Published in Am J Hum Genet on October 22, 2007
Primary anorectal melanoma: an update. J Cancer (2012) 1.55
Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage. J Cell Biol (2010) 1.48
Enteric nervous system development: migration, differentiation, and disease. Am J Physiol Gastrointest Liver Physiol (2013) 1.46
Sox proteins in melanocyte development and melanoma. Pigment Cell Melanoma Res (2010) 1.38
Development and developmental disorders of the enteric nervous system. Nat Rev Gastroenterol Hepatol (2012) 1.36
Analysis of early human neural crest development. Dev Biol (2010) 1.17
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet (2008) 1.16
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet (2013) 1.14
Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis. Dev Biol (2010) 1.00
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nat Commun (2016) 0.99
The armadillo repeat-containing protein, ARMCX3, physically and functionally interacts with the developmental regulatory factor Sox10. J Biol Chem (2009) 0.95
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJ Open (2013) 0.94
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet (2012) 0.93
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? Am J Med Genet A (2008) 0.93
A Sox10 enhancer element common to the otic placode and neural crest is activated by tissue-specific paralogs. Development (2011) 0.91
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient. J Mol Med (Berl) (2010) 0.90
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Mol Vis (2013) 0.89
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle. Dis Model Mech (2008) 0.87
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II. PLoS One (2013) 0.87
The etiology and molecular genetics of human pigmentation disorders. Wiley Interdiscip Rev Dev Biol (2012) 0.87
Targeted deletion of Sox10 by Wnt1-cre defects neuronal migration and projection in the mouse inner ear. PLoS One (2014) 0.86
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol Vis (2010) 0.84
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. BMC Med Genet (2010) 0.83
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum Genet (2011) 0.82
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes. Mol Syndromol (2011) 0.81
Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma. PLoS Genet (2015) 0.81
Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy. Mol Vis (2012) 0.81
A curated online resource for SOX10 and pigment cell molecular genetic pathways. Database (Oxford) (2010) 0.79
Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss. Dev Neurobiol (2015) 0.78
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. Am J Med Genet A (2014) 0.78
Genetics of Hearing Loss: Syndromic. Otolaryngol Clin North Am (2015) 0.77
Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. Med Oral Patol Oral Cir Bucal (2016) 0.77
Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons. Biol Open (2013) 0.77
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. PLoS One (2012) 0.76
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo. Anim Genet (2015) 0.76
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. J Hum Genet (2017) 0.75
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation. Neurol Genet (2017) 0.75
Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis). PLoS One (2017) 0.75
Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. Medicine (Baltimore) (2015) 0.75
TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genet (2017) 0.75
Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice. Mamm Genome (2014) 0.75
Clinical and genetic investigation of families with type II Waardenburg syndrome. Mol Med Rep (2016) 0.75
A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis. Eur J Pediatr (2011) 0.75
A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Mol Syndromol (2017) 0.75
Transcriptional inhibition in Schwann cell development and nerve regeneration. Neural Regen Res (2017) 0.75
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A (1986) 12.92
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet (1951) 12.38
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
From head to toes: the multiple facets of Sox proteins. Nucleic Acids Res (1999) 4.64
The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev (2001) 4.40
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell (1994) 4.35
Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. Dev Biol (2000) 3.90
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature (1992) 3.63
From stem cells to neurons and glia: a Soxist's view of neural development. Trends Neurosci (2005) 3.07
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet (1994) 2.99
SOX10 maintains multipotency and inhibits neuronal differentiation of neural crest stem cells. Neuron (2003) 2.98
Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev (2002) 2.98
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Waardenburg syndrome. J Med Genet (1997) 2.66
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet (2000) 2.63
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet (2005) 2.54
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr (1981) 2.51
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet (2000) 2.34
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
Protein zero gene expression is regulated by the glial transcription factor Sox10. Mol Cell Biol (2000) 2.11
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
22q13 deletion syndrome. Am J Med Genet (2001) 1.94
The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res (2000) 1.91
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet (2001) 1.80
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet (2000) 1.68
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet (2002) 1.64
Sorting out Sox10 functions in neural crest development. Bioessays (2006) 1.63
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet (2003) 1.59
Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol (2005) 1.57
Sox proteins and neural crest development. Semin Cell Dev Biol (2005) 1.57
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet (1996) 1.55
ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat (2007) 1.55
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol (1999) 1.54
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet (2003) 1.46
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem (2000) 1.45
Secrets to a healthy Sox life: lessons for melanocytes. Pigment Cell Res (2005) 1.41
Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol (1999) 1.41
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene (2003) 1.37
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet (2001) 1.37
Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest (2000) 1.37
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem (2000) 1.36
Transcriptional regulation of mitfa accounts for the sox10 requirement in zebrafish melanophore development. Development (2003) 1.34
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet (2000) 1.26
Endothelin receptor-mediated signaling in hirschsprung disease. Hum Mol Genet (1996) 1.26
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet (2005) 1.25
Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors. FEBS Lett (2004) 1.21
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet (2005) 1.20
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Hum Mutat (2007) 1.19
The tyrosinase enhancer is activated by Sox10 and Mitf in mouse melanocytes. Pigment Cell Res (2007) 1.18
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet (2004) 1.18
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17
Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Nat Genet (2004) 1.15
Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Res (2004) 1.14
Replacement of the Sox10 transcription factor by Sox8 reveals incomplete functional equivalence. Development (2006) 1.11
Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol (2007) 1.11
EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res (2001) 1.08
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet (2005) 1.07
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol (2002) 1.06
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. Ann Neurol (2000) 1.05
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet (2002) 1.04
Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. FEBS Lett (2006) 1.03
Cooperative binding of Sox10 to DNA: requirements and consequences. Nucleic Acids Res (2002) 1.03
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol (2004) 0.99
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Eur J Paediatr Neurol (2006) 0.92
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J Med Genet (2001) 0.88
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet (2001) 0.86
SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells. FEBS J (2006) 0.85
Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int (2003) 0.85
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Clin Chem (2004) 3.43
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet (2006) 2.63
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Review and update of mutations causing Waardenburg syndrome. Hum Mutat (2010) 2.59
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. Proc Natl Acad Sci U S A (2008) 2.19
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet (2005) 2.17
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol (2009) 2.12
Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet (2002) 2.06
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science (2011) 2.04
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 1.69
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? Am J Med Genet A (2005) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat (2009) 1.57
ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat (2007) 1.55
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis Rheum (2010) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. Hum Mutat (2014) 1.46
Late-onset central hypoventilation presenting as extubation failure. Isr Med Assoc J (2010) 1.46
Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A (2004) 1.45
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. Br J Haematol (2006) 1.44
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41
Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase. Haematologica (2005) 1.41
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A (2005) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay. Clin Dysmorphol (2009) 1.38
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest (2005) 1.36
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol (2010) 1.32
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J Cell Sci (2006) 1.30
A survey of assisted reproductive technology births and imprinting disorders. Hum Reprod (2007) 1.30
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clin Chem (2003) 1.27
Molecular bases of human neurocristopathies. Adv Exp Med Biol (2006) 1.26
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet (2002) 1.23
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Dev Biol (2006) 1.22
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol (2002) 1.22
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21