Disease gene identification strategies for exome sequencing.

A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60

The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med (2014) 2.08

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. PLoS Genet (2015) 1.55

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet (2012) 1.50

Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics (2014) 1.38

Digenic inheritance in medical genetics. J Med Genet (2013) 1.38

The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci U S A (2015) 1.37

The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet (2013) 1.27

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med (2012) 1.18

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun (2014) 1.18

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res (2015) 1.18

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16

The human gene connectome as a map of short cuts for morbid allele discovery. Proc Natl Acad Sci U S A (2013) 1.10

Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol (2012) 1.08

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification. Genet Med (2015) 1.07

High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol (2012) 1.07

Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc (2015) 1.07

SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins. PLoS One (2013) 1.06

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain (2015) 1.06

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Hum Mutat (2013) 1.04

Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis (2015) 1.04

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol (2016) 1.03

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet (2013) 1.00

Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis. Front Immunol (2015) 0.98

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet (2015) 0.97

Genome-wide patterns of genetic variation in two domestic chickens. Genome Biol Evol (2013) 0.97

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. Biomed Res Int (2015) 0.93

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC Genomics (2013) 0.93

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance. BMC Genomics (2014) 0.91

DIDA: A curated and annotated digenic diseases database. Nucleic Acids Res (2015) 0.90

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J (2012) 0.90

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. Genome Med (2015) 0.88

New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88

Novel bioinformatic developments for exome sequencing. Hum Genet (2016) 0.86

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives. Bioinformatics (2014) 0.86

Guanine holes are prominent targets for mutation in cancer and inherited disease. PLoS Genet (2013) 0.86

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. Genome Med (2015) 0.86

Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet (2014) 0.86

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. Mol Genet Genomic Med (2013) 0.85

An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet (2014) 0.85

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet (2016) 0.85

High-throughput sequencing and rare genetic diseases. Mol Syndromol (2012) 0.85

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam Cancer (2016) 0.84

Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment. PLoS One (2014) 0.84

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. Biomed Res Int (2012) 0.84

STAG3 truncating variant as the cause of primary ovarian insufficiency. Eur J Hum Genet (2015) 0.83

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease. BMC Genomics (2014) 0.82

Large interrelated clusters of repetitive elements (REs) and RE arrays predominantly represent reference mouse chromosome Y. Chromosome Res (2013) 0.82

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. Biomed Res Int (2014) 0.82

Delivery of a clinical genomics service. Genes (Basel) (2014) 0.81

The road from next-generation sequencing to personalized medicine. Per Med (2015) 0.81

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet (2013) 0.80

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. BMC Cardiovasc Disord (2014) 0.80

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder. EMBO Mol Med (2014) 0.80

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications. Int J Pediatr (2013) 0.79

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet (2015) 0.79

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study. Eur J Hum Genet (2017) 0.79

Lessons learned from gene identification studies in Mendelian epilepsy disorders. Eur J Hum Genet (2015) 0.78

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. Mol Vis (2014) 0.78

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med (2015) 0.78

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet (2016) 0.78

Genetics of Hearing Loss: Syndromic. Otolaryngol Clin North Am (2015) 0.77

Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis. PLoS One (2015) 0.77

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. PLoS One (2014) 0.77

The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery. Cell Oncol (Dordr) (2016) 0.77

Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms. Nucleic Acids Res (2016) 0.77

Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology. Curr Psychiatry Rev (2014) 0.77

Association between human prothrombin variant (T165M) and kidney stone disease. PLoS One (2012) 0.77

Exome sequencing in a breast cancer family without BRCA mutation. Radiat Oncol J (2015) 0.77

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res (2016) 0.76

The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm Genome (2015) 0.76

Utility of next generation sequencing in clinical primary immunodeficiencies. Curr Allergy Asthma Rep (2014) 0.76

Regulating whole exome sequencing as a diagnostic test. Hum Genet (2016) 0.76

Germline mutations of inhibins in early-onset ovarian epithelial tumors. Hum Mutat (2013) 0.76

Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study. PLoS One (2014) 0.76

Characterization and identification of hidden rare variants in the human genome. BMC Genomics (2015) 0.76

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies. Acta Med Litu (2016) 0.75

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. Mol Syndromol (2016) 0.75

Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study. Sex Dev (2016) 0.75

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome. Mol Cytogenet (2016) 0.75

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLoS One (2017) 0.75

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa. Sci Rep (2016) 0.75

The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. Sci Rep (2016) 0.75

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acids Res (2017) 0.75

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease. PLoS One (2015) 0.75

TrioVis: a visualization approach for filtering genomic variants of parent-child trios. Bioinformatics (2013) 0.75

Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy. Neth Heart J (2015) 0.75

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. BMC Genomics (2015) 0.75

Whole exome sequencing in recurrent early pregnancy loss. Mol Hum Reprod (2016) 0.75

Nanopore-Based Target Sequence Detection. PLoS One (2016) 0.75

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. Exp Mol Med (2016) 0.75

A Novel Sample Selection Strategy for Imbalanced Data of Biomedical Event Extraction with Joint Scoring Mechanism. Comput Math Methods Med (2016) 0.75

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. Am J Hum Genet (2016) 0.75

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. Eur J Hum Genet (2016) 0.75

Next-Generation Sequencing: The Translational Medicine Approach from "Bench to Bedside to Population". Medicines (Basel) (2016) 0.75

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. Am J Hum Genet (2017) 0.75

Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review. JAMA Neurol (2016) 0.75

Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family. Medicine (Baltimore) (2017) 0.75

A map of human genome variation from population-scale sequencing. Nature (2010) 121.13

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26

Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96

Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61

Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49

Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45

MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods (2010) 16.61

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (2003) 13.60

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57

Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12

Genetic heterogeneity in human disease. Cell (2010) 10.67

Clinical assessment incorporating a personal genome. Lancet (2010) 10.18

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med (2011) 9.03

Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78

A de novo paradigm for mental retardation. Nat Genet (2010) 8.57

Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87

Gene prioritization through genomic data fusion. Nat Biotechnol (2006) 7.48

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res (2009) 7.34

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. Am J Hum Genet (2006) 6.10

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

A decade's perspective on DNA sequencing technology. Nature (2011) 5.61

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95

Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet (2011) 4.67

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51

Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29

Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01

Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat (2011) 4.01

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain (2010) 3.66

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet (2011) 3.16

Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96

SUSPECTS: enabling fast and effective prioritization of positional candidates. Bioinformatics (2006) 2.96

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69

What can exome sequencing do for you? J Med Genet (2011) 2.63

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38

Mendelian disorders deserve more attention. Nat Rev Genet (2006) 2.36

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet (2011) 2.23

Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet (2011) 1.91

Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet (2011) 1.89

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85

Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet (2011) 1.80

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A (2011) 1.71

A guide to web tools to prioritize candidate genes. Brief Bioinform (2010) 1.70

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet (2011) 1.58

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet (2011) 1.51

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet (2011) 1.16

Linking genes to diseases: it's all in the data. Genome Med (2009) 1.14

Rethinking the genetic architecture of schizophrenia. Psychol Med (2010) 1.13

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet (2011) 1.10

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res (2011) 1.05

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80

Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60

A de novo paradigm for mental retardation. Nat Genet (2010) 8.57

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43

A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81

Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60

Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69

Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62

Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61

Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases. Am J Surg Pathol (2007) 2.48

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44

A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet (2003) 2.32

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31

Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30

TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28

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 LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09

Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98

Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Res (2006) 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

WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav (2014) 1.90

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90

Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res (2002) 1.84

Phenome connections. Trends Genet (2008) 1.84

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83

Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet (2003) 1.83

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80

Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76

Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat (2009) 1.71

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70

De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69

Splitting p63. Am J Hum Genet (2002) 1.62

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A (2007) 1.62