Featured
-
-
Article
| Open AccessThe prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- Kizuki Watanabe
- , Shin-ya Nishio
- & Shunsuke Kondo
-
Article
| Open AccessClinically accessible amplitude-based multiplex ddPCR assay for tryptase genotyping
- Manca Svetina
- , Julij Šelb
- & Matija Rijavec
-
Article
| Open AccessAllelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
- Dong Woo Nam
- , Yong Keun Song
- & Sang-Yeon Lee
-
Article
| Open AccessMechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma
- Wendy W. Liu
- , Tyler G. Kinzy
- & Donald J. Zack
-
Article
| Open AccessWhole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
- Sára Pálla
- , Judit Tőke
- & Attila Patócs
-
Article
| Open AccessExome-wide association study of treatment-resistant depression suggests novel treatment targets
- Shrey B. Shah
- , Teja N. Peddada
- & Francis J. McMahon
-
Article
| Open AccessHigh throughput human genotyping for variants associated with malarial disease outcomes using custom targeted amplicon sequencing
- Ashley Osborne
- , Jody E. Phelan
- & Taane G. Clark
-
Article
| Open AccessIdentification of hub genes and potential ceRNA networks of diabetic cardiomyopathy
- Jun Hou
- , Wan Yi Liang
- & Haoyu Deng
-
Article
| Open AccessA genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
- Gary Leggatt
- , Guo Cheng
- & Sarah Ennis
-
Article
| Open AccessRare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom
- Julia Zöllner
- , Sarah Finer
- & Peter H. Dixon
-
Article
| Open AccessClinical implications of somatic allele expansion in female FMR1 premutation carriers
- Ramkumar Aishworiya
- , Ye Hyun Hwang
- & Flora Tassone
-
Article
| Open AccessCorrelation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis
- Naoki Oishi
- , Masaru Noguchi
- & Tatsuo Matsunaga
-
Article
| Open AccessA common variant rs2054564 in ADAMTS17 is associated with susceptibility to lumbar spondylosis
- Yuki Taniguchi
- , Toru Akune
- & Noriko Yoshimura
-
Matters Arising
| Open AccessGenome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates
- Emil Uffelmann
- , Danielle Posthuma
- & Wouter J. Peyrot
-
Article
| Open AccessAssociation of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis
- David J. Margolis
- , Nandita Mitra
- & Elizabeth J. Phillips
-
Article
| Open AccessMicrodeletions and microduplications linked to severe congenital disorders in infertile men
- Triin Kikas
- , Anna Maria Punab
- & Maris Laan
-
Article
| Open AccessGenetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
- Marianthi Karali
- , Francesco Testa
- & Sandro Banfi
-
Article
| Open AccessGenetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma
- Fumihiko Mabuchi
- , Nakako Mabuchi
- & Makoto Araie
-
Article
| Open AccessFive years’ experience of the clinical exome sequencing in a Spanish single center
- A. Arteche-López
- , A. Ávila-Fernández
- & C. Ayuso
-
Article
| Open AccessGenetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery
- Hairui Sun
- , Lu Han
- & Yihua He
-
Article
| Open AccessWhole-exome analysis of 177 pediatric patients with undiagnosed diseases
- Kotaro Narita
- , Hideki Muramatsu
- & Yoshiyuki Takahashi
-
Article
| Open AccessDynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function
- Raju Dash
- , Yeasmin Akter Munni
- & Il Soo Moon
-
Article
| Open AccessAnalysis of circRNAs and circRNA-associated competing endogenous RNA networks in β-thalassemia
- Fang Yang
- , Heyun Ruan
- & Ketong Lai
-
Article
| Open AccessIdentification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
- Mario Torrado
- , Emilia Maneiro
- & Lorenzo Monserrat
-
Article
| Open AccessNeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system
- Kyle W. Davis
- , Colleen G. Bilancia
- & Moises A. Serrano
-
Article
| Open AccessNovel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
- Eva-Lena Stattin
- , Karin Lindblom
- & Anders Aspberg
-
Article
| Open AccessExpanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
- Till Joscha Demal
- , Tasja Scholz
- & Georg Rosenberger
-
Article
| Open AccessPerformance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
- João Albuquerque
- , Ana Margarida Medeiros
- & Marília Antunes
-
Article
| Open AccessPhenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
- Masatsugu Masuda
- , Ayako Kanno
- & Tatsuo Matsunaga
-
Article
| Open AccessIn-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
- Avi Fellner
- , Yael Goldberg
- & Felix Benninger
-
Article
| Open AccessCorrelation between gene expression and MRI STIR signals in patients with chronic low back pain and Modic changes indicates immune involvement
- Maria Dehli Vigeland
- , Siri Tennebø Flåm
- & Vidar Rao
-
Article
| Open AccessAccurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis
- Keita Shingu
- , Takehiko Murase
- & Kazuya Ikematsu
-
Article
| Open AccessComparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
- Charlie Rowlands
- , Huw B. Thomas
- & Jamie M. Ellingford
-
Article
| Open AccessAn observational study investigating the CRY1Δ11 variant associated with delayed sleep–wake patterns and circadian metabolic output
- Sandra P. Smieszek
- , Jennifer L. Brzezynski
- & Mihael H. Polymeropoulos
-
Article
| Open AccessProfiles of microRNA in aqueous humor of normal tension glaucoma patients using RNA sequencing
- Hyemin Seong
- , Hyun-kyung Cho
- & Sang Soo Kang
-
Article
| Open AccessCollagen-derived dipeptide Pro-Hyp administration accelerates muscle regenerative healing accompanied by less scarring after wounding on the abdominal wall in mice
- Shiro Jimi
- , Seiko Koizumi
- & Arman Saparov
-
Article
| Open AccessCystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
- Chaozhe Yang
- , Naoe Harafuji
- & Lisa M. Guay-Woodford
-
Article
| Open AccessIdentification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
- Hessa Al-Kandari
- , Dalia Al-Abdulrazzaq
- & Fahd Al-Mulla
-
Article
| Open AccessThe genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene
- Minoo Bagheri
- , Chuan Wang
- & Jane F. Ferguson
-
Article
| Open AccessMiR-124 and miR-506 are involved in the decline of protein C in children with extra-hepatic portal vein obstruction
- Jin-Shan Zhang
- & Long Li
-
Article
| Open AccessTBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
- Dominika Oziębło
- , Marcin L. Leja
- & Monika Ołdak
-
Article
| Open AccessA web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study
- Keito Yoshimura
- , Yuji Morita
- & Masami Tanaka
-
Article
| Open AccessSeptal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome
- Bong-Soo Kim
- , Hye-Rim Shin
- & Hyun-Mo Ryoo
-
Article
| Open AccessThe orthopedic characterization of cfap298tm304 mutants validate zebrafish to faithfully model human AIS
- Laura Marie-Hardy
- , Yasmine Cantaut-Belarif
- & Hugues Pascal-Moussellard
-
Article
| Open AccessANGPTL3 gene variants in subjects with familial combined hyperlipidemia
- A. M. Bea
- , E. Franco-Marín
- & I. Lamiquiz-Moneo
-
Article
| Open AccessExpression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities
- Aliaa M. Higazi
- , Hanan M. Kamel
- & Ashraf M. Osman
-
Article
| Open AccessMolecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders
- Joseph J. Rossi
- , Jill A. Rosenfeld
- & David C. Bersten
-
Article
| Open AccessGlobal network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease
- Christopher J. Minnis
- , StJohn Townsend
- & Sara E. Mole
-
Article
| Open AccessThe TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease
- Megan C. Bakeberg
- , Madison E. Hoes
- & Ryan S. Anderton