Published in J Hum Genet on July 26, 2012
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med (2014) 2.41
Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2013) 2.24
The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014) 1.46
The role and challenges of exome sequencing in studies of human diseases. Front Genet (2013) 1.33
Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med (2015) 1.15
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A (2013) 1.13
The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. Proc Natl Acad Sci U S A (2014) 1.08
The impact of next-generation sequencing technologies on HLA research. J Hum Genet (2015) 1.05
Applications of high-throughput DNA sequencing to benign hematology. Blood (2013) 1.01
Genome-wide patterns of genetic variation in two domestic chickens. Genome Biol Evol (2013) 0.97
FLAGS, frequently mutated genes in public exomes. BMC Med Genomics (2014) 0.94
Exome Sequencing: Current and Future Perspectives. G3 (Bethesda) (2015) 0.91
EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group. Yearb Med Inform (2014) 0.89
Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. Genome Med (2015) 0.86
A new genotype of bovine leukemia virus in South America identified by NGS-based whole genome sequencing and molecular evolutionary genetic analysis. Retrovirology (2016) 0.85
SeqMule: automated pipeline for analysis of human exome/genome sequencing data. Sci Rep (2015) 0.82
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med (2013) 0.82
The road from next-generation sequencing to personalized medicine. Per Med (2015) 0.81
A quick guide to genomics and bioinformatics training for clinical and public audiences. PLoS Comput Biol (2014) 0.81
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Hum Reprod (2016) 0.80
Developments in our understanding of the genetic basis of birth defects. Birth Defects Res A Clin Mol Teratol (2015) 0.80
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. BMC Med Genomics (2016) 0.79
DNA sequencing methods in human genetics and disease research. F1000Prime Rep (2013) 0.79
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet (2016) 0.79
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. PLoS One (2016) 0.78
Lessons learned from gene identification studies in Mendelian epilepsy disorders. Eur J Hum Genet (2015) 0.78
Investigation of pathogenic genes in peri-implantitis from implant clustering failure patients: a whole-exome sequencing pilot study. PLoS One (2014) 0.77
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect. J Zhejiang Univ Sci B (2014) 0.77
New model systems to illuminate thyroid organogenesis. Part I: an update on the zebrafish toolbox. Eur Thyroid J (2013) 0.77
The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity. Comput Math Methods Med (2013) 0.77
An overview of mutation detection methods in genetic disorders. Iran J Pediatr (2013) 0.77
Utility of next generation sequencing in clinical primary immunodeficiencies. Curr Allergy Asthma Rep (2014) 0.76
Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci (2013) 0.76
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. Hum Mutat (2015) 0.75
Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. J Community Genet (2015) 0.75
Next generation sequencing: Coping with rare genetic diseases in China. Intractable Rare Dis Res (2016) 0.75
Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst. BMC Med Genet (2014) 0.75
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One (2017) 0.75
Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep (2017) 0.75
The necessity for in vivo functional analysis in human medical genetics. Med Res Arch (2015) 0.75
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. Hum Mutat (2017) 0.75
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med (2016) 0.75
A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrol (2015) 0.75
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. Sci Rep (2017) 0.75
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol (2017) 0.75
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies. J Biomed Sci (2017) 0.75
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PLoS One (2017) 0.75
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet (2017) 0.75
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype. PLoS One (2017) 0.75
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech (2017) 0.75
The amphioxus genome illuminates vertebrate origins and cephalochordate biology. Genome Res (2008) 3.04
The HLA genomic loci map: expression, interaction, diversity and disease. J Hum Genet (2009) 2.73
Regulation of the hepatitis C virus genome replication by miR-199a. J Hepatol (2008) 2.26
Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals. BMC Genomics (2008) 1.76
Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke (2004) 1.68
Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet (2004) 1.61
Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms. J Hum Genet (2010) 1.61
Gene expression profile for predicting survival in advanced-stage serous ovarian cancer across two independent datasets. PLoS One (2010) 1.58
High-risk ovarian cancer based on 126-gene expression signature is uniquely characterized by downregulation of antigen presentation pathway. Clin Cancer Res (2012) 1.56
Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. Circ Cardiovasc Genet (2013) 1.47
Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse. J Hum Genet (2009) 1.46
Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma. Hum Mutat (2008) 1.44
Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. Am J Hum Genet (2001) 1.43
Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. Genetics (2006) 1.37
Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility. PLoS Genet (2008) 1.28
Extended gene map reveals tripartite motif, C-type lectin, and Ig superfamily type genes within a subregion of the chicken MHC-B affecting infectious disease. J Immunol (2007) 1.27
Comparative genomic analysis of two avian (quail and chicken) MHC regions. J Immunol (2004) 1.24
Phase-defined complete sequencing of the HLA genes by next-generation sequencing. BMC Genomics (2013) 1.22
Regulation of Geminin and Cdt1 expression by E2F transcription factors. Oncogene (2004) 1.22
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet (2003) 1.15
A third broad lineage of major histocompatibility complex (MHC) class I in teleost fish; MHC class II linkage and processed genes. Immunogenetics (2007) 1.13
Gene expression profiling of advanced-stage serous ovarian cancers distinguishes novel subclasses and implicates ZEB2 in tumor progression and prognosis. Cancer Sci (2009) 1.12
GJB2 mutations: passage through Iran. Am J Med Genet A (2005) 1.09
Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. J Hum Genet (2002) 1.08
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proc Natl Acad Sci U S A (2011) 1.08
ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F1. Oncol Rep (2010) 1.06
A BAC-based contig map of the cynomolgus macaque (Macaca fascicularis) major histocompatibility complex genomic region. Genomics (2006) 1.06
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
Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2. J Hum Genet (2013) 1.04
Expression of MCM10 and TopBP1 is regulated by cell proliferation and UV irradiation via the E2F transcription factor. Oncogene (2004) 1.03
Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochem Biophys Res Commun (2008) 1.02
Molecular modeling of the dimeric structure of human lipoprotein lipase and functional studies of the carboxyl-terminal domain. Eur J Biochem (2002) 1.01
IFN-γ and TNF-α synergistically induce microRNA-155 which regulates TAB2/IP-10 expression in human mesangial cells. Am J Nephrol (2010) 1.01
Germline copy number variations in BRCA1-associated ovarian cancer patients. Genes Chromosomes Cancer (2010) 1.01
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res (2002) 1.00
Genomewide linkage analysis of familial prostate cancer in the Japanese population. J Hum Genet (2003) 1.00
The promyelotic leukemia zinc finger promotes osteoblastic differentiation of human mesenchymal stem cells as an upstream regulator of CBFA1. J Biol Chem (2004) 0.99
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. Hum Mol Genet (2004) 0.99
Genome-wide association database developed in the Japanese Integrated Database Project. J Hum Genet (2009) 0.99
COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. Spine (Phila Pa 1976) (2005) 0.98
Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study. Blood (2012) 0.98
Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population. J Hum Genet (2010) 0.98
Role of p38 mitogen-activated protein kinase on cerebral vasospasm after subarachnoid hemorrhage. Stroke (2004) 0.97
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. J Biol Chem (2007) 0.96
Expressed sequence tags from cynomolgus monkey (Macaca fascicularis) liver: a systematic identification of drug-metabolizing enzymes. FEBS Lett (2007) 0.95
Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population. PLoS One (2013) 0.94
Mutation analysis of the CYP21A2 gene in the Iranian population. Genet Test Mol Biomarkers (2011) 0.94
Nutritional and hormonal regulation of uncoupling protein 2. IUBMB Life (2009) 0.93
Tumour necrosis factor alpha-stimulated gene-6 inhibits osteoblastic differentiation of human mesenchymal stem cells induced by osteogenic differentiation medium and BMP-2. Biochem J (2006) 0.92
Sortilin is upregulated during osteoblastic differentiation of mesenchymal stem cells and promotes extracellular matrix mineralization. J Cell Physiol (2002) 0.92
Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population. Arch Oral Biol (2009) 0.91
The genetics of intracranial aneurysms. J Hum Genet (2006) 0.91
A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. Hum Mol Genet (2006) 0.91
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Hum Mutat (2009) 0.91
Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. J Hum Genet (2003) 0.90
MHC class I A loci polymorphism and diversity in three Southeast Asian populations of cynomolgus macaque. Immunogenetics (2009) 0.90
ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population. J Hum Genet (2006) 0.90
Improvement of pronuclear injection-based targeted transgenesis (PITT) by iCre mRNA-mediated site-specific recombination. Transgenic Res (2013) 0.90
Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution. Stroke (2010) 0.89
Association between polymorphism of the transforming growth factor-beta1 gene with the radiologic characteristic and ossification of the posterior longitudinal ligament. Spine (Phila Pa 1976) (2003) 0.89
Expression of retinoic acid-inducible gene-I in vascular smooth muscle cells stimulated with interferon-gamma. Life Sci (2004) 0.89
Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. Am J Orthod Dentofacial Orthop (2009) 0.89
Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. J Neurosurg (2005) 0.89
Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. Hum Genet (2007) 0.88
A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. PLoS One (2011) 0.87
TRIM39 and RNF39 are associated with Behçet's disease independently of HLA-B∗51 and -A∗26. Biochem Biophys Res Commun (2010) 0.86
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene. Iran J Pediatr (2011) 0.86
Genetics of Moyamoya disease. J Hum Genet (2010) 0.86
A frameshift variant of CYP2C8 was identified in a patient who suffered from rhabdomyolysis after administration of cerivastatin. J Hum Genet (2004) 0.86
Estrogen promotes Leydig cell engulfment by macrophages in male infertility. J Clin Invest (2014) 0.85
The small heat shock protein alphaB-crystallin inhibits differentiation-induced caspase 3 activation and myogenic differentiation. Biol Pharm Bull (2006) 0.85
Replication study and meta-analysis of human nonobstructive azoospermia in Japanese populations. Biol Reprod (2013) 0.85
Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis. Neurosurg Rev (2007) 0.84
Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. J Hum Genet (2011) 0.84
Conditional expression of MCM7 increases tumor growth without altering DNA replication activity. FEBS Lett (2003) 0.84
Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. Stroke (2003) 0.83
The destruction box of human Geminin is critical for proliferation and tumor growth in human colon cancer cells. Oncogene (2004) 0.83
Thymidine phosphorylase inhibits apoptosis induced by cisplatin. Biochem Biophys Res Commun (2003) 0.82
A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population. J Hum Genet (2013) 0.82
A Bead-based Normalization for Uniform Sequencing depth (BeNUS) protocol for multi-samples sequencing exemplified by HLA-B. BMC Genomics (2014) 0.82
Primordial linkage of β2-microglobulin to the MHC. J Immunol (2011) 0.82
Zebrafish Numb homologue: phylogenetic evolution and involvement in regulation of left-right asymmetry. Mech Dev (2006) 0.81
Characterization of six base pair deletion in the putative HNF1-binding site of human PXR promoter. J Hum Genet (2003) 0.81
Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort. Cerebrovasc Dis (2009) 0.81
BG1 has a major role in MHC-linked resistance to malignant lymphoma in the chicken. Proc Natl Acad Sci U S A (2009) 0.81
MHC class IIB gene sequences and expression in quails (Coturnix japonica) selected for high and low antibody responses. Immunogenetics (2004) 0.81
The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. Cerebrovasc Dis (2006) 0.81