Published in Hum Mutat on November 01, 2008
Genetic regulation of pituitary gland development in human and mouse. Endocr Rev (2009) 2.02
Eye development genes and known syndromes. Mol Genet Metab (2011) 1.14
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet (2011) 1.07
Differential CRX and OTX2 expression in human retina and retinoblastoma. J Neurochem (2009) 1.03
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet (2011) 1.02
Deletion of Otx2 in GnRH neurons results in a mouse model of hypogonadotropic hypogonadism. Mol Endocrinol (2011) 0.97
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med (2013) 0.96
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis (2009) 0.95
Otx2 induction of the gonadotropin-releasing hormone promoter is modulated by direct interactions with Grg co-repressors. J Biol Chem (2009) 0.93
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet (2012) 0.90
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Mol Vis (2009) 0.90
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Eur J Hum Genet (2015) 0.84
Otx but not Mitf transcription factors are required for zebrafish retinal pigment epithelium development. PLoS One (2012) 0.84
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis (2013) 0.84
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Hum Genet (2010) 0.83
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay. J Reprod Infertil (2012) 0.82
Gene dosage of Otx2 is important for fertility in male mice. Mol Cell Endocrinol (2013) 0.82
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet (2010) 0.82
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis (2009) 0.81
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet (2014) 0.81
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev (2016) 0.80
MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies. Mol Vis (2009) 0.79
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23. Mol Cytogenet (2014) 0.78
Deletion of OTX2 in neural ectoderm delays anterior pituitary development. Hum Mol Genet (2014) 0.78
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today (2015) 0.76
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. Eur J Hum Genet (2017) 0.75
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Mol Vis (2010) 0.75
A Comparative Transcriptomic Analysis of Development in Two Astyanax Cavefish Populations. J Exp Zool B Mol Dev Evol (2017) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial. Lancet (2002) 12.16
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnosis of hepatic nodules 20 mm or smaller in cirrhosis: Prospective validation of the noninvasive diagnostic criteria for hepatocellular carcinoma. Hepatology (2008) 6.75
Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics. J Hepatol (2006) 5.17
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
Rapid magnetic resonance imaging vs radiographs for patients with low back pain: a randomized controlled trial. JAMA (2003) 4.52
Comprehensive geriatric assessment for older adults admitted to hospital: meta-analysis of randomised controlled trials. BMJ (2011) 4.34
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet (2005) 3.86
Comprehensive geriatric assessment for older adults admitted to hospital. Cochrane Database Syst Rev (2011) 3.71
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science (2009) 3.62
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol (2010) 3.07
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Intrahepatic peripheral cholangiocarcinoma in cirrhosis patients may display a vascular pattern similar to hepatocellular carcinoma on contrast-enhanced ultrasound. Hepatology (2010) 2.61
Initial response to percutaneous ablation predicts survival in patients with hepatocellular carcinoma. Hepatology (2004) 2.54
Survival of patients with hepatocellular carcinoma treated by transarterial chemoembolisation (TACE) using Drug Eluting Beads. Implications for clinical practice and trial design. J Hepatol (2012) 2.53
A dynamic model of Rubisco turnover in cereal leaves. New Phytol (2006) 2.47
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation (2006) 2.41
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Highly active antiretroviral therapy and the incidence of non-AIDS-defining cancers in people with HIV infection. J Clin Oncol (2008) 2.38
Evaluation of tumor response after locoregional therapies in hepatocellular carcinoma: are response evaluation criteria in solid tumors reliable? Cancer (2009) 2.38
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
A method for counting PCR template molecules with application to next-generation sequencing. Nucleic Acids Res (2011) 2.23
Treatment of neonatal sepsis with intravenous immune globulin. N Engl J Med (2011) 2.22
National comparisons of lung cancer survival in England, Norway and Sweden 2001-2004: differences occur early in follow-up. Thorax (2010) 2.21
Antibodies to porphyromonas gingivalis are associated with anticitrullinated protein antibodies in patients with rheumatoid arthritis and their relatives. J Rheumatol (2010) 2.21
Cholangiocarcinoma in cirrhosis: absence of contrast washout in delayed phases by magnetic resonance imaging avoids misdiagnosis of hepatocellular carcinoma. Hepatology (2009) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Differentiation stage determines pathologic and protective allergen-specific CD4+ T-cell outcomes during specific immunotherapy. J Allergy Clin Immunol (2011) 2.04
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol (2006) 2.02
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Magnetic resonance imaging for evaluation of Crohn's disease: validation of parameters of severity and quantitative index of activity. Inflamm Bowel Dis (2010) 1.91
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet (2008) 1.86
MRI angiography is superior to helical CT for detection of HCC prior to liver transplantation: an explant correlation. Hepatology (2003) 1.85
Modelling cereal root systems for water and nitrogen capture: towards an economic optimum. Ann Bot (2003) 1.83
Preoperative staging and tumor resectability assessment of pancreatic cancer: prospective study comparing endoscopic ultrasonography, helical computed tomography, magnetic resonance imaging, and angiography. Am J Gastroenterol (2004) 1.81
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS One (2013) 1.77
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am J Med Genet A (2009) 1.76
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet (2008) 1.75
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Hum Mol Genet (2002) 1.75
Breast cancer survival in England, Norway and Sweden: a population-based comparison. Int J Cancer (2010) 1.74
A population-based comparison of the survival of patients with colorectal cancer in England, Norway and Sweden between 1996 and 2004. Gut (2011) 1.70
Combined endoscopic and percutaneous drainage of organized pancreatic necrosis. Gastrointest Endosc (2009) 1.68
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet (2005) 1.67
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial. BMJ (2008) 1.65
Development and evaluation of an efficient approach to volumetric arc therapy planning. Med Phys (2009) 1.65
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
Research resources: curating the new eagle-i discovery system. Database (Oxford) (2012) 1.64
Early auditory processing in area V5/MT+ of the congenitally blind brain. J Neurosci (2013) 1.58
Dysmorphology of Barth syndrome. Clin Dysmorphol (2009) 1.56
Pediatric dacryocystorhinostomy for nasolacrimal duct obstruction. Ophthalmology (2001) 1.54
An update on the genetics of usher syndrome. J Ophthalmol (2010) 1.54
Clinical decision making and research in hepatocellular carcinoma: pivotal role of imaging techniques. Hepatology (2011) 1.52
Outcome following surgery for contact lens-induced ptosis. Ophthal Plast Reconstr Surg (2011) 1.45
Liver tumor characterization: comparison between liver-specific gadoxetic acid disodium-enhanced MRI and biphasic CT--a multicenter trial. J Comput Assist Tomogr (2006) 1.43
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. Hum Genet (2002) 1.41
Endoscopic and percutaneous drainage of symptomatic walled-off pancreatic necrosis reduces hospital stay and radiographic resources. Clin Gastroenterol Hepatol (2010) 1.41
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2003) 1.40
A regional system for delivery of primary percutaneous coronary intervention in ST-elevation myocardial infarction: STEMI-St. Cloud. J Invasive Cardiol (2009) 1.40
Child disability services in Bangladesh. Dev Med Child Neurol (2013) 1.39
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med (2006) 1.39
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum. Am J Med Genet A (2013) 1.38
Non-invasive diagnosis of hepatocellular carcinoma ≤ 2 cm in cirrhosis. Diagnostic accuracy assessing fat, capsule and signal intensity at dynamic MRI. J Hepatol (2012) 1.37
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res (2004) 1.37
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab (2008) 1.34
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci (2009) 1.33
Barth syndrome. Orphanet J Rare Dis (2013) 1.33
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat (2010) 1.31
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet (2004) 1.31
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest Ophthalmol Vis Sci (2007) 1.31
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet (2009) 1.28
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A (2008) 1.27
Colorectal cancer survival in socioeconomic groups in England: variation is mainly in the short term after diagnosis. Eur J Cancer (2011) 1.27
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2011) 1.26
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
Direct ex vivo analysis of allergen-specific CD4+ T cells. J Allergy Clin Immunol (2010) 1.26
The effect of a monetary incentive on return of a postal health and development questionnaire: a randomised trial [ISRCTN53994660]. BMC Health Serv Res (2005) 1.24
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. Hum Mol Genet (2004) 1.24
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Mol Vis (2005) 1.23