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| Open AccessIdentification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
- Mario Torrado
- , Emilia Maneiro
- & Lorenzo Monserrat
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| Open AccessMicroRNA profiles in aqueous humor between pseudoexfoliation glaucoma and normal tension glaucoma patients in a Korean population
- Hyun-kyung Cho
- , Hyemin Seong
- & Sang Soo Kang
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| 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
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| 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
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| Open AccessExpanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
- Till Joscha Demal
- , Tasja Scholz
- & Georg Rosenberger
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| Open AccessBone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
- Ursula Pia Ferrara
- , Cristina Tortora
- & Daniela Melis
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| Open AccessUnusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India
- Amit Rawat
- , Rahul Tyagi
- & Surjit Singh
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| Open AccessA reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
- Chiara Locatelli
- , Sara Onnivello
- & Silvia Lanfranchi
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| Open AccessA machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
- Giovanna Nicora
- , Susanna Zucca
- & Paolo Magni
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| Open AccessCongenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study
- Hao-Han Chang
- , Yung-Shun Juan
- & Jian-Han Chen
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| Open AccessPrioritization of putatively detrimental variants in euploid miscarriages
- Silvia Buonaiuto
- , Immacolata Di Biase
- & Vincenza Colonna
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| Open AccessPerformance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
- João Albuquerque
- , Ana Margarida Medeiros
- & Marília Antunes
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| Open AccessPhenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
- Masatsugu Masuda
- , Ayako Kanno
- & Tatsuo Matsunaga
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| Open AccessIn-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
- Avi Fellner
- , Yael Goldberg
- & Felix Benninger
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| Open AccessSimple and rapid detection of common fetal aneuploidies using peptide nucleic acid probe-based real-time polymerase chain reaction
- Subeen Hong
- , Seung Mi Lee
- & Joong Shin Park
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| 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
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| Open AccessSOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
- Mariusz Berdyński
- , Przemysław Miszta
- & Magdalena Kuźma-Kozakiewicz
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| Open AccessThe minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis
- Xiaozheng Wu
- , Wen Li
- & Yunzhi Chen
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| Open AccessComprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
- Zuzana Pavlenkova
- , Lukas Varga
- & Daniela Gasperikova
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| 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
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| Open AccessCYP3A-status is associated with blood concentration and dose-requirement of tacrolimus in heart transplant recipients
- Máté Déri
- , Zsófia Szakál-Tóth
- & Katalin Monostory
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| Open AccessWhole-exome sequencing of the mummified remains of Cangrande della Scala (1291–1329 CE) indicates the first known case of late-onset Pompe disease
- Barbara Iadarola
- , Denise Lavezzari
- & Massimo Delledonne
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| 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
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| Open AccessAnalysis of parental abnormal chromosomal karyotype and subsequent live births in Chinese couples with recurrent pregnancy loss
- Shan Li
- , Mei Chen
- & Peng-Sheng Zheng
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| 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
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| Open AccessCommunication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
- Chiara L. Blomen
- , Aliaksandra Pott
- & Isabell Witzel
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| Open AccessGenetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database
- Guangzhao Qi
- , Jingmin Zhang
- & Pengfei Ma
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| Open AccessProfiles of microRNA in aqueous humor of normal tension glaucoma patients using RNA sequencing
- Hyemin Seong
- , Hyun-kyung Cho
- & Sang Soo Kang
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| 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
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| Open AccessCystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
- Chaozhe Yang
- , Naoe Harafuji
- & Lisa M. Guay-Woodford
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| Open AccessPhenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
- Lennart Well
- , Anna Careddu
- & Johannes Salamon
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| 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
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| Open AccessMutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
- Shumaila Sayyab
- , Anders Lundmark
- & Ann-Christine Syvänen
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| Open AccessA qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
- Marlies Saelaert
- , Heidi Mertes
- & Elfride De Baere
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| Open AccessThe genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene
- Minoo Bagheri
- , Chuan Wang
- & Jane F. Ferguson
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| Open AccessPrevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
- Yoon Young Choi
- , Su-Jin Shin
- & Olivier Harismendy
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| Open AccessDevelopment and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
- Cecília Silva
- , Nuno Maia
- & Paula Jorge
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| Open AccessYounger age of onset and uveitis associated with HLA-B27 and delayed diagnosis in Thai patients with axial spondyloarthritis
- Naphruet Limsakul
- , Praveena Chiowchanwisawakit
- & Yubolrat Thanaketpaisarn
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| 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
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| Open AccessA high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
- Yoshihito Kishita
- , Kaori Ishikawa
- & Yasushi Okazaki
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| Open AccessImproved methods for RNAseq-based alternative splicing analysis
- Rebecca F. Halperin
- , Apurva Hegde
- & Nicholas J. Schork
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| Open AccessTBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
- Dominika Oziębło
- , Marcin L. Leja
- & Monika Ołdak
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| Open AccessIntestinal mucosa-derived DNA methylation signatures in the penetrating intestinal mucosal lesions of Crohn’s disease
- Yuan Li
- , Zhiming Wang
- & Jianan Ren
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| 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
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| Open AccessAge and sex specific effects of APOE genotypes on ischemic heart disease and its risk factors in the UK Biobank
- Mengyu Li
- , Jie V. Zhao
- & C. Mary Schooling
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| Open AccessExploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
- Cecilie Ejerskov
- , Mette Gaustadnes
- & Annette Haagerup
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| Open AccessAssociation among extracellular superoxide dismutase genotype, plasma concentration, and comorbidity in the very old and centenarians
- Takashi Sasaki
- , Yukiko Abe
- & Yasumichi Arai
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| Open AccessThe impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)
- Atil Bisgin
- , Ozge Sonmezler
- & Mustafa Yilmaz
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| Open AccessSeptal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome
- Bong-Soo Kim
- , Hye-Rim Shin
- & Hyun-Mo Ryoo