Published in J Comput Biol on January 01, 1997
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
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Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One (2014) 1.44
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A (2004) 1.42
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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet (2010) 1.33
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet (2013) 1.32
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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget (2011) 1.31
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab (2007) 1.31
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry (2015) 1.28
The HMG-domain protein BAP111 is important for the function of the BRM chromatin-remodeling complex in vivo. Proc Natl Acad Sci U S A (2001) 1.27
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet (2008) 1.27
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet (2013) 1.26
Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. Nucleic Acids Res (2007) 1.25
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Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes (2013) 1.22
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci (2004) 1.19
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. Circ Arrhythm Electrophysiol (2008) 1.19
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Genes Chromosomes Cancer (2013) 1.18
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Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family. Mol Vis (2009) 1.17
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Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A (2010) 1.16
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet (2012) 1.15
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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet (2009) 1.13
Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk. Cancer Epidemiol Biomarkers Prev (2009) 1.13
Distributions of transposable elements reveal hazardous zones in mammalian introns. PLoS Comput Biol (2011) 1.12
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet (2010) 1.11
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat (2009) 1.11
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.09
Position-dependent motif characterization using non-negative matrix factorization. Bioinformatics (2008) 1.09
In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res (2014) 1.08
TrueSight: a new algorithm for splice junction detection using RNA-seq. Nucleic Acids Res (2012) 1.08
A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am J Hum Genet (2009) 1.08
VaRank: a simple and powerful tool for ranking genetic variants. PeerJ (2015) 1.08
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis (2010) 1.08
VSX1 gene analysis in keratoconus. Mol Vis (2010) 1.07
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry (2011) 1.07
Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol (2008) 1.05
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Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res (2005) 1.03
Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol (2012) 1.03
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol (2010) 1.03
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet (2008) 1.02
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis (2013) 1.02
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