Elaine Zackai
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Professor of pediatrics
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Philosophy
Elaine Zackai's Degrees
- Doctorate Pediatrics University of Medicine, Taunggyi
Why Is Elaine Zackai Influential?
(Suggest an Edit or Addition)According to Wikipedia, Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia . Biography She was born in Brooklyn in 1943, to a metallurgist and a high school teacher.
Elaine Zackai'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
- 22q11.2 deletion syndrome (2015) (1220)
- Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes (2002) (808)
- Microduplications of 16p11.2 are Associated with Schizophrenia (2009) (685)
- Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. (2014) (601)
- A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010) (561)
- Frequency of 22q11 deletions in patients with conotruncal defects. (1998) (541)
- A mosaic activating mutation in AKT1 associated with the Proteus syndrome. (2011) (523)
- Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. (2000) (513)
- Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. (1993) (458)
- Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly (1999) (423)
- The Philadelphia story: the 22q11.2 deletion: report on 250 patients. (1999) (420)
- Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome (1996) (405)
- Growth charts for children with Down syndrome: 1 month to 18 years of age. (1988) (395)
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (2009) (389)
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. (2010) (381)
- Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination (2000) (379)
- Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. (1992) (371)
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009) (368)
- Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. (2007) (358)
- Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes (1996) (318)
- Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. (1999) (314)
- Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation (2004) (296)
- Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (2003) (294)
- Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! (2001) (292)
- Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. (1999) (281)
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (2005) (258)
- Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (2001) (250)
- Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion (2001) (248)
- Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (2002) (244)
- Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. (1995) (240)
- Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation (2008) (240)
- Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. (1995) (240)
- Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6‐year follow‐up (1995) (235)
- De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. (1999) (235)
- Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. (2001) (234)
- Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome (2005) (233)
- Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. (2007) (230)
- The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory (2001) (229)
- Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. (1993) (229)
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (2008) (228)
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication (2008) (225)
- Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. (1997) (223)
- A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (1997) (212)
- Human Chromosome 7: DNA Sequence and Biology (2003) (208)
- Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study (2005) (206)
- Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. (2003) (199)
- Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 (2007) (198)
- Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. (1986) (197)
- HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation (2006) (191)
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. (2015) (187)
- The association of the DiGeorge anomalad with partial monosomy of chromosome 22. (1982) (187)
- A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis (2012) (183)
- Down syndrome congenital heart disease: A narrowed region and a candidate gene (2001) (180)
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
- Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (2007) (175)
- Surgical Airway Management in Pierre Robin Sequence: Is There a Role for Tongue-Lip Adhesion? (2003) (169)
- Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. (1980) (167)
- Neurodevelopmental Outcomes After Staged Palliation for Hypoplastic Left Heart Syndrome (2008) (167)
- The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. (1997) (164)
- Early Diagnosis of Fibrodysplasia Ossificans Progressiva (2008) (159)
- Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome* (1996) (159)
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects (2017) (158)
- Jagged1 mutations in patients ascertained with isolated congenital heart defects. (1999) (155)
- Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome (2005) (152)
- Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects (2001) (150)
- Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. (2007) (149)
- Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. (1995) (146)
- Reanalysis of Clinical Exome Sequencing Data. (2019) (145)
- Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. (2002) (144)
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation (2015) (142)
- The fetal trimethadione syndrome. (1975) (137)
- Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (2009) (135)
- Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. (2004) (133)
- Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. (2004) (131)
- Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation (2006) (129)
- Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. (2015) (129)
- T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. (2004) (127)
- The Changing Epidemiologic Spectrum of Single-Suture Synostoses (2008) (124)
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (2017) (123)
- Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. (2009) (122)
- International Standing Committee on Human Cytogenetic Nomenclature (1976) (120)
- Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants (2017) (118)
- Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. (2000) (117)
- Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. (1997) (117)
- Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients (2007) (116)
- Constitutional 1p36 deletion in a child with neuroblastoma. (1993) (115)
- Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (1997) (115)
- Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. (2006) (114)
- A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. (1993) (113)
- CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features (2009) (113)
- Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals (2004) (113)
- Brainstem tumors in patients with neurofibromatosis type 1 (1995) (111)
- Molecular analysis of the 18q- syndrome--and correlation with phenotype. (1993) (106)
- Further delineation of cardiac abnormalities in Costello syndrome. (2002) (105)
- Physical mapping of the holoprosencephaly critical region in 18p11.3. (1995) (105)
- Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS (2012) (104)
- Otolaryngologic manifestations of the 22q11.2 deletion syndrome. (2002) (103)
- Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature (2007) (102)
- Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. (1989) (102)
- Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome) (1998) (102)
- The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. (1989) (102)
- Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated (2013) (101)
- Mutations in the human TWIST gene (2000) (101)
- Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. (2015) (100)
- Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. (1994) (98)
- Further delineation of Kabuki syndrome in 48 well‐defined new individuals (2005) (97)
- Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. (1990) (96)
- Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function (2009) (96)
- Deletions of different segments of the long arm of chromosome 4. (1981) (96)
- Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin (2015) (95)
- Apolipoprotein E Genotype Modifies the Risk of Behavior Problems After Infant Cardiac Surgery (2009) (93)
- Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. (1994) (93)
- Analysis of clinical variation seen in patients with 18q terminal deletions. (1995) (92)
- Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2 (2008) (92)
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management (2008) (92)
- The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. (2006) (91)
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (2017) (91)
- 22q11.2 deletion syndrome in diverse populations (2017) (91)
- Communication issues in 22q11.2 deletion syndrome: Children at risk (2001) (90)
- Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (2003) (90)
- CD4+ CD25+ T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia (2002) (89)
- Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. (2016) (89)
- Cerebellar atrophy in a patient with velocardiofacial syndrome. (1995) (88)
- Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion (2001) (86)
- Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. (1988) (86)
- A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children (2005) (85)
- Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A (2012) (85)
- Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. (1999) (84)
- Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) (1998) (83)
- Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? (2010) (83)
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies (2015) (82)
- Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. (2009) (81)
- Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. (1998) (80)
- Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. (2005) (79)
- Immune abnormalities are a frequent manifestation of Kabuki syndrome (2005) (78)
- Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (2010) (77)
- Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (2003) (77)
- Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. (2017) (76)
- Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities (2014) (76)
- Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). (1994) (76)
- Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. (1978) (76)
- Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) (1999) (75)
- A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. (1999) (75)
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia (2018) (75)
- Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. (1998) (75)
- Polymicrogyria in chromosome 22 deletion syndrome (1998) (75)
- Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). (2000) (74)
- Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient (1999) (74)
- Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies (2006) (73)
- Neurodevelopmental outcomes in preschool survivors of the Fontan procedure. (2014) (73)
- Genetic counseling for the 22q11.2 deletion. (2008) (73)
- Skeletal anomalies and deformities in patients with deletions of 22q11. (1997) (73)
- The pattern of cardiovascular malformation in the CHARGE association. (1987) (72)
- Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes (2008) (71)
- Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. (2003) (70)
- Duplication 3q syndrome: molecular delineation of the critical region. (1995) (70)
- Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy (2013) (69)
- Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. (2009) (69)
- Ring chromosome 7 with variable phenotypic expression. (1973) (69)
- Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations (2005) (67)
- Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals (2009) (67)
- Autosomal dominant inheritance of infantile myofibromatosis (2004) (65)
- Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients (2011) (65)
- Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients (2002) (65)
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion (2020) (64)
- Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome (2004) (64)
- 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening (2016) (64)
- Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure (2015) (64)
- Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. (2001) (64)
- Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. (1993) (63)
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. (2016) (63)
- Aortic root dilation in patients with 22q11.2 deletion syndrome (2009) (62)
- Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. (1997) (62)
- Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association (2003) (61)
- Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome (2015) (61)
- Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome (2003) (61)
- Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 (2019) (60)
- Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. (2008) (60)
- Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (60)
- Autoimmune disorders in Kabuki syndrome (2005) (59)
- Hyperglycemia after infant cardiac surgery does not adversely impact neurodevelopmental outcome. (2007) (59)
- Polytopic anomalies with agenesis of the lower vertebral column. (1999) (59)
- Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome (2015) (58)
- Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion (2004) (58)
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. (2013) (58)
- Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. (2002) (57)
- Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 (2009) (57)
- Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. (1998) (56)
- The 22q11.2 deletion in African‐American patients: An underdiagnosed population? (2005) (56)
- Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) (2006) (55)
- Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis (2013) (55)
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. (2015) (55)
- Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. (1998) (55)
- A dyadic approach to the delineation of diagnostic entities in clinical genomics. (2021) (54)
- Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. (1994) (54)
- Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome (2006) (54)
- Mutations in the human TWIST gene (2000) (53)
- Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome (2014) (53)
- De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (2014) (53)
- Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. (2009) (53)
- Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype (2011) (53)
- Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. (2015) (52)
- Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. (1994) (52)
- Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. (1997) (52)
- Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. (2004) (51)
- Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease (2010) (51)
- Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease (2005) (51)
- Paternal transmission of congenital myotonic dystrophy. (1994) (51)
- Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region (2007) (51)
- Increasing cumulative exposure to volatile anesthetic agents is associated with poorer neurodevelopmental outcomes in children with hypoplastic left heart syndrome. (2016) (50)
- Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome (2005) (50)
- Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening (2016) (50)
- Tracheal anomalies in Pfeiffer syndrome. (2004) (49)
- Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. (1983) (49)
- Intracranial visual pathway gliomas in children with neurofibromatosis. (1988) (49)
- Subthreshold psychotic symptoms in 22q11.2 deletion syndrome. (2014) (49)
- Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. (2016) (49)
- Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1991) (49)
- Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome (2016) (49)
- Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. (1993) (49)
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome (2018) (48)
- Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24 (2010) (48)
- High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. (1993) (48)
- Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome (2007) (48)
- Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays (2006) (48)
- Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum (2010) (47)
- Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. (2015) (47)
- Genitourinary malformations in chromosome 22q11.2 deletion. (2002) (47)
- Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome (2002) (47)
- Lateral meningocele syndrome: three new patients and review of the literature. (1997) (47)
- High cesarean section rate in trisomy 18 births: a potential indication for late prenatal diagnosis. (1981) (47)
- Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. (2000) (46)
- Molecular analysis of congenital scoliosis: a candidate gene approach (2005) (46)
- The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths (2017) (46)
- Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. (1987) (46)
- Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update (2016) (45)
- TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (1999) (45)
- The Natural History of Patients Treated for FGFR3-Associated (Muenke-Type) Craniosynostosis (2008) (44)
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks (2012) (44)
- On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. (1991) (44)
- A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. (1995) (44)
- Congenital Scoliosis and Vertebral Malformations: Characterization of Segmental Defects for Genetic Analysis (2004) (44)
- Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome (2007) (43)
- Diaphragmatic hernia in tetrasomy 12p mosaicism. (1993) (43)
- Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome (2012) (43)
- Ocular findings in the chromosome 22q11.2 deletion syndrome. (2007) (43)
- Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. (2002) (43)
- More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated (2013) (43)
- Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region (2012) (43)
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (2016) (42)
- A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). (2010) (42)
- Craniosynostosis: Another feature of the 22q11.2 deletion syndrome (2005) (42)
- Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. (2006) (42)
- The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias (2018) (41)
- 22q11.2 Deletion syndrome and obstructive sleep apnea. (2014) (41)
- Neuropsychiatry of 18q- syndrome. (1996) (41)
- Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome (2009) (41)
- Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata (2008) (40)
- Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. (1988) (40)
- Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study (2017) (40)
- Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. (1982) (40)
- Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients (2015) (40)
- Erratum: Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation( Pediatrics (2008) 121 (404-410)) (2008) (39)
- Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness. (2020) (39)
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome (2014) (39)
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients (2020) (39)
- Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion (1991) (39)
- Neonatal presentation of I-cell disease. (1978) (39)
- A 35-Year Experience With Syndromic Cleft Palate Repair: Operative Outcomes and Long-term Speech Function (2014) (39)
- Metopic craniosynostosis due to mutations in GLI3: A novel association (2010) (39)
- Association of airway abnormalities with 22q11.2 deletion syndrome. (2017) (38)
- Childhood neurofibromatosis: risk factors for malignant disease. (1986) (38)
- Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases (2008) (38)
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25 (2011) (38)
- Neuropathological Findings in Eight Children with Cerebro‐oculo‐facio‐skeletal (COFS) Syndrome (1997) (38)
- De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies (2018) (38)
- The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (38)
- A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) (2011) (37)
- Prevalence of 22 q 1 1 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis (37)
- Toriello–Carey syndrome: Delineation and review (2003) (37)
- Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome (2016) (37)
- New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. (1993) (37)
- Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis (2012) (37)
- Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21 (2003) (36)
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. (2019) (36)
- Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome (2006) (36)
- Genetic factors are important determinants of impaired growth after infant cardiac surgery. (2010) (36)
- Critical region within 22q11.2 linked to higher rate of autism spectrum disorder (2017) (36)
- Cystic kidney disease in Hajdu-Cheney syndrome. (1995) (36)
- Congenital heart disease in supernumerary der(22), t(11;22) syndrome (1986) (35)
- Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. (1996) (35)
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers (2018) (35)
- Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature (2014) (35)
- Rates of autism and potential risk factors in children with congenital heart defects (2017) (35)
- Partial duplication 1q: report of four patients and review of the literature. (1990) (35)
- Regional Brain Abnormalities in 22q11.2 Deletion Syndrome: Association With Cognitive Abilities and Behavioral Symptoms (2004) (35)
- Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. (1987) (35)
- Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. (2001) (35)
- Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. (2006) (35)
- Symptomatic Chiari I malformation in Kabuki syndrome (2005) (34)
- A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (1997) (34)
- Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data (2018) (33)
- An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B (2014) (33)
- Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome (2018) (33)
- Additional EFNB1 mutations in craniofrontonasal syndrome (2008) (33)
- Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome (2017) (33)
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
- Paternal origin of the de novo constitutional t(11;22)(q23;q11) (2010) (32)
- Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features (2013) (32)
- Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. (1998) (32)
- Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome (2018) (32)
- Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction. (2006) (32)
- Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome (2013) (32)
- The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen Syndrome (2009) (32)
- Infantile spasms associated with proximal duplication of chromosome 15q. (1996) (31)
- Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency (2017) (31)
- CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases (2014) (31)
- Cognitive development in VCFS (2002) (30)
- Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children (2012) (30)
- Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. (1976) (30)
- Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies (2004) (30)
- Sclerocornea associated with the chromosome 22q11.2 deletion syndrome (2008) (30)
- Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. (1997) (30)
- A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (1998) (30)
- Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? (1997) (30)
- The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder (2016) (30)
- Deletion of 2p: a cytogenetic and clinical update. (1987) (30)
- Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure. (1994) (29)
- Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis (2006) (29)
- Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome (2000) (29)
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (2019) (28)
- Contribution of congenital heart disease to neuropsychiatric outcome in school‐age children with 22q11.2 deletion syndrome (2014) (28)
- Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome (2004) (28)
- Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. (2000) (28)
- Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism (2014) (28)
- Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome (2005) (28)
- Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report (2001) (28)
- De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. (2018) (28)
- Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. (2006) (27)
- Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). (1998) (27)
- Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome (2014) (27)
- Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. (1995) (27)
- NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. (2018) (27)
- Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit (2016) (27)
- Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. (1987) (26)
- Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome (2015) (26)
- Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. (1989) (26)
- Patient genotypes impact survival after surgery for isolated congenital heart disease. (2014) (26)
- Thrombocytopenia with absent radius in a boy and his uncle. (1987) (26)
- Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. (2003) (25)
- MANGANESE deficiency. (2022) (24)
- A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21 (2010) (24)
- Long‐term follow‐up of three individuals with Kabuki syndrome (2004) (24)
- Tracheal cartilaginous sleeves in children with syndromic craniosynostosis (2016) (24)
- Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. (2013) (24)
- Holt‐Oram syndrome associated with the hypoplastic left heart syndrome (1989) (23)
- Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. (1995) (23)
- Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome. (2015) (23)
- 22q and two: 22q11.2 deletion syndrome and coexisting conditions (2018) (23)
- Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q (1996) (23)
- Familial partial trisomy of the long arm of chromosome 10 (q24-26). (1975) (23)
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome (2021) (23)
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. (1997) (22)
- Blepharo-cheilo-dontic (BCD) syndrome. (2009) (22)
- The 22q11.2 deletion syndrome. (2020) (22)
- Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? (1992) (22)
- Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients (2012) (21)
- Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome (2013) (21)
- Ankyloblepharon filiforme adnatum in trisomy 18. (1993) (21)
- A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. (2009) (21)
- Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings (2016) (21)
- Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. (1996) (21)
- Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome (2017) (20)
- Nasal dimple as part of the 22q11.2 deletion syndrome. (1997) (20)
- Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients (2018) (20)
- White matter microstructural deficits in 22q11.2 deletion syndrome (2017) (20)
- Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother. (1999) (20)
- Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array (2013) (20)
- Mosaic trisomy 17: Variable clinical and cytogenetic presentation (2011) (20)
- Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families. (1984) (20)
- Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion (2004) (20)
- Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects (2018) (20)
- Long-term follow-up of ocular findings in children with Stickler's syndrome. (1996) (20)
- B cell development in chromosome 22q11.2 deletion syndrome. (2016) (20)
- Parathyroid hormone reserve in 22q11.2 deletion syndrome (2008) (20)
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. (2019) (20)
- Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR) (2020) (19)
- X‐linked recessive aqueductal stenosis without macrocephaly (1988) (19)
- Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. (2001) (19)
- A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis (2001) (19)
- Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital (2018) (19)
- Hemizygous mutations in SNAP 29 unmask autosomal recessive conditions and contribute to atypical fi ndings in patients with 22 q 11 . 2 DS (2013) (19)
- Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. (1979) (19)
- 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype (2012) (19)
- A human case of SLC35A3‐related skeletal dysplasia (2017) (19)
- Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study (2017) (19)
- Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR (2011) (18)
- Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? (2015) (18)
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 (2018) (18)
- Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? (1994) (18)
- Phenotype delineation of ZNF462 related syndrome (2019) (18)
- Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities. (1988) (18)
- Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. (1997) (18)
- Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts (2016) (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)
- Early ultrasound diagnosis of Neu–Laxova syndrome (2001) (18)
- Congenital heart defects in oculodentodigital dysplasia: Report of two cases (2013) (17)
- Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases (2009) (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)
- Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction (2015) (17)
- Congenital diaphragmatic hernia in 22q11.2 deletion syndrome (2017) (17)
- Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion. (1992) (17)
- Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy (2020) (17)
- A 781‐kb deletion of 13q12.3 in a patient with Peters plus syndrome (2009) (17)
- Autosomal dominant {open_quotes}Opitz{close_quotes} GBBB syndrome due to a 22q11.2 deletion (1996) (17)
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants (2020) (17)
- De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features (2018) (17)
- Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence (2013) (17)
- Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing (2016) (16)
- Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia. (2021) (16)
- The role of cytologic NOR variants in the etiology of trisomy 21. (1989) (16)
- Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1 (2011) (16)
- Osteoglophonic dwarfism in two generations. (1983) (16)
- Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome (2018) (16)
- Stickler's syndrome in the Cleft Palate Clinic. (1990) (16)
- 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. (1993) (16)
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs (2021) (16)
- Classical Noonan syndrome is not associated with deletions of 22q11. (1995) (16)
- De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020) (16)
- What's in a name? The 22q11.2 deletion. (1997) (16)
- PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism (2018) (16)
- Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. (1993) (16)
- Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. (2017) (16)
- Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature (2007) (15)
- Omodysplasia: an affected mother and son. (2002) (15)
- The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome. (2017) (15)
- Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data (2018) (15)
- Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male (1988) (15)
- Ablepharon–Macrostomia syndrome—Extension of the phenotype (2011) (15)
- Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring (2008) (14)
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females (2020) (14)
- Not Antley-Bixler syndrome. (1999) (14)
- Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow-Up following Cardiac Surgery in Infancy (2012) (14)
- Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome (2018) (14)
- A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome (2020) (14)
- Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome (2003) (14)
- Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life‐Saving Care (2018) (14)
- Interstitial deletion of 4(q21q25) in a liveborn male. (1991) (14)
- Respiratory Complications of Metatropic Dwarfism (1985) (13)
- Kabuki syndrome as a cause of non‐immune fetal hydrops/ascites (2016) (13)
- Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome (2015) (13)
- Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births. (2005) (13)
- Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found (2003) (13)
- Complex chromosomal rearrangement and multiple spontaneous abortions (1986) (13)
- Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome (2019) (13)
- Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome (2007) (13)
- New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis (2015) (13)
- ANKRD11 variants: KBG syndrome and beyond (2021) (13)
- Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review (2018) (13)
- Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. (1996) (12)
- Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome (2019) (12)
- Amniotic Band Sequence (2005) (12)
- Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. (2006) (12)
- Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome (2019) (12)
- A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio‐oculo‐facial syndrome (2013) (12)
- EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients (2020) (12)
- Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion. (2005) (12)
- Arthritis associated with deletion of 22q11.2: more common than previously suspected. (1997) (12)
- Imaging studies in a unique familial dysmyelinating disorder. (1998) (12)
- Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve (2015) (12)
- A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings (2010) (12)
- Frontonasal malformation and cloacal exstrophy: a previously unreported association. (1996) (12)
- Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III) (2015) (12)
- A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia (2010) (12)
- PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. (1996) (12)
- Fetal akinesia deformation sequence due to a congenital disorder of glycosylation (2015) (12)
- EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features (2015) (12)
- A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. (2013) (11)
- Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition (2019) (11)
- Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome (2018) (11)
- Autosomal dominant mannose‐binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants (2017) (10)
- De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1) (1993) (10)
- Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. (2020) (10)
- The risk of neural tube defects to first cousins of affected individuals. (1978) (10)
- Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature (2021) (10)
- Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases (2019) (10)
- Novel variants in CDH2 are associated with a new syndrome including Peters anomaly (2019) (10)
- Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings. (1972) (10)
- Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation (2018) (10)
- Effect of congenital heart disease on 4‐year neurodevelopment within multiple‐gestation births (2017) (10)
- Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns. (2019) (10)
- Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia. (1995) (9)
- Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology. (2009) (9)
- Human malformations similar to those in the mouse mutation disorganization (Ds) (1993) (9)
- Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations (2019) (9)
- Neurologic challenges in 22q11.2 deletion syndrome (2018) (9)
- Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines (2021) (9)
- Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly‐capillary malformation syndrome (2013) (9)
- 6 – Human Peripheral Blood Leukocyte Cultures (1974) (9)
- Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics (2021) (9)
- A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias. (2001) (9)
- Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies (2015) (9)
- The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature (2019) (8)
- Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9 (2003) (8)
- A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD (2017) (8)
- Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis (2020) (8)
- Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis? (1997) (8)
- Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review. (1994) (8)
- A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage (2005) (8)
- Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders (2013) (7)
- Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138. (1977) (7)
- Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome (2018) (7)
- DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother (2005) (7)
- De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. (1987) (7)
- A (13) terminal deletion, 46 chromosomes (1975) (7)
- Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. (1991) (7)
- Tatton‐Brown‐Rahman syndrome: Six individuals with novel features (2020) (7)
- A catalog of hemizygous variation in 127 22q11 deletion patients (2016) (7)
- Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome (2018) (7)
- Disrupted anatomic networks in the 22q11.2 deletion syndrome (2016) (6)
- Robinow syndrome: a diagnosis at the fingertips. (2018) (6)
- De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures (2021) (6)
- Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome (2007) (6)
- Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. (1998) (6)
- Congenital glaucoma associated with a chromosomal abnormality. (1988) (6)
- Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome (2020) (6)
- Clinical observation: ocular abnormalities in a patient with Pfeiffer syndrome (acrocephalosyndactyly, type V). (1983) (6)
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. (2019) (6)
- Melorheostosis: Segmental Osteopoikilosis or a Separate Entity? (2015) (6)
- A (10;17) translocation, unbalanced, 46 chromosomes (1975) (6)
- Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome. (2018) (6)
- Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies (2015) (6)
- Ocular findings associated with chromosome 22q11.2 duplication. (2016) (6)
- Anomalies with ring D chromosome. (1972) (6)
- CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues (2017) (6)
- T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease. (2017) (6)
- Clinical and molecular diagnosis should be consistent (2003) (5)
- Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva (2016) (5)
- Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q) (1984) (5)
- Pediatric healthcare costs for patients with 22q11.2 deletion syndrome (2017) (5)
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2017) (5)
- Early language measures associated with later psychosis features in 22q11.2 deletion syndrome. (2020) (5)
- Cardiac evaluation of patients with 22q11.2 duplication syndrome (2020) (5)
- Crane‐Heise syndrome: A second familial case report with elaboration of phenotype (2003) (5)
- A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development (2019) (5)
- Late‐onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history (2013) (5)
- Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (5)
- Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay (2015) (5)
- Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? (1997) (5)
- Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. (1998) (5)
- Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies (2021) (5)
- A (10;17) translocation, balanced, 46 chromosomes (1975) (5)
- The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia. (1988) (5)
- Wilms tumor in an 11‐year‐old with hemihyperplasia (2005) (4)
- Chromatin Modifications in 22q11.2 Deletion Syndrome (2021) (4)
- Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. (2021) (4)
- A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes (2007) (4)
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome (2020) (4)
- Craniosynostosis: molecular testing-a necessity for counseling. (2000) (4)
- Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes (2021) (4)
- IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS (2016) (4)
- The Genomics of Congenital Diaphragmatic Hernia: A 10 Year Retrospective Review. (2022) (4)
- Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome (2018) (4)
- The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome (2018) (3)
- Molecular Diagnostic Outcomes from 700 Cases (2022) (3)
- Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies (2021) (3)
- Overlapping numerical cognition impairments in Chromosome 22q11.2 Deletion and Turner Syndromes. (2007) (3)
- DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME) (2020) (3)
- 10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence (2017) (3)
- Specific Chromosome Disorders in Newborns (2012) (3)
- Revision of “A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia” (2012) (3)
- Deletion 4q34.2. (1999) (3)
- Velo-Cardio-Facial Syndrome: Genetic counseling (2005) (3)
- Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy (2019) (3)
- Trisomy 21: rate in second-degree relatives. (1986) (3)
- Orofacial Manifestations of Stickler Syndrome (2020) (3)
- Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome (2017) (3)
- The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis (2022) (3)
- A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome. (2021) (2)
- Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status (2019) (2)
- Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features. (2020) (2)
- Neural tube defects, diabetes, and serum α-fetoprotein screening (1983) (2)
- GROWTH HORMONE DEFICIENCY IN THE 22Q11 DELETION SYNDROME: A REPORT OF THREE CASES. † 881 (1996) (2)
- Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018) (2)
- Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (2)
- Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures. (2020) (2)
- Genetics of Common Congenital Syndromes of the Head and Neck (2014) (2)
- DYSMORPHOLOGY, POOR SPEECH AND DEVELOPMENTAL DELAY: A POSSIBLE TRIMETHADIONE TERATOGENIC SYNDROME (1974) (2)
- “CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014 (2015) (2)
- Classical Wolf-Hirschhorn Syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region (1994) (2)
- Chapter 19 – Evaluation of the Dysmorphic Infant (2005) (2)
- MMP (2020) (2)
- A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response (2021) (2)
- Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array‐based CGH (2006) (2)
- Gene location in neurofibromatosis. (1988) (2)
- Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety (2020) (2)
- Molecular characterization of Pfeiffer syndrome: Implications for prognosis and genetic counseling. (2003) (2)
- Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome (2021) (2)
- Crouzon with Acanthosis Nigricans and Odontogenic Tumors (2018) (2)
- Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome (2021) (2)
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (2023) (1)
- A culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396. (1977) (1)
- A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981. (1978) (1)
- Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases. (2022) (1)
- Table 2. [Cardiac Findings in 222 Individuals with 22q11.2 Deletion Syndrome]. (2013) (1)
- CHARGE Syndrome vs. DiGeorge Syndrome: A Comparison of Immunologic and Non-immunologic Phenotypic Features (2009) (1)
- Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression (2022) (1)
- Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood (2022) (1)
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. (2022) (1)
- Neural tube defects, diabetes, and serum alpha-fetoprotein screening. (1983) (1)
- Atypical Williams syndrome in an infant with complete atrioventricular canal defect (2015) (1)
- A (13) terminal deletion, 46 chromosomes. Repository identification no. GM-250. (1975) (1)
- Effects of a functional COMT polymorphism on neurocognitive function in the 22Q deletion syndrome (2003) (1)
- Cytogenetic and Molecular Diagnoses of Hypotonia in the Newborn (2004) (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)
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (2016) (1)
- REVISED CLINICAL DEFINITION OF ALAGILLE SYNDROME BASED ONJAGGEDI MUTATION IDENTIFICATION (1998) (1)
- IDENTIFICATION OF PARTIAL TRISOMY 13 SYNDROME BY DNA REPLICATION STUDIES (1977) (1)
- Psychosis Risk In 22Q11.2 Deletion Syndrome: Findings From The Philadelphia Sample (2017) (1)
- Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study (2022) (1)
- Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (1)
- GRIN2B Encephalopathy: Novel Findings (2017) (1)
- Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome (2021) (1)
- Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome. (2019) (1)
- Prevalence of 22q1 1 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis (1)
- Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome (2022) (1)
- Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. (2022) (1)
- Prevalence of22q11microdeletions inDiGeorge andvelocardiofacial syndromes: implications for genetic counselling andprenatal diagnosis (1993) (1)
- Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome (2021) (1)
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome (2021) (1)
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (DOI:10.1016/j.ajhg.2009.05.005) (2009) (1)
- A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder (2022) (1)
- Genes in craniosynostosis (1998) (1)
- Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients (2021) (1)
- A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation (1977) (1)
- Surgical insights and management in patients with the 22q11.2 deletion syndrome (2022) (1)
- X-Autosome translocations: X-inactivation and effect on phenotype. (2021) (1)
- Muenke syndrome: Medical and surgical comorbidities and long‐term management (2019) (1)
- Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing (2020) (0)
- Assessing Copy Number Variants Involving ACMGG Secondary Finding Genes Identified by Routine Chromosomal SNP Array in a Clinical Pediatric Population (2016) (0)
- Cerebellar atrophy inapatient with velocardiofacial syndrome (1995) (0)
- Cytogenetic and Molecular Characterization of Inverted Duplicated Chromosomes 1 5 from I I Patients (2007) (0)
- Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data (2018) (0)
- Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications (2023) (0)
- Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency (2017) (0)
- Changes In Aortic Root Size Over Time In Patients with 22Q11.2 Deletion Syndrome (2021) (0)
- Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
- Book Review:The Genetics of Hand Malformations. Samia A. Temtamy, Victor A. McKusick (1979) (0)
- Figure 2. [The majority of affected individuals...]. (2013) (0)
- Syndromes and the study of autism (2013) (0)
- A (14;20) balanced translocation, 46,XX (1978) (0)
- A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a Surviving Male Patient with FLNA Mutation (2021) (0)
- Figure 2. [Four individuals with Emanuel syndrome...]. (2015) (0)
- Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome (2023) (0)
- TheRoleofCytologic NOR Variants inthe Etiology ofTrisomy 21 (1989) (0)
- A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome (2022) (0)
- 217. The neurobehavioral phenotype of the 22Q11.2 deletion syndrome (2000) (0)
- A UNIQUE CONSTELLATION OF NEUROPATHOLOGIC FINDINGS IN TWO SIBLINGS WITH OTHER MALFORMATIONS (1998) (0)
- Spondyloepiphseal dysplasia congenita in siblings born to unaffected parents: ? germ line mosaicism (1994) (0)
- with or without aortic arch obstruction Neurodevelopmental outcome after early repair of a ventricular septal defect (2013) (0)
- Cardiac Evaluation of Patients With 22Q11.2 Duplications (2021) (0)
- NEUROCOGNITIVE FUNCTIONING IN 22Q11.2 DELETION SYNDROME (2014) (0)
- DELINEATION OF CEREBRO-OCULO-FACIAL-SKELETAL (COFS) SYNDROME. † 478 (1996) (0)
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency (2021) (0)
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes (2021) (0)
- Expanding the reproductive organ phenotype of CHD7‐spectrum disorder (2023) (0)
- P249: Phenotypic findings associated with nested 22q11.2 deletions* (2023) (0)
- Figure 1 : [A. Karyotype and schematic ideogram...]. (2015) (0)
- Cover Image, Volume 173A, Number 4, April 2017. (2017) (0)
- Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2018) (0)
- CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations (2020) (0)
- Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (0)
- Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder (2023) (0)
- Alu-mediated deletions and point mutations within the FOX transcription factor gene cluster on 16q24.1 result in alveolar capillary dysplasia/misalignment of pulmonary veins and multiple congenital ma (2009) (0)
- Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements (2017) (0)
- Metabolic Fatty Liver Disease (2009) (0)
- Figure 1. [22q11.2DS is thought to result...]. (2013) (0)
- 916. Emergence, Remittance, and Persistence of Psychosis Symptoms in 22q11.2 Deletion Syndrome (2017) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in the 22q11.2 Deletion Syndrome]. (2013) (0)
- P248: Is 22q11.2 deletion syndrome truly less common in Black patients? (2023) (0)
- Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome (2020) (0)
- A (10;17) translocation, 46 chromosomes. Repository identification No. GM-959. (1976) (0)
- Clinical and mutational spectrum of the Legius syndrome (or NF1-Like syndrome) (2009) (0)
- TO JMG Characterisation of deletions of the ZFHX 1 B region and genotype-phenotype analysis in Mowat-Wilson syndrome (2003) (0)
- Mild hyperphenylalaninemia (2020) (0)
- Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome. (2023) (0)
- Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131]. (2019) (0)
- The 22q11.2 Deletion Syndrome: Second Hit Copy Number Variants and Conotruncal Heart Defects (2011) (0)
- Mapping of a gene for Pfeiffer syndrome and evidence for genetic heterogeneity (1994) (0)
- Title: Attention Deficit Hyperactivity Disorder symptoms and psychosis in 22q11.2 Deletion syndrome Running title: ADHD and psychosis in 22q11.2DS Authors and affiliations: (2018) (0)
- Sequence based evaluation of the remaining allele in 22q11.2 deletion patients (2016) (0)
- Author ’ s Accepted Manuscript White matter microstructural deficits in 22 q 11 . 2 deletion syndrome (2017) (0)
- Recurrent de novo missense mutations in PP1CB cause a novel rasopathy closely resembling Noonan syndrome with loose anagen hair (Reviewer choice) (2016) (0)
- Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism (2022) (0)
- Metopic Craniosynostosis Syndrome Due to Mutations in GLI3 (2011) (0)
- A (14;20) balanced translocation, 46, XX. Repository identification No. GM-982. (1978) (0)
- Congenital Amniotic Band Syndrome and MLL Rearranged Neonatal Leukemia in an Infant with Multiple Pre-Conception and In Utero Exposures. (2006) (0)
- MMA (2020) (0)
- A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development (2019) (0)
- Our Readers and Contributors. (0)
- Toriello-Carey syndrome (2003) (0)
- Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649–1665. Doi:10.1002/ajmg.a.62124” (2022) (0)
- A review of three cases of combined partial trisomy for 6q23fwdarwter and partial monosomy for 10q26fwdarwter (1997) (0)
- Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (0)
- Implementation of telemedicine-based pediatric genetics care at the Children’s Hospital of Philadelphia (2021) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Emanuel Syndrome]. (2015) (0)
- 1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experience (2018) (0)
- CRANIOSYNOSTOSIS SYNDROMES (2020) (0)
- Cover Image, Volume 176A, Number 10, October 2018 (2018) (0)
- 30. Characterization of Idiopathic Autism and 22q11.2 Syndromic Forms of Autism (2017) (0)
- The microdeletion syndromes (2005) (0)
- Chapter 130 – Genetic Syndromes Caused by Chromosomal Abnormalities (2007) (0)
- Table of Contents, Volume 170A, Number 12, December 2016 (2016) (0)
- The Dysmorphic Infant (2018) (0)
- A (10;17) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-217. (1975) (0)
- Phenotypic Features Chromosome 22 q 11 . 2 Deletion Syndrome : A Comparison of Immunologic and Development , Genital Hypoplasia (2009) (0)
- A (10;17) translocation, balanced, 46 chromosomes. Repository identification No. GM-216. (1975) (0)
- Detecting 22q11.2 Deletion Syndrome Using Flow Cytometry (2014) (0)
- Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (2023) (0)
- 34. Genome-wide mosaicism, chimerism, and contamination: Recognizing and interpreting genotyping patterns from SNP arrays (2018) (0)
- Chapter 17. Craniosynostosis Syndromes (2010) (0)
- Oriinal articles Paternal transmission ofcongenital myotonic dystrophy (1994) (0)
- Altered Functional Brain Dynamics During Facial Affect Processing in Chromosome 22q11.2 Deletion Syndrome (2020) (0)
- applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental (2009) (0)
- PSYCHO-EDUCATIONAL CHARACTERIZATION OF PATIENTS WITH A 22Q11.2 DELETION. 878 (1996) (0)
- Syndrome/Velocardiofacial Syndrome) Syndrome (DiGeorge Life in Chromosome 22q11.2 Deletion Function and Numbers in the First Year of Longitudinal Analysis of Lymphocyte (2013) (0)
- CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction (2020) (0)
- 56B: THE ROLE OF FGFR2 MUTATIONS ON PHENOTYPES AND SURGICAL OUTCOMES IN PATIENTS WITH APERT, CROUZON AND PFEIFFER SYNDROMES (2010) (0)
- Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder (2020) (0)
- 181 Prenatally identified kidney and urinary tract abnormalities in 17q12 deletion (2018) (0)
- Velocardiofacial Syndrome (2020) (0)
- Cover Image, Volume 170A, Number 5, May 2016. (2016) (0)
- Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism (2022) (0)
- Neurodevelopmental Outcome Hyperglycemia After Infant Cardiac Surgery Does Not Adversely Impact (2013) (0)
- Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome (2023) (0)
- Nonimmunologic Phenotypic Features Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and (2012) (0)
- Author response for "ANKRD11 variants: KBG syndrome and beyond" (2021) (0)
- The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
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