2003) (34)
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing (2017) (34)
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome (2010) (33)
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type (2016) (33)
Novel TBX5 Mutations in Patients with Holt-Oram Syndrome (2007) (33)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2007) (32)
Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype (2007) (32)
Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study. (2018) (32)
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age. (2001) (32)
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype (2010) (31)
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay (2016) (31)
Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos (2017) (31)
Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. (2014) (30)
Left-ventricular non-compaction in a patient with monosomy 1p36. (2007) (30)
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. (1995) (29)
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease (2012) (29)
Cerebellar Hypoplasia in a Patient with Velo‐Cardio‐Facial Syndrome (1996) (29)
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. (2005) (28)
Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome (2001) (28)
Structure of the human alpha-2 macroglobulin gene and its promotor. (1992) (27)
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. (2012) (27)
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome (2003) (27)
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. (2019) (27)
The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. (1998) (27)
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo (2014) (27)
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing (2018) (27)
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant (2005) (27)
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy (2005) (27)
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign (2010) (27)
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases (2017) (26)
Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction (2012) (26)
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements (2009) (26)
Chromosomal phenotypes and submicroscopic abnormalities (2004) (26)
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. (2013) (26)
Platelet studies in autism spectrum disorder patients and first-degree relatives (2015) (25)
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism (2004) (25)
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. (2004) (25)
Prenatal and preimplantation genetic diagnosis (2016) (25)
Metal mining and birth defects: a case-control study in Lubumbashi, Democratic Republic of the Congo. (2020) (25)
Human piebaldism: six novel mutations of the proto‐oncogene KIT (2002) (25)
Velo-Cardio-Facial Syndrome a model for understanding microdeletion disorders (2005) (25)
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (2002) (25)
A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system. (2010) (25)
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome. (2006) (25)
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. (2015) (24)
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients (2004) (24)
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. (2007) (24)
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. (2011) (24)
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability (2013) (24)
A microduplication of CBP in a patient with mental retardation and a congenital heart defect (2007) (24)
Ocular findings in children with a microdeletion in chromosome 22q11.2 (2008) (24)
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (24)
Triplication of distal chromosome 10q (1999) (24)
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion (2004) (24)
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus (2012) (24)
Further delineation of the KBG syndrome. (1998) (24)
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome (2015) (23)
The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing (2014) (23)
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. (2003) (23)
Pseudoautosomal Region 1 Length Polymorphism in the Human Population (2014) (23)
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations (2014) (23)
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience (2018) (23)
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. (2012) (23)
Novel PORCN mutations in focal dermal hypoplasia (2009) (23)
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism (2008) (23)
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients (2006) (23)
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report (2010) (23)
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment (2015) (23)
Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11) (2002) (22)
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations (2018) (22)
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene (2003) (22)
Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease (2017) (22)
Glypican 1 gene: good candidate for brachydactyly type E. (2002) (22)
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). (1997) (22)
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia (2014) (22)
Diaphragmatic hernia as the first echographic sign in Apert syndrome (2000) (22)
Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome (2016) (22)
Genetic control of intra-uterine growth. (2000) (22)
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome. (2008) (22)
Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients (2012) (21)
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome (2003) (21)
Aetiology of congenital hearing loss: a cohort review of 569 subjects. (2013) (21)
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. (2016) (21)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome (2002) (20)
Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia (1999) (20)
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. (2014) (20)
A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome (2017) (20)
Growth pattern in Kabuki syndrome with a KMT2D mutation (2016) (20)
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees. (2014) (20)
Association of CDH11 with non‐syndromic ASD (2014) (19)
Array-based approaches in prenatal diagnosis. (2012) (19)
Middle and inner ear malformations in velocardiofacial syndrome (2004) (19)
Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes (2000) (19)
Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder? (2000) (19)
Presenting symptoms in adults with the 22q11 deletion syndrome. (2014) (19)
Atypical Neuropsychological Profile in a Boy with 22q11.2 Deletion Syndrome Keywords: (2005) (19)
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature (2018) (19)
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. (2010) (18)
Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2 (2012) (18)
Atypical findings in three patients with Pai syndrome and literature review (2012) (18)
Polyhydramnios as a prenatal symptom of the DiGeorge/velo‐cardio‐facial syndrome (1998) (18)
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. (2020) (18)
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies (2021) (18)
Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome (18)
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (2019) (18)
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction (2020) (18)
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect (1998) (18)
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. (1997) (17)
Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)) (1996) (17)
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". (2011) (17)
A cluster of α2-macroglobulin-related genes (α2M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an α2M pseudogene (1989) (17)
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome. (2016) (17)
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature (2020) (17)
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 (2017) (17)
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene (2019) (17)
A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome (2012) (17)
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA (2020) (16)
RAI 1 variations in Smith – Magenis syndrome patients without 17 p 11 . 2 deletions (2005) (16)
FAMILIAL SPASTIC PARAPLEGIA AND MACULOPATHY WITH JUXTAFOVEOLAR RETINAL TELANGIECTASIS AND SUBRETINAL NEOVASCULARIZATION (2000) (16)
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation (2005) (16)
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations. (2001) (16)
First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. (2018) (16)
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome (2020) (16)
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations. (2014) (16)
Novel CASK mutations in cases with syndromic microcephaly (2018) (16)
Focus group discussions on secondary variants and next-generation sequencing technologies. (2015) (16)
Parenting, family contexts, and personality characteristics in youngsters with VCFS. (2004) (16)
MURCS association with duplicated thumb (2002) (16)
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression (2012) (16)
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings (2018) (16)
Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA (2018) (15)
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. (2013) (15)
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses (2004) (15)
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. (2005) (15)
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. (2016) (15)
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? (1996) (14)
X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies (1997) (14)
Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. (1995) (14)
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. (2006) (14)
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (2008) (14)
Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome (1989) (14)
Why genomics shouldn't get too personal: In favor of filters (2012) (14)
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes. (1998) (14)
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 (2013) (14)
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (2015) (14)
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing (2017) (14)
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. (1998) (13)
Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia (2017) (13)
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. (2001) (13)
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. (2001) (13)
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening (2019) (13)
Pierpont Syndrome: A Collaborative Study (2011) (13)
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. (1998) (13)
Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting (2016) (13)
Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate (2015) (13)
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly (2007) (13)
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease (1996) (13)
Personality profiles of youngsters with velo-cardio-facial syndrome. (2002) (12)
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects. (2002) (12)
Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. (1996) (12)
A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism (2014) (12)
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate (2015) (12)
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (2020) (12)
Anterior cervical hypertrichosis and mental retardation (2006) (12)
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. (2006) (12)
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. (2018) (12)
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion (1997) (12)
Partial monosomy 11q and trisomy 12q: variable expression in two siblings. (2003) (11)
SPG20 mutation in three siblings with familial hereditary spastic paraplegia (2017) (11)
3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability. (2015) (11)
Alopecia‐mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism (1996) (11)
Cryptic translocation t(5;18) in familial mental retardation. (2000) (11)
The prenatal diagnosis of spinal muscular atrophy (1998) (11)
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. (1999) (11)
Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). (1998) (10)
Deletions and loss-of-function variants in TP63 associated with orofacial clefting (2019) (10)
Congenital sternoclavicular dermoid sinus. (2016) (10)
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. (2009) (10)
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. (2008) (10)
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (2008) (10)
Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies (2006) (10)
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (2017) (10)
Recurrent involvement of chromosomal region 6q21 in heterotaxy. (2001) (10)
Modelling the influence of pad bending on the planarization performance during CMP (1999) (10)
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (2002) (10)
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. (2010) (10)
Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype (2001) (10)
Mild humoral immunodeficiency in a patient with X‐linked Kabuki syndrome (2016) (9)
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. (1993) (9)
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. (1998) (9)
Unilateral giant cell lesion of the jaw in Noonan syndrome. (2014) (9)
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. (1995) (9)
Occipital Horn syndrome in a 2-year-old boy. (1999) (9)
Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium? (2021) (9)
Fetal sex determination in twin pregnancies using non-invasive prenatal testing (2019) (9)
VATER--tibia aplasia association: report on two patients. (2002) (9)
[Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists]. (2010) (8)
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? (1997) (8)
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa (2012) (8)
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. (2019) (8)
Loss of the Y-chromosome in a malignant Sertoli tumor. (1993) (8)
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series (2018) (8)
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. (1998) (8)
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20). (1998) (8)
Multiple circumferential skin creases: Another sign of genetic mosaicism? (2004) (8)
Semilobar holoprosencephaly in a 46,XY female fetus (2001) (8)
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype (2018) (8)
A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region (1990) (7)
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. (1998) (7)
Large congenital follicular ovarian cyst in a girl with Kabuki syndrome. (1996) (7)
What should we tell parents? Congenital diaphragmatic hernia (2020) (7)
The clinical relevance of intragenic NRXN1 deletions (2017) (7)
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. (1998) (7)
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association. (2020) (7)
Scalp skin lesion in Turner syndrome: more than lymphoedema? (2005) (7)
A catalog of hemizygous variation in 127 22q11 deletion patients (2016) (7)
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) (2010) (7)
DNA methylation profiling and genomic analysis in 20 children with short stature who were born small-for-gestational age. (2020) (7)
Holoprosencephaly in deletions of proximal chromosome 14q. (1998) (7)
Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? (1997) (7)
ELEVATED MATERNAL SERUM AND AMNIOTIC FLUID ALPHA‐FETOPROTEIN LEVELS IN THE DENYS–DRASH SYNDROME (1996) (7)
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. (1996) (7)
Second trimester miscarriage of a male fetus with incontinentia pigmenti. (1998) (7)
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? (1997) (7)
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. (2002) (6)
BMPR 1 A is a candidate gene for congenital heart defects associated with the recurrent 10 q 22 q 23 deletion syndrome (2012) (6)
Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa) (2020) (6)
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo (2018) (6)
Gain-of-Function WASP Mutations in Pediatric and Adult Patients with Myelodysplasia or AML. (2006) (6)
The incidence of DiGeorge/Velo-Cardio-Facial syndrome (1999) (6)
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity? (2009) (6)
Criteria for HNF 1 B analysis in patients with congenital abnormalities of kidney and urinary tract (2015) (6)
The fetal respiratory system as target for antenatal therapy (2011) (6)
The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation (2000) (6)
Aarskog‐Scott syndrome: first report of a duplication in the FGD1 gene (2012) (6)
The Kabuki make‐up (Niikawa‐Kuroki) syndrome and isolated transient hyperphosphatasemia (1994) (6)
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. (2009) (6)
Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions (2015) (6)
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (2001) (6)
Genetics in ophthalmology. (1998) (6)
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism. (2000) (6)
Review: Facial endophenotypes in non-syndromic orofacial clefting. (2015) (6)
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (6)
Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1. (1999) (6)
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries (2016) (6)
Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique. (2017) (6)
Prenatal diagnosis of schizencephaly after inhalation of organic solvents (2007) (6)
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group (2022) (5)
Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. (2000) (5)
The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium (2019) (5)
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20 (2015) (5)
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. (2022) (5)
Posterior amorphous corneal dystrophy caused by a de novo deletion (2017) (5)
DiGeorge syndrome and unilateral symbrachydactyly. (1997) (5)
Autosomal dominant isolated velopharyngeal insufficiency (2002) (5)
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study (2020) (5)
SOX18 and the hypotrichosis-lymphedema-telangiectasia syndrome (2008) (5)
Severe mental retardation ‐ distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion (1998) (5)
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (2004) (5)
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions. (2014) (5)
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features (2020) (5)
Holoprosencephaly: A case series from an area with high mining‐related pollution (2019) (5)
FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish (2011) (5)
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2017) (5)
Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa (2014) (4)
Velocardiofacial syndrome presenting as distal arthrogryposis (2004) (4)
Aneurysm of the ductus arteriosus in a neonate with 13q-deletion. (2001) (4)
Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome (2019) (4)
Relation between Oxide-CMP Induced Defects and Post-CMP Cleaning Strategies (1998) (4)
A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene. (1989) (4)
Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease (2021) (4)
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. (2002) (4)
Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia (2018) (4)
Mirror-image gastroschisis in monochorionic female twins. (2015) (4)
Congenital diaphragmatic hernia as a part of Nance–Horan syndrome? (2018) (4)
DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes (2010) (4)
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. (2020) (4)
Identification of intellectual disability genes in female patients with skewed X-inactivation (2015) (4)
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome. (1996) (4)
Diagnostic evaluation for asymmetry: consider genetic mosaicism (2004) (4)
Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. (2020) (4)
Heterogeneity in omphalocoele with absent radial ray complex. (1999) (4)
Follow-up of an adult with Keutel syndrome. (1999) (4)
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema (2012) (4)
A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis (2010) (4)
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. (2014) (4)
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). (2004) (3)
Rinsing and Drying Effects on Heterogeneous Substrates (2001) (3)
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family (2005) (3)
PEDIA: prioritization of exome data by image analysis (2019) (3)
Skin pigmentation anomalies in ring chromosome 13. (1998) (3)
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy (2021) (3)
Chromosome mapping using polymerase chain reaction on somatic cell hybrids. (1990) (3)
Clinical delineation of the PACS1-related Syndrome (2015) (3)
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability (2014) (3)
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. (2001) (3)
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. (2016) (3)
Right aortic arch with vascular ring in one monozygotic twin. (2005) (3)
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy (2021) (3)
Hydrocephalus with features of VATER. (1995) (3)
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations. (2003) (3)
Congenital Malformations and Trace Metals: A Case-Control Study from Lubumbashi, DR Congo (2018) (3)
Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36. (2010) (3)
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge (2022) (3)
Evolution of the IBDM Structural Latch Development into a Generic Simplified Design (2010) (3)
Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies (2016) (2)
Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities. (1996) (2)
8p- syndrome: A new microdeletion syndrome associated with hyperactivity and aggressive behavior (1997) (2)
Psychosis in Prader Willi syndrome and chromosomal 15 maternal uniparental disomy (2002) (2)
Polymicrogyria and lissencephaly type I: neuropathological and molecular findings (1997) (2)
Molecular karkyotyping detecs structural low grade mosaics in 4 % of patietns with idiopathic mental retardation and multiple congenital aberrations (2005) (2)
Autosomal recessive primary microcephaly due to ASPM mutations: An update (2018) (2)
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability (2013) (2)
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child (2017) (2)
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. (2021) (2)
Syndromic clefting : broadening the clinical spectrum of an “old” syndrome, confirmation of a rare syndrome and description of a novel entity (2005) (2)
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. (2002) (2)
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter). (1999) (2)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: frequent increased gene dosage of known XLMR genes (2007) (2)
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. (2016) (2)
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. (2021) (2)
Mapping of a genetic factor for the X-linked infantile spasms syndrome (MIM 308350) to Xp11.4 - Xpter in two pedigrees (1997) (2)
Opposite effects of growth hormone and estrogens on the pregnancy zone protein serum levels in children and adolescents. (1993) (2)
Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene (2008) (2)
Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings (2008) (2)
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease (2012) (2)
Molecular karyotyping: Towards improved pre- and postnatal diagnosis (2005) (2)
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa) (2020) (2)
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. (2017) (2)
Low prevalence of chronic kidney disease in Far-East Asian populations : impact of the ethnicity factor ? (2)
a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein (2)
Oto-onycho-peroneal syndrome: confirmation of a syndrome. (1998) (2)
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. (2002) (2)
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome (2022) (2)
Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives (2018) (2)
Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (2)
Announcing "Chromosomal imbalance letter" (2005) (1)
GJA1 mutations in oculo-dento-digital dysplasia (2005) (1)
Massive parallel Sequencing in non-syndromic familial CHD (2013) (1)
CATCH 22: the expanded clinical spectrum (1996) (1)
The majority of uncommon chromosomal imbalances detected by NIPT are postzygotic (feto)placental mosaics (2017) (1)
Mathematical disabilities in children with 22q11.2 Deletion Syndrome (2006) (1)
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series (2020) (1)
Velo-Cardio-Facial Syndrome: Nephro-urologic, gastrointestinal, and ophthalmic findings (2005) (1)
Whole exome sequencing reveals de novo variants that affect chromatin remodeling processes in Nicolaides-Baraitser syndrome patients (2011) (1)
A case of left isomerism with early fetal decompensation (2007) (1)
Heterochromia of the irides and a motility disorder of the oesophagus: a coincidence or a defect during embryogenesis? (2003) (1)
Erratum: Rare variants in NR2F2 cause congenital heart defects in humans (The American Journal of Human Genetics (2014) 94 (574-585) (2014) (1)
OP09.10: Flow of patients with isolated congenital diaphragmatic hernia following referral to a fetal surgery unit (2009) (1)
MECP2 relateddisorders in male patients with mental retardation and neurological symptoms (2004) (1)
Growth pattern in Kabuki Syndrome (2013) (1)
Genetic causes of intellectual disability among males in Kinshasa (2013) (1)
Narrowing the critical deletion region for autism spectrum disorders in chromosome 16p11.2 (2009) (1)
Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? (2004) (1)
Workshop: improving dysmorphology skills of new syndromes with computer aided analysis (2016) (1)
Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo (2020) (1)
TO JMG Mild Wolf-Hirschhorn syndrome : microarray CGH analysis of atypical 4 p 16 . 3 deletions enables refinement of the genotype-phenotype map (2004) (1)
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo (2018) (1)
Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome (2021) (1)
The eye and the kidney (1997) (1)
Massively parallel sequencing in >250 families with X-linked intellectual disability (2011) (1)
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa (2015) (1)
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies (2020) (1)
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (2016) (1)
Erratum: Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and digeorge syndromes (American Journal of Human Genetics (2013) 92 (439-447)) (2013) (1)
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Authors' reply (2009) (1)
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome. (2019) (1)
Functional exploration of A type lamins and associated proteins in patients affected with Hutchinson-Gilford progeria syndrome caused by G608G mutation in LMNA (2003) (1)
Genomic rearrangements of the grem1-fmn1 locus cause oligosyndactyly, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly (2010) (1)
Empirical Ethics: The “Missing Link” in Incidental Findings Recommendations (2014) (1)
Chapter 2 . 3 Mutations in a TGFß ligand , TGFB 3 , cause syndromic aortic aneurysms and dissections Mutations in TGFB 3 cause syndromic aortic aneurysms and dissections (2019) (1)
06-P038 Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm (2009) (1)
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome? (2006) (1)
A novel X-linked severe chronic neutropenia syndrome maps to Xp11.3-q21.3 (2000) (1)
Triangular face and vascular malformation. The links to renal failure. (2003) (1)
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the hallux associated with cerebral cyst: a new entity? (2015) (1)
Array-CGH in clinical practice: Fascination and frustration (2009) (1)
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (2020) (1)
Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot (2018) (1)
Ophthalmological Findings in 6p Deletion Syndrome (2015) (1)
Arterial tortuosity syndrome: clinical and molecular characterization of 12 newly identified families (2007) (1)
Agnathia otocephaly: A case from the Katanga Copperbelt (2020) (1)
Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia. (2003) (1)
Primary prevention implantable cardioverter de ﬁ brillators in end-stage kidney disease patients on dialysis: a matched cohort study (2015) (1)
Gene prioritization by genomic data fusion (2007) (1)
Skewed X-inactivation in female carriers of dyskeratosis congenita (1996) (1)
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype (2014) (1)
Mesomelic form of short stature, congenital cataract, patent ductus arteriosus and muscular hypotonia associated with de novo translocation (13;18)(q14;q23) (2004) (1)
Array-CGH: a novel tool in genetic diagnosis of individuals with congenital heart defects (2006) (1)
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene. (1996) (0)
Deletion of TBX1 is not responsible for facial dysmorphology in patients with 22q11.2 deletion syndrome (2016) (0)
High resolution aCGH screening of patients with syndromic congenital heart defects (2009) (0)
Dosage of chromatin remodelling enzymes is critical for human heart development (2009) (0)
Structural variation of chromosomes in individuals with autism spectrum disorders (2012) (0)
Preliminary findings on the physical activity in young adolescents with the 22q11.2 deletion syndrome (2008) (0)
Non-invasive prenatal detection of a mosaic trisomy 16 (2014) (0)
An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome features (2009) (0)
Door syndrome: deafness, onychdystrophy, osteodystrophy, and mental retardation (2015) (0)
Complex genomic rearrangement in the SMA-region on Chromosome 5q13 in a patient with severe congenital Werdnig-Hoffmann disease (1997) (0)
Genetic Background of Primary Lymphedema (2010) (0)
European Mathematical Genetics Meeting, Heidelberg, Germany, 12th–13th April 2007 (2007) (0)
A molecular view on eye development (1998) (0)
4p16 olfactory receptor gene cluster is a promiscuous hotspot for chromosomal rearrangements (2007) (0)
Facial morphology associated with isolated cleft palate (2016) (0)
A 2.2Mb 1q42.2 Microduplication Including DISC1 in 2 Brothers with Autism and Mild Mental Retardation (2009) (0)
FATCO syndrome: fibular hypoplasia, tibial campomelia and oligosyndactyly (2016) (0)
Haploinsufficiency of TBX1 is not responsible for facial dysmorphology in patients with 22q11.2 deletion syndrome (2016) (0)
Expanding preimplantation genetic diagnostic options (2017) (0)
SkewedX-Chromosome Inactivation inFemaleCarriers of Dyskeratosis Congenita (1997) (0)
The behavioral phenotype in children and adolescents with VCFS (del22q11) (2001) (0)
NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations. (2023) (0)
Congenital heart defects in a novel rec urrent 22q11.2 deletion harboring CRKL and MAPK1 (2012) (0)
The genetics of ASD: insights from the Leuven autism study (2016) (0)
Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC (2016) (0)
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. (1998) (0)
GATA-3 in human T helper cell type 2 development (2004) (0)
Progressive, X-linked complicated spastic paraplegia in a family (1996) (0)
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature (2018) (0)
Congenital diaphragmatic hernia as a part of Nance–Horan syndrome? (2018) (0)
Detection of heterozygous SALL1 deletions proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome (2006) (0)
Fetal Determinants of Adult Health (2002) (0)
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa (2022) (0)
DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age (2021) (0)
The Nance-Horan syndrome: still underdiagnosed? (2007) (0)
GJA1 mutations in patients with oculo-dento-digital dysplasia (2005) (0)
Familial syndromic and non-syndromic congenital diaphragmatic hernia: the value of exome sequencing (2014) (0)
CAPZB: A Potential Novel Key Player in Cardiac Development and Congenital Heart Defects (2018) (0)
The genetic basis of autism spectrum disorders: identification and analysis of structural variants (2012) (0)
Mutations in known cardiac genes explain half of autosomal dominant familial nonsyndromic congenital heart defects (2014) (0)
Clinical implementations of NIPT – results from 4000 pregnancies (2015) (0)
Maternal uniparental disomy for chromosome 15 and jumping translocation of distal 15q in a patient with the Prader-Willi syndrome: A molecular and cytogenetic analysis (1996) (0)
Expression profiling of 4p terminal deletions suggest that telomere position effects may contribute to disease phenotypes (2008) (0)
A novel 8q11.1 deletion encompassing CHD7 identified by array CGH in a child with multiple anomalies (2005) (0)
ArrayCGH detects mosaics in similar to 4% of patients with MR/CA (2005) (0)
Towards a Belgian variant reference set (2014) (0)
Growht in individuals with Kabuki syndrome (2012) (0)
Homozygous loss-of-function mutation causes the lethal disorder mitogenic cardiomyopathy in two siblings (2014) (0)
Functional haploinsufficiency of the elastin gene in patients with isolated supravalvular aortic stenosis (1999) (0)
Unilateral symbrachydactyly of the foot. (2006) (0)
Parry-Romberg Syndrome: Clinical Presentation in a Congolese Patient (2018) (0)
CHARGE syndrome: The phenotype in patients with and without CHD7 mutations (2005) (0)
HNF1B mutations in patients with congenital renal abnormalities : a prospective study (2012) (0)
CADHERIN-11 as a possible candidate gene for autism (2008) (0)
Arterial tortuosity syndrome : 29 novel families (2016) (0)
Syndrome de Williams Beuren: difficultés pour le diagnostic dans un patient Congolais (2013) (0)
Microcephaly, short stature, hypogonadism and mental retardation in males: renpenning syndrome (2004) (0)
Targeted sequencing of non-syndromic familial CHD (2012) (0)
Neuropsychological characteristics of children with VCFS: evidence for a non-verbal learning disabiltiy? (1999) (0)
Massive parallel sequencing of all human protein-coding genes identifies PACS1 as a new gene for a new intellectual disability syndrome (2011) (0)
High prevalence of sensorineural hearing loss in 22q11.2 deletion syndrome (2014) (0)
Five new cases with FATCO syndrome (2017) (0)
Further Expansion of the CHARGE Geno-Phenotype: A Girl with a Novel Deletion of CHD7 and with the Combination of Hypogonadotropic Hypogonadism and Agenesis of Internal Genitalia (2015) (0)
Rothmund-Thomson syndrome: Immuno-osseous challenges (2011) (0)
Congenital Diaphragmatic Hernia: Pathophysiology and Antenatal Assessment (2019) (0)
O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening (2005) (0)
Targeted massive parallel sequencing for arrhythmias and cardiomyopathies in a diagnostic setting (2016) (0)
Genomic rearrangements encompassing and located outside the SHOX transcription unit identified using MLPA and a newly developed qPCR assay (2009) (0)
SMURF1 is involved in cardiac development and congenital heart defects (2010) (0)
Mosaic trisomy 15: long term follow-up data in three patients (2006) (0)
DYSCERNE: Developing clinical management guidelines for dysmorphic conditions (2009) (0)
Giant platelets in velo-cardio-facial syndrome (1999) (0)
Catatonia in adults with Phelan-Mc Dermid syndrome (2017) (0)
Mutation analysis in Costello syndrome and functional characterisation of the HRAS K117R mutation (2007) (0)
Deletions and loss-of-function variants in TP63 associated with orofacial clefting (2019) (0)
Value of gene panel targeted next generation sequencing in the diagnostic of genetics causes of isolated congenital diaphragmatic hernia (2017) (0)
Amisyn, SCAMP5 and NBEA are candidate genesfor autism and suggest a role for neuron vesicle trafficking in the pathogenesis of autism (2006) (0)
A gene for congenital urological malformatons on chromosome 6p (1995) (0)
Sequence based evaluation of the remaining allele in 22q11.2 deletion patients (2016) (0)
Diagnostic utility of microarray analysis to detect rare CNVs in autism spectrum disorders (2014) (0)
Analyses of variants of unknown significance in families with non-syndromic autism spectrum disorders and normal intelligence (2015) (0)
Severe congenital limb anomalies in patients with CHARGE syndrome (2007) (0)
A genetic-etiological study of intellectual disability in the Democratic Republic of Congo. Initial results (2012) (0)
Information management for constitutional cytogenetics: tools for ArrayCGH in a clinical diagnostic context (2008) (0)
Identification of Congenital Diaphragmatic Hernia genes by Whole Exome Sequencing (2016) (0)
Abstract 13687: Global Rare Genic Copy Number Variants Contribute to Isolated Sporadic Tetralogy of Fallot (2011) (0)
Hearing loss in patients with 22q11.2 deletion syndrome (2014) (0)
Belgian MicroArray Prenatal (BEMAPRE) database (2015) (0)
Genomic rearrangements encompassing and upstream of SHOX identified using (2008) (0)
Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions (2014) (0)
Aarskog syndrome, cleft palate and autism – a novel microdeletion syndrome (2010) (0)
A study of candidate genes for dominant non-syndromic microcephaly in a family with inherited chromosomal translocations t(5q35.2;18q22.3) (2007) (0)
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements (2022) (0)
Mohr-Majewski spectrum (2007) (0)
Extended genotype - phenotype correlation study in Kabuki syndrome patients comparing MLL2 mutation carriers vs. noncarriers (2011) (0)
The genetic basis of orthopaedic malformations (2004) (0)
Array Comparative Genomic Hybridization as a clinical diagnostic tool in syndromic and non-syndromic congenital heart defects (2012) (0)
Genotype-phenotype correlations in atypical 22q11.2 deletions: the role of TBX1 (2016) (0)
Using a zebrafish model to quantify a cardiomyopathy phenotype in a causal novel gene (2017) (0)
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). (2008) (0)
Presenting symptoms, clinical features and anthropometric data in 126 patients with the velo-cardio-facial syndrome (1999) (0)
Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation (2001) (0)
Healthy Genes for Everyone (2016) (0)
Sacrococcygeal appendage with femur: exoparasitic pyropagus twin, mature teratoma, or disorganization-like syndrome? (2015) (0)
The Use of Array CGH for Prenatal Diagnosis of Fetuses with Congenital Malformations detected by Ultrasound (2011) (0)
DETECTION OF FACIAL DYSMORPHISM IN CENTRAL AFRICAN PATIENTS (2016) (0)
Making array CHG technology accessible for Congolese patients using stripped slides (2014) (0)
Screening of Interferon Regulatory Factor 6 (IRF6) in European Patients with Van der Woude / Popliteal Pterygium Syndrome or Non Syndromic Cleft Lip and Palate (2008) (0)
Detection of low grade mosaics by array CGH (2005) (0)
Molecular genetic characterization of Congolese patients with oculocutaneous albinism. (2022) (0)
Prenatal diagnosis: Challenges in the interpretation of high resolution genetic screening tests (2012) (0)
Looking for novel genes causing syndromic forms of microcephaly (2013) (0)
Frequency of HNF1B mutations in CAKUT patients: are we screening too much? (2014) (0)
Arithmetic achievement, strategy use and cognitive correlates in children with a genetic risk for math disability: The case of Velo-Cardio-Facial Syndrome (2005) (0)
The Leuven experience in CATCH 22 syndrome (1996) (0)
A new cause of syndromic congenital diaphragmatic hernia identified by exome sequencing (2014) (0)
A submicroscopic 5q11.2 deletion in a girl with autism, mild (2008) (0)
Granulomatours skin lesions complicating VZV infection in a patient with Rothmund-Thomson syndrome (2009) (0)
CHDWiki: a comprehensive tool to gather and manage cardiogenetic data (2008) (0)
On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. (2000) (0)
1q21.1 rearrangements in non-syndromic tetralogy of Fallot and other congenital heart defects (2011) (0)
: Kabuki syndrome: a personal reflection over time and recent data on the influence of Growth Hormone treatment in prepubertal children (2016) (0)
Non-Mendelian inheritance in split-hand/foot malformation associated with CNVs on chromosome 17p (2011) (0)
Confirmation of a distinct condition with severe limb deficiency, (mirror) polydactyly and variable organ malformations (2016) (0)
An aCGH screening study in 150 patients identifies a novel dosage-sensitive gene, TAB2, which is disrupted in multiple patients with cardiac defects (2009) (0)
Physical activity patterns in youngsters with 22q11.2 (2013) (0)
Taking the next step forward: diagnosing inherited kidney diseases with a clinical exome (2018) (0)
Usefulness of Automated Image Analysis for Recognition of the Fragile X Syndrome Gestalt in Congolese Subjects (2021) (0)
Contents, Vol. 75, 1996 (1996) (0)
Feeding and speech disorders in children with VCFS (2000) (0)
MYT1L, a new candidate gene for non-syndromic intellectual disability (2012) (0)
A new familial case of Gollop-Wolfgang syndrome confirming an autosomal recessive mode of inheritance (2006) (0)
Report 10 new patients with a heterozygous mutation in the COL11A1 gene and review of genotype-phenotype correlations in type XI collagenopathies (2006) (0)
Imprinting defect in patients with Albright’s Hereditary Osteodystrophy and platelet Gs hypofunction (2012) (0)
Studies of three candidate genes suggests that errors in the regulated secretion pathway may underlie autism (2006) (0)
A new pathway in the intraneuronal biology of autism (2004) (0)
Duplication of the TGFBR1 gene in a boy with features of Loeys-Dietz Syndrome (2011) (0)
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder (2021) (0)
Clinical and molecular approaches of chromosomal syndromes: The Leuven experience in catch 22 syndrome (1997) (0)
Congenital lateral abdominal wall defect in two Congolese children. (2019) (0)
Variability in expression of chr14q22.1-22.2 microdeletion (2011) (0)
UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation (2017) (0)
A family with progressive, X-linked complicated spastic paraplegia (1995) (0)
Subject Index Vol. 43, 1995 (1995) (0)
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15? (2002) (0)
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (2021) (0)
Clinical implementation of non-invasive prenatal aneuploidy detection (2014) (0)
DYSCERNE: Results from a pilot of the electronic Dysmorphology Diagnostic System (DDS) (2009) (0)
Mutation in POLA1 in a family with X-linked syndromic mental retardation (2010) (0)
Deletions and mutations of MEIS2 cause a triad of palatal defects, congenital heart defects and intellectual disability (2018) (0)
Familial microdeletion/microduplication 16p11.2-p12.1: further clinical and molecular delineation (2011) (0)
Frequency of HNF1B mutations in congenital abnormalities of kidney and urinary tract (CAKUT): are we screening too many patients? (2014) (0)
Targeted re-sequencing of the remaining 22q11.2 region (2011) (0)
Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome. (2018) (0)
Array CGH for the Identification of Genomic Imbalances Associated With Congenital Diaphragmatic Hernia & Prenatal Congenital Anomalies (2010) (0)
Partial DiGeorge syndrome in two patients with rearrangement in distal chromosome 10p: evidence for a DiGeorge critical region III (1999) (0)
Ichthyosis - cleft palate - mental retardation: case report and nosological considerations (1995) (0)
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008) (2009) (0)
Genome-wide association study of modifiers for tetralogy of Fallot in 22q11DS identifies variants in the GPR98 locus on 5q14.3 (2016) (0)
Arithmetic achievement in children with a genetic risk for math disability: The case of Velo-Cardio-Facial Syndrome (2005) (0)
MO021ENHANCED MCP-1 RELEASE IN EARLY AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (2021) (0)
Intergenerational transmission of quantative autism traits in the general population and ASD families (2011) (0)
Author's response to reviews Title:From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo Authors: (2014) (0)
Array CGH, the double-edged result: the explanation but also an unexpected prediction (2010) (0)
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects. (2022) (0)
Clinical and molecular approaches of chromosomal syndromes (1997) (0)
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets (2022) (0)
Different genetic defects in four females with characteristic features of Incontinentia Pigmenti (2014) (0)
Human-mouse somatic cell hybrids: a method to study positional effect on gene expression by chromosomal translocations (2007) (0)
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism. (2023) (0)
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA (2020) (0)
An autism spectrum disorder family study: Specific phenotypes in relatives and familial transmission of quantitative autism traits (2011) (0)
The 15q11.2 deletion and Autism Spectrum Disorders (2012) (0)
Familial inherited microtia caused by amplification of the 4p16.1 olfactory receptor gene cluster (2005) (0)
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets (2022) (0)
Two siblings with postaxial polydactyly, a congenital heart defect, ectopic pituitary gland and distinct falial features. A new entity? (2005) (0)
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening (2019) (0)
A genetic etiological study of intellectual disability in Kinshasa - DR CONGO (2015) (0)
Complex intrachromosomal rearrangements (2008) (0)
Transfer of aneuploid embryos following preimplantation gegnetic diagnosis: the added value of a haplotypign-base genome-wide approach (2017) (0)
ZNF462 mutations cause syndromic intellectual disability with ptosis and distinct craniofacial anomalies (2017) (0)
PA26 is a candidate gene for human heterotaxia: human and zebrafish studies (2004) (0)
Contents Vol. 115, 2006 (2006) (0)
Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2? (2005) (0)
Investigating the possible relevance of a stop mutation in ERC2 (2011) (0)
A major locus for vesicoureteric reflux and its nephropathy (1999) (0)
An updated map of the genomic copy number variants in patients with congenital eye malformations (2009) (0)
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2018) (0)
DYSCERNE: An electronic Dysmorphology Diagnostic System (DDS) (2008) (0)
Prenatal Array CGH Identifies Genomic Imbalances Associated With Congenital Diaphragmatic Hernia (CDH) (2012) (0)
Cognitive correlates of math disability in children with 22q11.2 Deletion Syndrome (2006) (0)
An Atypical Familial 4p16.3 deletion associated with Mild Wolf-Hirschhorn syndrome illustrates the power of 3D Shape analysis of Facial Dysmorphology (2009) (0)
Congenital pulmonary lymphangiectasis in two female half-siblings (2006) (0)
Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements (2017) (0)
FOXG1 haploinsufficiency due to a position effect by a balanced translocation in a boy with congenital Rett variant (2011) (0)
Abstract 13234: 1q21.1 Microduplications are Strongly Associated with Tetralogy of Fallot and 1q21.1 Microdeletions are Associated with Other Congenital Heart Defects (2011) (0)
High resolution Agilent 244K oligoarray CGH analysis for screening of patients with congenital eye malformations (2008) (0)
Exome sequencing in syndromic patients with congenital heart disease performing trio analysis (2012) (0)
Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
The 22q11.2 Deletion Syndrome: Second Hit Copy Number Variants and Conotruncal Heart Defects (2011) (0)
No evidence for mutations in five candidate genes, GATA4, FOG2, CRELD1, HEY2 and BMP4 as a common cause of structural cardiac defects (2006) (0)
Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy (2021) (0)
All familial cases of MCLMR are caused by mutations in KIF11 (2013) (0)
The value of prenatal MRI in the decision-making process for termination of pregnancy (2011) (0)
NPHP4 Variants are Associated with Congenital Heart Malformations and Heterotaxy (2011) (0)
No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (2014) (0)
Microdeletion 2q31-redefining the correlated clinical phenotype (2005) (0)
Exome sequencing reveals distinct genetic architectures for syndromic and nonsyndromic congenital heart defects (2016) (0)
DYSCERNE: Online educational tools for dysmorphology - examination of a fetus with congenital abnormalities (2009) (0)
A novel microduplication detected by array-cgh in a familial epilepsy associated with hypotonia, mental retardation and behavior disorders (2008) (0)
Mosaicism for a double autosomal trisomy in hypomelanosis of Ito (1996) (0)
Contents Vol. 135, 2011 (2011) (0)
The acrofacial dysostoses: a wide spectrum of overflapping phenotypes with etiological heterogeneity (2005) (0)
Exome sequencing and linkage analysis as tools in solving uncommon cardiomyopathies in small families (2015) (0)
Clinical phenotype in noonan syndrome patients with SOS1 mutations (2008) (0)
Chromosomale microarrays in de prenatale diagnostiek (2015) (0)
Neuropsychopathology in patients with SHANK 3 haploinsufficiency: presence of bipolar disorder and progressive loss of skills (2012) (0)
The Human HDR syndrome (2003) (0)
Congenital bilateral vesicular facial lesions with a linear and symmertric distribution – A new dysmorphic feature? (2005) (0)
Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
RLIM is a new candidate gene for congenital diaphragmatic hernia (2017) (0)
ARX mutation in a boy with mental retardation, transsphenoidal encephalocele, agenesis of the corpus callosum and anterior pituitary deficiency: broadening the clinical spectrum (2004) (0)
Evidence from adults with intellectual disability to cnv in prenatal period: how to build penetrance validation and appropriate genetic counselling? an example with 10q11.22 duplication (2016) (0)
Trio analysis using Next Generation sequencing technology to identify de novo mutations in individuals with syndromic cardiopathy (2014) (0)
The Centre for Hereditary Heart disease: an interdisciplinary approach towards cardio genetics (2006) (0)
Genetic linkage analysis in nonspecific XLMR: Mapping of the MRX49, MRX50 and MRX51 loc (1997) (0)
Diagnosis of an asymptomatic uterine rupture in a twin pregnancy with four-dimensional ultrasound examination and magnetic resonance imaging (2007) (0)
Copy number variations in congolese patients with ID (2015) (0)
Microcephaly associated with a familial balanced translocation t(5;18)(q35.2;q22.3):gene expression studies in lymphoblastoid cell‐lines. (2011) (0)
Multidisciplinary search for intermediate phenotypes in autism spectrum disorders (2008) (0)
Deletion 1p36: clinical findings in 6 patients and use of FISH and microarray technology to detect submicroscopic lesions (2007) (0)
Interpretation of array cgh recurrent micro-deletions/duplications: 16p13.11 as example (2008) (0)
Maternal copy number variations in the DMD gene as incidental findings in non-invasive prenatal testing (2019) (0)
Volume reviewers (2011) (0)
The diagnostic odyssey of Kabuki syndrome: a never ending story? (2016) (0)
Analysis of autosomal CNV profiles in patients and siblings in autism families (2015) (0)
Neurobehavioural deficits in 11 children (2-12 years) with 22q11.2 duplication (2010) (0)
Cognitive and psychosocial findings in a family with renpenning syndrome (2004) (0)
C Identification of the major genetic contributors to tetralogy of fallot (2019) (0)
Comorbidity of Aarskog syndrome and child psychiatric pathology: Case reports, literature review and implications for the genetics of (develop)mental retardation (2004) (0)
Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11 (1997) (0)
Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia (2022) (0)
NBEA, SCAMP5 and AMISYN: three candidate genes for autism involved in regulated secretion (2008) (0)
Identification and characterization of variants in FGF8 and the 5’ region of TBX1 as possible modifiers of the cardiac phenotype in monosomy 22q11.2 (2007) (0)
Genome-wide SNP calling and detection of submicroscopic imbalances using 250K SNP arrays (2008) (0)
Genome-wide association study identifies common variation associated with congenital heart disease (2013) (0)
Solving syndromic congenital heart defects using WES in a Trio or Index-only approach (2017) (0)
Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3 (2016) (0)
caused by a 22 q 11 deletion . Renal and urological tract malformations (0)
Familial Axenfeld-Rieger syndrome caused by a FOXC1 deletion clinically mimicking aniridia (2016) (0)
A novel compound heterozygous loss-of-function mutation in KIF20A is associated with a rare, lethal cardiomyopathy in two siblings (2017) (0)
Multifactorial familial intellectual disability: a clinical study in schools for special education (2015) (0)
Targeted massive parallel sequencing for inherited kidney diseases in a diagnostic setting (2016) (0)
GNAS NESP and XL hypermethylation in pseudopseudohypoparathyroidism patients (2011) (0)
A cognitive characterization of math impairments in children with 22q11.2 deletion syndrome (2008) (0)
OCULO‐AURICULO‐VERTEBRAL SPECTRUM (2020) (0)
The biology of mental retardation: a challenge (2001) (0)
Genetic causes of intellectual disability in D.R.Congo: An etiological diagnostic survey in 46 males (2012) (0)
OF EUROPEAN PEDIATRIC / ADULTS NE PHROLOGISTS AND GENETICISTS ABOUT DIAGNOSTIC TESTING OF ASYMPTOMATIC OFFSPRING FROM FAMILIES AFFECTED BY AUTOSOMAL DO MINANT POLYCYSTIC KIDNEY DISEASE (2016) (0)
Subject Index, Vol. 75, 1996 (1996) (0)
A New Pierre Robin Syndrome Caused by 5q23.2 Deletions (2008) (0)
High frequency of copy number alterations in patients with congenital eye malformations (2010) (0)
Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven (2016) (0)
DYSCERNE Results from the full European launch of the Electronic Dysmorphology Diagnostic System (DDS) (2010) (0)
Intelligence andpsychosocial adjustmentin velocardiofacial syndrome: astudy of37children andadolescents withVCFS (1997) (0)
Further studies in Kabuki syndrome patients (2012) (0)
Array CGH Identifies Novel Recurrent & Non-Recurrent Genomic Imbalances associated with CDH (2011) (0)
In silico validation of small CNV’s from a dense SNP array (2016) (0)
Child psychiatric problems in children with Velo-Cardio-Facial syndrome (1999) (0)
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (0)
Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome (2018) (0)
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 (2017) (0)
An unknown syndrome of congenital hypoplasia of the lateral abdominal wall muscles (2015) (0)
Genetic causes of primary lymphedema (2011) (0)
Exome sequencing and Linkage Analysis as Tools in solving and Uncommon Cariomyopathy in a Small Family (2015) (0)
Exome sequencing and Linkage Analysis as Tools in solving Syndromic Cardiopathies in Small Families (2016) (0)
Clinical applications of the CHDWIKI: a portal to manage and gather Cardiogenetic data (2009) (0)
Contents Vol. 114, 2006 (2006) (0)
The Nicolaides-Baraitser syndrome: description of five additional patients (2011) (0)
Genetics of trigonocephaly (2006) (0)
Duplication 22q11-polymorphism versus syndrome? (2005) (0)
A novel genomic disorder at 16p13.11: Where is the syndrome? (2007) (0)
Variability in expression of a familial 2.79 Mb microdeletion in chr14q22.1-22.2 (2011) (0)
ArrayCGH analysis detects cryptic chromosomal aberrations in more than twenty percent of patients with idiopathic mental retardation and multiple congenital anomalies (2005) (0)
Novel clinical and molecular findings in patients with noggin mutations (2004) (0)
Volume Reviewers (2013) (0)
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care (2018) (0)
FAM120C as a novel X-linked candidate gene for autism (2010) (0)
Preliminary finding in boys with Fra X permutation. 7th SSBP International Research Symposium (2004) (0)
Pre-academic and early academic achievement in children with Velo-Cardio-Facial Syndrome (22q11.2 deletion syndrome) (2003) (0)
Positional cloning of three condidate genes for autism: A possible role for neuron vesicle trafficking in the pathogenesis of autism (2004) (0)
Targeted capture sequencing identifies mutations in a substantial proportion of prior genotype negative - phenotype positive patients with inherited primary arrhythmia syndrome or cardiomyopathy (2015) (0)
Fetal sex determination in twin pregnancies using non-invasive prenatal testing (2019) (0)
Deletions and mutations in MEIS2 are a common cause of syndromic cleft palate (2017) (0)
Complete penoscrotal Transposition with intact scrotum: first description of a case from central Africa (2015) (0)
The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract] (2015) (0)
A genetic-etiological study of intellectual disabilit in the Democratic Republic of Congo (2012) (0)
Theprevalence ofPAX2mutations inpatients withisolated colobomas orcolobomas associated withurogenital anomalies (1998) (0)
Baraitser-Winter syndrome: delineation of the phenotypic spectrum in a large series of molecularly defined patients (2012) (0)
Scleroderma-like changes as presenting sign of Hutchinson Gilford Progeria (2003) (0)
Non-invasive prenatal aneuploidy detection (2014) (0)
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (0)
A de novo mosaic supernumerary marker derived from chromosome 16 (2002) (0)
Mutations in KIF11 cause Microcephaly-Lymphedema-Chorioretinal dysplasia syndrome (MLCRD) (2012) (0)
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo (2022) (0)
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (2017) (0)
DYSCERNE: An Online Educational Tool for Dysmorphology - Examination of a fetus with congenital abnormality (2009) (0)
A full coverage high-resolution X-chromosome array for the detection of submicroscopic genomic copy number changes in patients with mental retardation (2005) (0)
Molecular karyotyping reveals 12% submicroscopic imbalances n a selected group of institutionalized patients with idiopathic mental retardation (2006) (0)
The complex nature of monosomy 1p36 (2007) (0)
Audiological and otoscopic results in the velo-cardio-facial syndrome (2003) (0)
Chromosomal anomalies in 4 children with autism: Breakpoints and 1 gene (2002) (0)
Cutting Edge Technology and Old-Fashioned Relationships: Ethical Reflections on Incidental Findings Arising from Whole Genome and Exome Sequencing (2011) (0)
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes. (2005) (0)
Molecular karyotyping - novel powerful tool for gene identification (2006) (0)
Four patients with macrodactylie: Proteus syndrome? (2006) (0)
Copy Number Variation screen in catatonic patients with intellectual disabilityuncovers a novel susceptibility focus for psychiatric disorders on 14q11.2 (2016) (0)
Mathematical abilities and working memory in primary school children with 22q11.2 deletion syndrome: some preliminary findings (2004) (0)
OP31.05: Skeletal dysplasias: does first trimester NT measurement matter? (2009) (0)
Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS (2008) (0)
Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome (2017) (0)
Velo-facio-skeletal syndrome versus Aarskog syndrome. (1996) (0)
Spectrum of hepatocyte nuclear factor 1beta mutations in a prospective cohort of patients with congenital renal abnormalities (2011) (0)
Medical Genetics for the MRCOG and Beyond. J. Michael Connor. ISBD 1-900364-99-9 104 pages 2005. £ 26.00. (2006) (0)
Screening of submicroscopic genomic aberrations in patients with X-linked mental retardation by high resolution array-CGH (2005) (0)
Signs in dysmorphology (2007) (0)
60 Comprehensive genome-wide analysis of non-invasive test data allows accurate cancer prediction: a retrospective analysis of over 85.000 pregnancies (2021) (0)
O-182 Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much? (2014) (0)
Copy number variations in psychiatric patients with intellectual disability and catatonia: an exdploratory study (2016) (0)
Mutation in HNRNPK causes a Kabuki-like syndrome with nodular heterotopia (2016) (0)
Distal 10Q duplication and triplication: further delineation of the critical region and characterisation of the phenotype (2009) (0)
The DYSCERNE project has developed clinical management guidelines for Williams, Angelman, Noonan and Kabuki syndromes (2010) (0)
Variable clinical findings in GLI3 morphopathies (2002) (0)
Aarskog-Scott syndrome: Report of the first duplication in the FGD1 gene (2011) (0)
O5: Characterization of subtle copy number changes on the X chromosome identified in 7% of patients with X-linked mental retardation by high-resolution array-CGH (2005) (0)
Follow up of fetuses referred to a fetal surgery unit for isolated congenital diaphragmatic hernia (ICDH) (2009) (0)
Do we need to screen Smith-Magenis Syndrome patients for Renal Tumors? (2017) (0)
Identification of two novel missense mutations in the CSX/NKX2-5 gene encoding a cardiac specific transcription factor. (2001) (0)
Whole exome sequencing of Nicolaides-Baraitser syndrome patients reveals the de novo nature of the underling defects (2012) (0)
Targeted re-sequencing of the 22q11 region in atypical DiGeorge patients (2011) (0)
Iris heterochromia: A variable feature in Verloes–Koulischer‐oral‐acral syndrome (2005) (0)
The deletion 15q11.2 and intellectual disability / autism (2013) (0)
Clinical and molecular screening for the fragile X syndrome in specialized institutions in Kinshasa, DR Congo (2016) (0)
A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism (2008) (0)
Widening the phenotype of WAGR syndrome and defining a new locus for preaxial polydactyly (2006) (0)
Velocardiofacial syndrome (VCFS): An im¬portant syndrome to recogni¬ze, caused by a mi¬cro¬de¬le¬ti¬on of chro¬mo¬some 22q11 (1997) (0)
Congenital heart defects in a novel recurrent 22q11.2 deletion syndrome harboring the genes CRKL and MAPK1 (2011) (0)
Whole genome sequencing in patients with the Hallermann-Streiff syndrome (2011) (0)
Exome Sequencing Identifies Inherited Pathogenic Variants for Congenital Diaphragmatic Hernia (2013) (0)
To Tell or Not to Tell? A Review of Ethical Reflections on Incidental Findings Arising in Genetics Contexts (2012) (0)
Clinical and diagnostic evaluation of a population of MR patients livinv in foster families (1997) (0)
Behavioural aspects in children with Wolf-Hirschhorn syndrome (1997) (0)
FOXD1 duplication causes branchio oculo facial-like syndrome (2012) (0)
Achalasia of the upper oesophageal sphincter in children with velo-cardio-facial syndrome (1999) (0)
Incidental findings of genome wide non-invasive fetal aneuploidy detection: presymptomatic identification of maternal cancers (2015) (0)
Locus heterogeneity in ASD associated with AV-block (2006) (0)
Motor development in children with a deletion 22q11 syndrome: an explorative study (1) (2006) (0)
Focal Dermal Dysplasia, Type IV is associated with mutations in CYP26CI (2012) (0)
Unusual cytogenetic findings in two female patients with the Prader-Willi syndrome (1996) (0)
Clinical and genetic studies in three families with XLMR and spastic paraplegia (1997) (0)
Author response for "A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome" (2020) (0)
Ptosis, Short Stature and Mild Skeletal Anomalies. Confirmation of a rare autosomal dominant condition (2009) (0)
Unusual cerebellar malformations: two new cases of Friede syndrome and review of literature (2014) (0)
O4: Detection of structural low-grade mosaicism by array CGH (2005) (0)
Microdeletion 2p15-16.1 syndrome: report of three further patients identified by array-CGH (2011) (0)
Wang syndrome (paternal UPD14-like phenotype): Clinical spectrum, molecular pathology and prognosis (2012) (0)
Neurobeachin, a candidate gene for autism, is involved in regulated secretion (2008) (0)
The clash between the newest genetic sequencing technologies and established ethical concepts (2012) (0)
The del15q11.2: A search for modifying variants in the FMRP network (2014) (0)
Clinical features of 80 adults with the Velo-Cardio-Facial syndrome with an emphasis on the psychiatric diagnoses (2009) (0)
Neurofibromatosis type 2 in two patients with chromosomal abnormalities of chromosome 22 (2010) (0)
An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome 3D facial shap analysis (2008) (0)
A male with partial di George syndrome and multiple exostoses: further characterization of a reciprocal 8q/10p translocation (1997) (0)
Severe Vertebral anomalies in a patietn with Holt-Oram syndrome and a TBX5 sequence variation (2004) (0)
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing (2022) (0)
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo (2018) (0)
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa. (2023) (0)
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium (2023) (0)
Three novel candidate genes for autism are involved in regulated secretion: a possible role for neuron vesicle trafficking in the pathogenesis of autism (2006) (0)
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect (2005) (0)
Supplementary Material for: A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum (2017) (0)
Molecular evidence for full mutations in the FMR1 gene and fragile X syndrome in the Bantu-speaking population in Central Africa (2015) (0)
Vesiculaire uitslag en veralgemeende stuipen: een pasgeborene met incontinentia pigmenti (2015) (0)
A study of facial morphology of Congolese down syndrome patients with FACE2GENE (2015) (0)
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles. (2023) (0)
Genetic retesting with targeted capture sequencing of prior genotype negative – phenotype positive patients with inherited primary arrhythmia syndromes or cardiomyopathy (2015) (0)
Dental care approach in patients with deletion on 14Q22.1 (2017) (0)
9p terminal deletion and genetics of trigonocephaly (2006) (0)
The Matthew-Wood syndrome revisited (2009) (0)
Cited2 haploinsufficiency is associated with congenital heart defects in mouse and man: Introducing the GO-CHD Study (2006) (0)
A gene for non-syndromic autosomal dominant microcephaly on chromosome 5q35 or 18q22 (2006) (0)
Three candidate genes for autism with a possible role in neuron vesicle trafficking (2004) (0)
A 2.2Mb microduplication in 1q42.2 including DISC1 in 2 brothers with autism and mild mental retardation (2009) (0)
Genetic research in autism: What do we learn from it? (2005) (0)
From whole exome sequencing to functional studies in syndromic microcephaly: using zebrafish for variant testing (2015) (0)
Autosomal fragile sites. Their contribution to human pathology (1997) (0)
Dilated cardiomyopathy caused by lamin A/C mutation : need for a prospective study to prevent sudden death in lamin A/C mutation carriers (2003) (0)

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