Published in Invest Ophthalmol Vis Sci on February 17, 2010
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
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
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol (2005) 2.62
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol (2004) 1.97
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Corneal ectasia after photorefractive keratectomy for low myopia. Ophthalmology (2006) 1.92
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet (2003) 1.61
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab (2004) 1.53
Axial length of myopia: a review of current research. Ophthalmologica (2010) 1.51
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
The place of 'social sexing' in medicine and science. Hum Reprod (2002) 1.44
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol (2007) 1.34
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet (2008) 1.23
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum Mutat (2009) 1.20
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet (2005) 1.16
Functional disomy of the Xq28 chromosome region. Eur J Hum Genet (2005) 1.15
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet (2006) 1.11
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet A (2007) 1.09
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet (2006) 1.08
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat (2011) 1.08
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int (2011) 1.07
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet (2005) 1.07
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet (2013) 1.04
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A (2007) 1.03
Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia. Pediatr Res (2004) 1.02
OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet (2012) 1.02
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci (2009) 1.01
ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS One (2012) 1.01
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci (2010) 1.00
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology (2011) 0.97
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab (2010) 0.97
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet (2003) 0.97
PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A (2010) 0.96
Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience. J Androl (2002) 0.96
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet (2012) 0.96
Donnai-Barrow syndrome: four additional patients. Am J Med Genet A (2003) 0.95
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet (2013) 0.95
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet (2009) 0.94
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. Hum Mutat (2007) 0.93
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A (2013) 0.93
A 23-year-old woman with Down syndrome, type 1 neurofibromatosis, and breast carcinoma. Am J Med Genet A (2004) 0.92
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet (2012) 0.91
Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. Invest Ophthalmol Vis Sci (2011) 0.91
Exonic deletions of FXN and early-onset Friedreich ataxia. Arch Neurol (2012) 0.90
Linkage analysis of high myopia susceptibility locus in 26 families. Mol Vis (2008) 0.90
Expression of the SMADIP1 gene during early human development. Mech Dev (2002) 0.90
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. Eur J Hum Genet (2002) 0.89
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet (2011) 0.89
Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet (2005) 0.88
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet (2005) 0.88
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol (2006) 0.87
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet (2013) 0.87
Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Hum Reprod (2003) 0.87
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol (2013) 0.86
Quality of DNA extracted from mouthwashes. PLoS One (2009) 0.86
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. Eur J Hum Genet (2009) 0.86
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. Invest Ophthalmol Vis Sci (2012) 0.86
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. Invest Ophthalmol Vis Sci (2013) 0.86
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenat Diagn (2006) 0.85
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet (2005) 0.84
BBS10 mutations are common in 'Meckel'-type cystic kidneys. J Med Genet (2010) 0.84