Published in Bioinformatics on July 12, 2005
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet (2010) 3.74
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med (2012) 2.70
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet (2010) 2.50
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
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
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07
The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis (2008) 2.04
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol (2015) 1.84
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet (2013) 1.61
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
Novel genetic findings in an extended family pedigree with sleepwalking. Neurology (2011) 1.56
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet (2008) 1.43
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J (2013) 1.40
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet (2010) 1.32
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet (2009) 1.27
Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet (2015) 1.24
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet (2008) 1.21
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet (2009) 1.16
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet (2011) 1.12
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet (2015) 1.12
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat (2008) 1.11
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33. Hum Genet (2010) 1.04
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology (2010) 1.02
Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q. Spine (Phila Pa 1976) (2009) 1.01
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS One (2014) 0.99
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis (2009) 0.98
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol (2011) 0.96
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis (2012) 0.94
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med (2016) 0.94
SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics (2009) 0.94
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet (2014) 0.93
KinSNP software for homozygosity mapping of disease genes using SNP microarrays. Hum Genomics (2010) 0.92
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet (2008) 0.91
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet (2012) 0.90
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet (2008) 0.90
Identification of a KEAP1 germline mutation in a family with multinodular goitre. PLoS One (2013) 0.89
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int (2013) 0.89
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol (2010) 0.88
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood (2011) 0.88
A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees. Bioinformatics (2012) 0.87
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis (2011) 0.86
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. Mol Vis (2010) 0.86
Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q. Hum Genet (2011) 0.85
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res (2009) 0.84
Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Mol Vis (2010) 0.84
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Eur J Hum Genet (2009) 0.84
Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer. J Med Genet (2010) 0.83
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Neurogenetics (2009) 0.83
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet (2013) 0.81
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract. Mol Vis (2013) 0.81
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. Eur J Hum Genet (2009) 0.80
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. Eur J Hum Genet (2012) 0.79
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. Hum Genet (2016) 0.79
Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases. PLoS One (2015) 0.78
Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population. BMC Genet (2016) 0.77
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Med Genet (2010) 0.77
A null mutation in TNIK defines a novel locus for intellectual disability. Hum Genet (2016) 0.76
Pitfall of identifying a disease locus by using low-resolution SNP arrays. J Mol Genet Med (2011) 0.75
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. Eur J Hum Genet (2012) 0.75
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genet (2017) 0.75
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc Natl Acad Sci U S A (2017) 0.75
Evaluation of the BACTEC radiometric method for recovery of mycobacteria and drug susceptibility testing of Mycobacterium tuberculosis from acid-fast smear-positive specimens. J Clin Microbiol (1983) 10.49
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet (2000) 8.33
Molecular genetics of MODY in Germany. Diabetologia (1999) 1.44
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabet Med (1999) 0.91
A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia (2007) 0.89
Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes (1998) 0.79
[Interstitial nephritis]. Internist (Berl) (2009) 0.78
Hydronephrosis Resulting from Bilateral Ureteral Stenosis: A Late Complication of Polyoma BK Virus Cystitis? J Transplant (2010) 0.75