Published in Am J Hum Genet on October 08, 2010
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One (2012) 2.33
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor. BMC Genomics (2011) 1.08
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet (2015) 0.89
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome. Mol Syndromol (2011) 0.85
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A (2014) 0.80
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet (2016) 0.79
Biological functions of fucose in mammals. Glycobiology (2017) 0.76
Canine models of human rare disorders. Rare Dis (2016) 0.75
Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples. Mol Cytogenet (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet (2001) 4.35
The mouse Gene Expression Database (GXD): 2007 update. Nucleic Acids Res (2006) 3.30
Execution of nonsense-mediated mRNA decay: what defines a substrate? Curr Opin Cell Biol (2009) 2.59
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat (2010) 1.76
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. Am J Med Genet (1992) 1.09
SREC-II, a new member of the scavenger receptor type F family, trans-interacts with SREC-I through its extracellular domain. J Biol Chem (2002) 1.01
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. J Biol Chem (2004) 0.97
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face. Am J Med Genet (1998) 0.89
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. Am J Med Genet A (2003) 0.89
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. Am J Med Genet A (2005) 0.88
A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation. J Med Genet (1995) 0.87
van den Ende-Gupta syndrome: evidence for genetic heterogeneity. Am J Med Genet A (2009) 0.87
Further delineation of the Van den Ende-Gupta syndrome. Am J Med Genet A (2010) 0.86
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. Am J Med Genet A (2007) 0.86
Global analysis of differentially expressed genes in oxidized LDL-treated human aortic smooth muscle cells. Biochem Biophys Res Commun (2003) 0.83
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. Clin Genet (1993) 0.83
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage. Am J Med Genet (1989) 0.79
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings. Am J Med Genet (1993) 0.78
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med (2003) 2.88
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science (2012) 2.66
What can exome sequencing do for you? J Med Genet (2011) 2.63
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat (2009) 2.34
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. Development (2003) 2.33
Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet (2013) 2.32
Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program (2003) 2.30
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol (2012) 2.17
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood (2007) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res (2008) 1.80
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat (2010) 1.76
Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics (2008) 1.76
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet (2010) 1.65
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (2012) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
A RaDiCAL approach to gene discovery. J Med Genet (2011) 1.58
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet (2004) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Characterization of intron loss events in mammals. Genome Res (2006) 1.56
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Acta Neuropathol (2013) 1.54
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. Bone (2013) 1.52
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A (2002) 1.51
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. Am J Clin Nutr (2004) 1.50
Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med (2008) 1.46
Effects of catheter ablation of idiopathic ventricular ectopic beats on left ventricular function and exercise capacity. Kardiol Pol (2009) 1.45
TMPRSS2-ERG status is not prognostic following prostate cancer radiotherapy: implications for fusion status and DSB repair. Clin Cancer Res (2013) 1.45
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet (2013) 1.44
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci (2005) 1.44
Surgical ablation for atrial fibrillation using the Ex-Maze III procedure on the beating heart in patients undergoing mitral valve surgery. Kardiol Pol (2011) 1.44
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Factors predisposing to ventricular tachyarrhythmia leading to appropriate ICD intervention in patients with coronary artery disease or non-ischaemic dilated cardiomyopathy. Kardiol Pol (2012) 1.42
Effect of selected prothrombotic and proinflammatory factors on the incidence of venous thrombosis after pacemaker implantation. Kardiol Pol (2012) 1.42
Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet (2011) 1.41
Association between selected risk factors and the incidence of venous obstruction after pacemaker implantation: demographic and clinical factors. Kardiol Pol (2011) 1.41
Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. Mol Genet Metab (2009) 1.40
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet (2004) 1.40
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Predictors of sinus rhythm return during defibrillation testing in patients with permanent atrial fibrillation undergoing implantation of a cardioverter-defibrillator. Kardiol Pol (2011) 1.38
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat (2006) 1.35
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet (2002) 1.34
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
Intron loss and gain in Drosophila. Mol Biol Evol (2007) 1.33
Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet (2009) 1.32
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Evidence for codon bias selection at the pre-mRNA level in eukaryotes. Trends Genet (2004) 1.28
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol (2009) 1.23
Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet (2012) 1.23
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet (2013) 1.21
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20
The Sam68 STAR RNA-binding protein regulates mTOR alternative splicing during adipogenesis. Mol Cell (2012) 1.19
RNA editing of protein sequences: a rare event in human transcriptomes. RNA (2012) 1.18
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics (2013) 1.16
Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1. PLoS Genet (2012) 1.15
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet (2002) 1.14
Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Brain (2004) 1.13
No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol (2014) 1.12
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab (2006) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab (2010) 1.08
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr (2009) 1.07
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet (2015) 1.06
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis (2012) 1.05
Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects. Physiol Genomics (2005) 1.05
Heart perforation in patients with permanent cardiac pacing - pilot personal observations. Arch Med Sci (2012) 1.05
Complex percutaneous extraction of a 15-year-old atrial lead dislodged into the subclavian vein. Arch Med Sci (2011) 1.04
Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med (2011) 1.04
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet (2002) 1.02