Stanislas Lyonnet

Stanislas Lyonnet's AcademicInfluence.com Rankings

Stanislas Lyonnet

Biology

#6228

World Rank

#8898

Historical Rank

Genetics

#575

World Rank

#655

Historical Rank

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Biology

Why Is Stanislas Lyonnet Influential?

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According to Wikipedia, Stanislas Lyonnet is a French geneticist. As of 2012 he was Professor of genetics at Paris Descartes University, and a clinical geneticist in the Department of Medical Genetics at the Hôpital Necker - Enfants Malades. His research is aimed at isolating the genes that cause congenital malformation and birth defects.

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Stanislas Lyonnet'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

Lamin A Truncation in Hutchinson-Gilford Progeria (2003) (1323)
Hirschsprung disease, associated syndromes and genetics: a review (2001) (1044)
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family (1997) (921)
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma (2008) (863)
SOX10 mutations in patients with Waardenburg-Hirschsprung disease (1998) (810)
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (2003) (782)
Mutations of the RET proto-oncogene in Hirschsprung's disease (1994) (737)
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells (2008) (445)
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) (1996) (438)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (2009) (371)
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. (2004) (365)
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) (2005) (349)
miR-122, a paradigm for the role of microRNAs in the liver. (2008) (348)
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders (2006) (315)
Targeted therapy in patients with PIK3CA-related overgrowth syndrome (2018) (312)
Mutant WD-repeat protein in triple-A syndrome (2000) (287)
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. (2007) (274)
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases (2011) (272)
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 (2009) (271)
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (2007) (265)
Segregation at three loci explains familial and population risk in Hirschsprung disease (2002) (265)
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021) (257)
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. (1994) (252)
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (2005) (252)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (2007) (240)
Nuclear Outsourcing of RNA Interference Components to Human Mitochondria (2011) (239)
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (2005) (234)
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. (2010) (232)
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. (2001) (231)
Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans (2011) (227)
CHARGE syndrome: report of 47 cases and review. (1998) (225)
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. (1995) (223)
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (2011) (216)
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease (1996) (215)
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development (2005) (212)
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. (1996) (201)
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. (2000) (201)
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders (2009) (197)
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome (2010) (193)
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis (2007) (187)
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. (2007) (183)
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 (1993) (183)
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. (2001) (177)
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)
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (1998) (172)
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (2002) (166)
Long-range regulation at the SOX9 locus in development and disease (2009) (160)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development (2011) (159)
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (2000) (158)
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (2001) (154)
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (2004) (150)
Polyalanine expansions in human. (2004) (139)
Pierre Robin sequence: a series of 117 consecutive cases. (2001) (138)
Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome (2003) (137)
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome (2009) (135)
TCTN3 mutations cause Mohr-Majewski syndrome. (2012) (134)
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. (1991) (133)
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. (2005) (131)
Germline deletion of the miR-17 ~ 92 cluster causes skeletal and growth defects in humans (2011) (131)
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. (2013) (130)
Spectrum of NSD1 mutations in Sotos and Weaver syndromes (2003) (127)
Noonan syndrome: relationships between genotype, growth, and growth factors. (2006) (127)
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. (2006) (125)
Estimating the age of rare disease mutations: the example of Triple-A syndrome (2004) (123)
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. (2016) (123)
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (2004) (119)
Mutations of the RET-GDNF signaling pathway in Ondine's curse. (1998) (118)
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. (2015) (117)
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. (2012) (115)
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 (2016) (114)
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. (2016) (113)
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. (2001) (112)
Human neural crest cells display molecular and phenotypic hallmarks of stem cells (2008) (109)
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium (2014) (108)
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. (1998) (105)
PAX2 mutations in oligomeganephronia. (2001) (105)
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. (2005) (104)
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients (2015) (102)
Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. (2001) (101)
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies (1998) (101)
Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease (1997) (99)
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. (2013) (98)
Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France (2011) (98)
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male (2001) (97)
XNP mutation in a large family with Juberg-Marsidi syndrome (1996) (97)
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. (2014) (96)
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. (2001) (96)
Molecular bases of human neurocristopathies. (2006) (94)
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders (2008) (94)
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation (2007) (93)
Hirschsprung disease, associated syndromes, and genetics: a review (2001) (93)
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo‐obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation (2000) (93)
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia–ventricular septal defect (1998) (92)
Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. (2000) (91)
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance (2009) (90)
A duplication in the L1CAM gene associated with X–linked hydrocephalus (1993) (90)
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development (2017) (88)
Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling (2010) (87)
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (2012) (87)
PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism (2000) (86)
An overview of isolated and syndromic oesophageal atresia (2007) (86)
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion (1999) (85)
CpG dinucleotides are mutation hot spots in phenylketonuria. (1989) (85)
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction (2011) (84)
TP63 gene mutation in ADULT syndrome (2001) (84)
Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls. (2007) (83)
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families (2009) (82)
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (2008) (82)
Genetics of limb anomalies in humans. (1999) (82)
Ret in human development and oncogenesis (1997) (82)
microRNAs in diseases: from candidate to modifier genes (2010) (81)
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation (2002) (81)
A review of craniofacial disorders caused by spliceosomal defects (2015) (81)
Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions. (2008) (80)
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease (2007) (80)
Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability (2007) (79)
Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature (2004) (79)
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome (2004) (78)
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). (2003) (78)
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. (1994) (77)
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. (2003) (76)
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. (2001) (75)
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form (2014) (75)
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (2012) (74)
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development (2000) (74)
Parieto-occipital grey matter abnormalities in children with Williams syndrome (2006) (74)
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation (2008) (73)
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. (2015) (72)
Sources of propionate in inborn errors of propionate metabolism. (1990) (72)
Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss‐of‐function? (1999) (72)
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. (1989) (71)
C5orf42 is the major gene responsible for OFD syndrome type VI (2014) (71)
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence (2014) (68)
New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). (2006) (68)
Clinical and genetic heterogeneity of Seckel syndrome. (2002) (66)
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome (2004) (66)
Expression of the RET proto-oncogene in human embryos. (1998) (65)
Mechanical properties of the common carotid artery in Williams syndrome (2000) (65)
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates (2015) (64)
Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling (2009) (63)
Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome (2008) (63)
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. (2000) (63)
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation (2000) (62)
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. (2014) (61)
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation (2001) (61)
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (2013) (61)
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes (2017) (61)
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) (58)
Features of DiGeorge syndrome and CHARGE association in five patients. (1997) (58)
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization (2015) (58)
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association (2009) (57)
Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus (2005) (56)
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. (2002) (56)
Arterial tortuosity syndrome: 40 new families and literature review (2017) (56)
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. (2017) (56)
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease (2009) (55)
Functional Characterization of Three Mutations of the Endothelin B Receptor Gene in Patients With Hirschsprung’s Disease: Evidence for Selective Loss of Gi Coupling (2001) (55)
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene (2018) (54)
PHOX2B gene mutation in a patient with late‐onset central hypoventilation (2004) (53)
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes (2005) (53)
Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism? (2005) (52)
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome (2017) (52)
A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 (1994) (51)
Early prognostic factors for intellectual outcome in CHARGE syndrome. (2003) (51)
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy (2012) (50)
Deletion of Pten in the mouse enteric nervous system induces ganglioneuromatosis and mimics intestinal pseudoobstruction. (2009) (50)
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. (2012) (50)
Further delineation of the KAT6B molecular and phenotypic spectrum (2014) (49)
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation (2009) (49)
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. (2017) (49)
Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomaly (2005) (49)
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up (2000) (48)
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. (1996) (48)
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies (2013) (47)
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. (1991) (47)
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. (2002) (47)
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity (2014) (47)
ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation (2012) (47)
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. (2013) (47)
Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. (2006) (46)
Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases (2005) (46)
Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? (1999) (46)
Recombinant interferon α2a is effective in the treatment of discoid and subacute cutaneous lupus erythematosus (1990) (45)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2009) (45)
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations (2012) (44)
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis (2016) (44)
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. (1998) (44)
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients (2014) (43)
Le livre de Jonas (43)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia (2011) (43)
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (1996) (42)
Sternal cleft: case report and review of a series of nine patients. (1995) (41)
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. (1988) (40)
Vascular Wall Remodeling in Patients with Supravalvular Aortic Stenosis and Williams Beuren Syndrome (2005) (40)
Clinical and molecular overlap in overgrowth syndromes (2005) (40)
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (2013) (40)
The use of metronidazole in management of methylmalonic and propionic acidaemias (1990) (40)
Germline gain‐of‐function mutations of ALK disrupt central nervous system development (2011) (40)
Response of discoid and subacute cutaneous lupus erythematosus to recombinant interferon alpha 2a. (1990) (39)
Expression of the SMADIP1 gene during early human development (2002) (39)
Remission of Langerhans cell histiocytosis with thalidomide treatment (1993) (39)
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (2011) (39)
Mutations in BOREALIN cause thyroid dysgenesis (2016) (38)
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. (2002) (38)
Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles (2004) (38)
Investigation of germline GFRα-1 mutations in Hirschsprung disease (1999) (38)
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies (2022) (37)
Genetics and early disturbances of breathing control. (2004) (37)
Increased paternal age in CHARGE association (1996) (37)
Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children (2006) (37)
Disseminated superficial porokeratosis in a patient with AIDS (1994) (37)
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. (2016) (36)
Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome (2005) (36)
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment (2013) (36)
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 (2014) (35)
Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. (1997) (35)
In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver. (1988) (35)
Congenital Heart Defects in Patients with Deletions Upstream of SOX9 (2013) (35)
GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA (1988) (35)
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. (2021) (34)
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. (2015) (34)
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. (1998) (34)
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. (1997) (34)
Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families (2009) (33)
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. (2016) (33)
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly (2019) (33)
Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes (2013) (33)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2007) (32)
Upper limb malformations in DiGeorge syndrome. (1995) (32)
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation (2009) (32)
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
Diagnosis support systems for rare diseases: a scoping review (2020) (32)
Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience (2017) (31)
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish (2015) (31)
Three new cases of the Schinzel-Giedion syndrome and review of the literature. (1994) (31)
Presentation of six cases of Stüve-Wiedemann syndrome (1998) (31)
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development (2015) (30)
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease (2005) (30)
A CGH study of 27 patients with CHARGE association (2002) (30)
Neurofibromatose 1 : recommandations de prise en charge (2002) (30)
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. (1994) (30)
RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability (2015) (30)
Neurofibromatose 1 : recommandations pour la prise en charge (2001) (29)
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study (2014) (29)
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome (1998) (29)
Differential effects of glucose and fructose on liver L-type pyruvate kinase gene expression in vivo. (1987) (29)
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) (2008) (28)
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome (2020) (28)
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. (1994) (28)
Cholinergic switch associated with morphological differentiation in neuroblastoma (2009) (28)
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (2019) (28)
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. (2006) (27)
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype (2001) (27)
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability (2013) (27)
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. (2004) (26)
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease (2013) (26)
Le livre des proverbes (1965) (26)
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness (2005) (26)
Skin elastic fibers in Williams syndrome. (1999) (26)
Ebstein anomaly associated with rearrangements of chromosomal region 11q. (1998) (26)
Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis (1998) (26)
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52. (1992) (26)
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (1996) (26)
Apolipoprotein-E-gene expression in rat liver during development in relation to insulin and glucagon. (1989) (26)
Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia (2013) (26)
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (1995) (25)
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations (2017) (25)
The Deep Genome Project (2020) (25)
Additional clinical and molecular analyses of TFAP2A in patients with the branchio‐oculo‐facial syndrome (2010) (25)
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. (1999) (25)
[Neurofibromatosis 1: recommendations for management]. (2001) (25)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (25)
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De-novo mutations of the RET proto-oncogene in Hirschsprung's disease (1994) (24)
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy (2017) (23)
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. (1991) (23)
[Contribution of genetics]. (1999) (23)
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia (2016) (23)
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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. (2017) (23)
Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? (1996) (22)
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Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome (2000) (22)
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. (2020) (22)
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency (2010) (22)
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Pathways systematically associated to Hirschsprung’s disease (2013) (20)
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Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations (2013) (19)
Disruption of long‐distance highly conserved noncoding elements in neurocristopathies (2010) (19)
Relation of genotype 22 q 11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia – ventricular septal defect (1998) (19)
Le dysfonctionnement néonatal isolé du tronc cérébral (1996) (19)
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse) (2003) (19)
Anatomical and functional abnormalities on MRI in kabuki syndrome (2018) (19)
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Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. (2012) (18)
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. (1992) (18)
Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions (2007) (18)
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect (2014) (18)
X-linked hydrocephalus: Clinical heterogeneity at a single gene locus (1992) (17)
The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies (2022) (17)
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (1995) (17)
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. (1999) (17)
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. (1994) (17)
Genetic background of clinical homogeneity of phenylketonuria in Poland. (1993) (16)
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Mitochondria as Novel Players of the Cellular RNA Interference (2011) (16)
Gorlin syndrome presenting as prenatal chylothorax in a girl (2005) (15)
Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome (2015) (15)
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Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder? (2003) (14)
Efficiency of prenatal diagnosis in Pierre Robin sequence (2017) (14)
Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. (1994) (14)
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Polynesian ecology determines seasonality of biliary atresia (2011) (14)
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Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B) (2000) (11)
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P93 Effect of basic fibroblast growth factor on epidermal wound healing (1991) (0)
Un gène pour la maladie de Hirschprung localisé sur le bras long du chromosome 10 : une brèche dans le modèle multifactoriel des malformations de l'enfant. (1993) (0)
Prise en charge pédopsychiatrique des patients présentant un syndrome microdélétionnel 22q11.2 : du soin à la prévention (2018) (0)
Prise en charge pédopsychiatrique des patients présentant un syndrome microdélétionnel 22q11.2 : du soin à la prévention (2018) (0)
L'épître aux Romains et la traduction oecuménique de la Bible (1967) (0)
Chapitre premier - Tous semblables, tous différents (2017) (0)
L'essor de la génetique: quels bénéfices pour les enfants? (1996) (0)
La nature du culte chrétien dans le Nouveau Testament (2001) (0)
[Malformation syndromes associated with childhood cancer: an update]. (2010) (0)
Réinoblastome et anomalies cytogénétiques : à propos de 20 cas (1998) (0)
Chapitre VI - Diagnostic et conseils génétiques (2017) (0)
Chapitre III - Ça se mesure ! (2017) (0)
Endothélines et leurs récepteurs : de nouveaux acteurs du développement (1995) (0)
Bases genetiques de la phenylcetonurie en france (1992) (0)
Chapitre VII - Génétique, évolution, population (2017) (0)
Chapitre IX - Dans notre ADN : génétique et société (2017) (0)
Regards croisés sur une pathologie développementale d’origine génétique. (2016) (0)
La maladie de Hirschsprung : vers la compréhension des mécanismes de transmission d'une maladie multigénique (2002) (0)
Des malformations congénitales aux tumeurs de l'enfant (1998) (0)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (0)
Le gène ret, un nouveau venu en néphrologie (1997) (0)
BamHI site in phenylketonuria . Two distinct mutations at a single (0)
Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1 (2015) (0)
Iconography : Le syndrome Kabuki : mise au point et revue de la littérature (2015) (0)
Maladies rares, le modèle français (2016) (0)
En 2005, les articles de médecine/sciences ont été évalués grâce au concours des arbitres dont la liste suit : (2005) (0)
Chapitre IV - Recherche et génétique (2017) (0)
Anomalies du sillon parieto-occipital dans le syndrome de Williams (2005) (0)
Diagnostic rapide de la microdélétion interstitielle du chromosome 22 chez les nouveau-nés ayant une cardiopathie conotruncale (1996) (0)
An Automatic Facial Landmarking for Children with Craniofacial Malformations (2022) (0)
L'Évangile selon saint Marc (1961) (0)
Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
Chapitre VIII - C’est pas moi, c’est mes gènes ! (2017) (0)
Emm : un nouveau système de groupe sanguin associé à des troubles neurodéveloppementaux (2021) (0)
Title Whole exome sequencing coupled with unbiased functionalanalysis reveals new Hirschsprung disease genes (2017) (0)
Le syndrome de floating-harbor: présentation d'une nouvelle observation et revue de la littérature (1997) (0)
Un précurseur de l'oecuménisme: le commentaire de l'épître aux Romains par Lefèvre d'Etaples (1981) (0)
Chapitre V - L’ADN malade (2017) (0)
Features ofDiGeorge syndrome andCHARGE association infive patients (1997) (0)
SFCE-P35 – Cancérologie – A propos de trois cas familiaux de tumeurs hépatiques malignes (2008) (0)
Grands-parents et pratiques de génétique (2005) (0)
P265 - Cancers pédiatriques et anomalies du développement : de nouveaux syndromes à caractériser (2010) (0)
Diagnostic prénatal en dermatologie (1999) (0)
Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) (2015) (0)
Le diagnostic prénatal de la mucoviscidose (1990) (0)
Isolation and transcriptional profiling of embryonic human neural crest cells (2016) (0)
CL004 - Expression de marqueurs de pluripotence dans des cellules de tératome sacro-coccygien (2010) (0)
La phenylcétonurie, du golfe du Morbihan à l'estuaire du Saint-Laurent...Un marqueur de démographie historique inattendu ! (1992) (0)
Comment le programme d’investissements d’avenir a-t-il stimulé la recherche et l’innovation en santé? (2022) (0)
Single worldwide origin for a common low-penetrance RET mutation in Hirschsprung disease (HSCR) (2007) (0)
Saint Paul et le gnosticisme: L’épître aux Colossiens (1967) (0)
CENTRAL NERVOUS SYSTEM GENES TO THE DEVELOPMENT OF THE ENTERIC NERVOUS SYSTEM (2016) (0)
Génétique et maladie de Hirschsprung : Diagnostic de la maladie de Crohn chez l'enfant (2001) (0)
Le dysfonctionnement néonatal du trone cérébral (1995) (0)
[Impact of genetic information about diseases "not like the others"]. (2003) (0)
PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy (2018) (0)
SFP-P214 – Génétique – Identification des bases moléculaires du syndrome de Pitt-Hopkins, une encéphalopathie convulsivante associé à une anomalie du contrôle central de la ventilation (2008) (0)
Génétique moléculaire et diagnostic prénatal (1992) (0)
Génome et ses données : entre science et soins (2023) (0)
Les Épitres de saint Paul a Timothée et a Tite (1963) (0)
Avancées en pédiatrie : génétique : Les avancées en pédiatrie 1999 (2000) (0)
The Deep Genome Project (2020) (0)
Chapitre II - Hérédité et maladie (2017) (0)
Correction: Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish (2015) (0)
Approche de la localisation du gène du nanisme diastrophique: à partir de l'analyse de sept familles (1995) (0)
Gène Ret (REarranged during transfection) (1998) (0)
deletionspalate in SMS is associated with larger CGH-array: Smith-Magenis Syndrome patients using Genotype-phenotype correlation of 30 (2007) (0)
Dysfonctionnement du tronc cérébral et cardiopathies congénitales (2000) (0)
[Congenital malformations in pediatric tumors]. (1998) (0)
[Rise of genetics: what are the benefits for children?]. (1996) (0)
Chapter 89. Fibrous Dysplasia (2008) (0)
How has the future investment program stimulated research and innovation in health? (2022) (0)
Israel-France Binational Symposium on ‘Hereditary Diseases, Molecular Diagnosis and Gene Therapy’ (1995) (0)
Proto-oncogène RET: Rôle dans le développement rénal et pathologie moléculaire (1998) (0)
1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene. (1997) (0)
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly (2019) (0)
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features (2019) (0)
Nasal speech in patients with 12q15 microdeletions (2011) (0)
314 - Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation (2010) (0)
Comment on: Monogenic mimics of Behçet's disease in the young. (2019) (0)
with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in (2009) (0)
The Coffin-Siris and Nicolaides Baraitser syndromes – clinical phenotypes of 43 prerviously unreported patients and mutational spectrum of the SWI/SNF complex (2012) (0)
Dermatological manifestations in cardiofaciocutaneous syndrome (2019) (0)
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays (2017) (0)
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]. (1989) (0)
Peroxisomes are enlarged in two patients with peroxisomal diseases: Novel cases (1991) (0)

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