Published in Invest Ophthalmol Vis Sci on January 21, 2011
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet (2012) 1.10
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet (2016) 1.02
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet (2014) 0.84
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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PLoS One (2015) 0.79
Lgr4 in ocular development and glaucoma. J Ophthalmol (2013) 0.79
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. Orphanet J Rare Dis (2014) 0.78
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. J Zhejiang Univ Sci B (2014) 0.78
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. Eur J Hum Genet (2017) 0.76
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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol (2007) 16.15
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR. Anal Biochem (2002) 4.54
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet (2010) 3.83
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol (2008) 2.90
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med (2015) 2.68
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep (2012) 2.67
Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest (2005) 2.61
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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol (2009) 2.32
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood (2003) 2.13
RTPrimerDB: the real-time PCR primer and probe database, major update 2006. Nucleic Acids Res (2006) 2.11
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53. J Natl Cancer Inst (2009) 2.09
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Arch Ophthalmol (2011) 2.02
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken) (2012) 2.01
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr (2013) 1.99
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
Diagnostic accuracy of microbial keratitis with in vivo scanning laser confocal microscopy. Br J Ophthalmol (2010) 1.96
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res (2009) 1.94
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med (2010) 1.94
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat (2010) 1.89
Integrity of the inferior longitudinal fasciculus and impaired object recognition in children: a diffusion tensor imaging study. Dev Med Child Neurol (2012) 1.85
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma. J Clin Oncol (2005) 1.82
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
Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res (2010) 1.79
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm (2009) 1.78
Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol (2008) 1.77
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay. Mod Pathol (2002) 1.73
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet (2002) 1.72
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays. BMC Bioinformatics (2005) 1.71
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res (2005) 1.70
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. Heart Rhythm (2006) 1.69
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.63
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 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
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. Am J Physiol Heart Circ Physiol (2008) 1.60
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Disabil Rehabil (2010) 1.59
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet (2009) 1.58