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| Open AccessContrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms
- Madeline H. Garvey
- , Tiffany Nash
- & Karen F. Berman
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| Open AccessANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder
- Matthias Przyklenk
- , Shreya Karmacharya
- & Alvise Schiavinato
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| Open AccessIron status and sarcopenia-related traits: a bi-directional Mendelian randomization study
- Honggu Chen
- , Ziyi Zhang
- & Guoyang Zhao
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| Open AccessThe prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- Kizuki Watanabe
- , Shin-ya Nishio
- & Shunsuke Kondo
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| Open AccessClinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation
- Dan-dan Ruan
- , Xing-lin Ruan
- & Yun-fei Li
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| Open AccessVitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
- Sabrina Ehnert
- , Stefan Hauser
- & Tim W. Rattay
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| Open AccessAneuploidy is frequent in heterozygous diploid and triploid hydatidiform moles
- P. Walbum
- , L. Andreasen
- & L. Sunde
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| Open AccessHypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
- Willem Bosman
- , Gijs A. C. Franken
- & Joost G. J. Hoenderop
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| Open AccessThe E3 ligase TRIM7 suppresses the tumorigenesis of gastric cancer by targeting SLC7A11
- Qishuai Chen
- , Tongtong Zhang
- & Guangyong Zhang
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| Open AccessLoss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
- Abdulfatah M. Alayoubi
- , Muhammad Iqbal
- & Sulman Basit
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| Open AccessCausal relationship between telomere length and sepsis: a bidirectional Mendelian randomization study
- Jiamin Xu
- , Gehua Zhu
- & Hongyan Zhang
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| Open AccessType 2 diabetes and inflammatory bowel disease: a bidirectional two-sample Mendelian randomization study
- Guangyi Xu
- , Yanhong Xu
- & Ting Liu
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| Open AccessAnalysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
- Daniel Moynihan
- , Sean Monaco
- & Saumya Shekhar Jamuar
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| Open AccessInvestigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
- Peiliang Lei
- , Qingwen Zhu
- & Wenrong Dong
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| Open AccessThe genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
- Shaza Alkhidir
- , Karen El-Akouri
- & Mashael Al-Shafai
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| Open AccessGlobal carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases
- Won-Jun Choi
- , Soo-Hyun Kim
- & Hyung Jun Park
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| Open AccessA cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
- Tiago Fernando Chaves
- , Maristela Ocampos
- & Angelica Francesca Maris
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| Open AccessIdentification and verification of a prognostic autophagy-related gene signature in hepatocellular carcinoma
- Zhen Ma
- , Mali Chen
- & Hongbin Cui
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| Open AccessRefined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases
- Xiao Yuan
- , Jieqiong Su
- & Qiang Gong
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| Open AccessClinically accessible amplitude-based multiplex ddPCR assay for tryptase genotyping
- Manca Svetina
- , Julij Šelb
- & Matija Rijavec
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| Open AccessProsaposin variants in sporadic, familial, and early-onset Parkinson's disease: a Taiwanese case–control study and meta-analysis
- Ming-Che Kuo
- , Yung-Tsai Chu
- & Ruey-Meei Wu
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| Open AccessExploratory study of cold hypersensitivity in Japanese women: genetic associations and somatic symptom burden
- Xuefeng Wu
- , Tetsuhiro Yoshino
- & Masaru Mimura
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| Open AccessCausal association between kynurenine and depression investigated using two-sample mendelian randomization
- Luxin Zong
- , Maohong Ge
- & Chenghui Wang
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| Open AccessHomozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant
- Roberto Ricciardiello
- , Giulia Forleo
- & Simone Sabbioneda
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| Open AccessUnfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
- Ayumi Matsumoto
- , Shintaro Kano
- & Sadahiko Iwamoto
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| Open AccessCombining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
- Jaewon Kim
- , Jaewoong Lee
- & Dae-Hyun Jang
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| Open AccessIntegrated omics analysis of coronary artery calcifications and myocardial infarction: the Framingham Heart Study
- Amalie Lykkemark Møller
- , Ramachandran S. Vasan
- & Honghuang Lin
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| Open AccessMutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
- Shaoli Sarker
- , Tamannyat Binte Eshaque
- & Mohammed Uddin
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| Open AccessUrinary exosomal miRNA signature of IgA nephropathy: a case–control study
- Mythri Shankar
- , Aditya Shetty
- & Karthik Tennankore
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| Open AccessAnalysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome
- Lisa Matesevac
- , Caroline J. Vrana-Diaz
- & Theresa V. Strong
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| Open AccessPlatform for the interdisciplinary study of cardiovascular, metabolic and neurovascular diseases (PICMAN) protocol
- Mayank Dalakoti
- , Melvin Khee Shing Leow
- & Roger Foo
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| Open AccessAllelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
- Dong Woo Nam
- , Yong Keun Song
- & Sang-Yeon Lee
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| Open AccessExpression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia
- Tanja Hirch
- , Nadine Brander
- & Ute Modlich
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| Open AccessNaturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever
- Danika L. Bannasch
- , Danielle T. Oertle
- & Nikhil Joshi
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| Open AccessSHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
- Daniel Backenroth
- , Gheona Altarescu
- & David A. Zeevi
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| Open AccessFUT1 variants responsible for Bombay or para-Bombay phenotypes in a database
- Mikiko Soejima
- & Yoshiro Koda
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| Open AccessMechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma
- Wendy W. Liu
- , Tyler G. Kinzy
- & Donald J. Zack
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| Open AccessTelomere length and hTERT genetic variants as potential prognostic markers in multiple myeloma
- Marta Dratwa
- , Piotr Łacina
- & Katarzyna Bogunia-Kubik
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| Open AccessWhole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
- Sára Pálla
- , Judit Tőke
- & Attila Patócs
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| Open AccessChallenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre
- Henriett Butz
- , Anikó Bozsik
- & Attila Patócs
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| Open AccessValidation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fya antigens
- Brian Alford
- , Brian P. Landry
- & Kathryn J. Gray
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| Open AccessExome-wide association study of treatment-resistant depression suggests novel treatment targets
- Shrey B. Shah
- , Teja N. Peddada
- & Francis J. McMahon
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| Open AccessDosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration
- Anne Skakkebæk
- , Kasper Kjær-Sørensen
- & Claus Højbjerg Gravholt
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| 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
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| Open AccessCharacterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy
- Hiroko Ueda
- , Quynh Thuy Huong Tran
- & Hiroyasu Tsukaguchi
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| Open AccessIdentification of hub genes and potential ceRNA networks of diabetic cardiomyopathy
- Jun Hou
- , Wan Yi Liang
- & Haoyu Deng
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| Open AccessRevisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
- Wittaya Jomoui
- , Sitthichai Panyasai
- & Wanicha Tepakhan
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| Open AccessA missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
- Rie Seyama
- , Masashi Nishikawa
- & Naomichi Matsumoto
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| Open AccessOptimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
- Céline Bonnet
- , David Pellerin
- & Mathilde Renaud