Featured
-
-
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 AccessThe causal mutation in ARR3 gene for high myopia and progressive color vision defect
- Lei Gu
- , Peikuan Cong
- & Hongguang Cui
-
Article
| Open AccessFeatures of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples
- Laura Melado
- , Barbara Lawrenz
- & Human Fatemi
-
Article
| Open AccessRNA-Seq–based transcriptome analysis of corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy
- Tatsuya Nakagawa
- , Yuichi Tokuda
- & Naoki Okumura
-
Article
| Open AccessValidation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
- Nanna Bæk Møller
- , Desirée Sofie Boonen
- & Thorkild Terkelsen
-
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 AccessPrevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma
- Jacopo Azzollini
- , Luca Agnelli
- & Siranoush Manoukian
-
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
-
Article
| Open AccessA genome-wide association study identifies a possible role for cannabinoid signalling in the pathogenesis of diabetic kidney disease
- Wael Osman
- , Mira Mousa
- & Habiba Al Safar
-
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 AccessSystematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
- Peggy Reuter
- , Magdalena Walter
- & Nicole Weisschuh
-
Article
| Open AccessAssociation of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis
- David J. Margolis
- , Nandita Mitra
- & Elizabeth J. Phillips
-
Article
| Open AccessUtilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
- Sarinya Summa
- , Chupong Ittiwut
- & Vorasuk Shotelersuk
-
Article
| Open AccessPharmacokinetics and bioequivalence evaluation of omeprazole and sodium bicarbonate dry suspensions in healthy Chinese volunteers
- Rui Zhang
- , Pengpeng Guo
- & Shaojun Shi
-
Article
| Open AccessA novel NONO variant that causes developmental delay and cardiac phenotypes
- Toshiyuki Itai
- , Atsushi Sugie
- & Naomichi Matsumoto
-
Article
| Open AccessAllele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort
- Daan van Beek
- , Job Verdonschot
- & Michiel Adriaens
-
Article
| Open AccessMicrodeletions and microduplications linked to severe congenital disorders in infertile men
- Triin Kikas
- , Anna Maria Punab
- & Maris Laan
-
Article
| Open AccessSibling variation in polygenic traits and DNA recombination mapping with UK Biobank and IVF family data
- Louis Lello
- , Maximus Hsu
- & Timothy G. Raben
-
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 AccessArtificial intelligence workflow quantifying muscle features on Hematoxylin–Eosin stained sections reveals dystrophic phenotype amelioration upon treatment
- Marie Reinbigler
- , Jérémie Cosette
- & Daniel Stockholm
-
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 AccessThe diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
- Ghalia Al-Kasbi
- , Fathiya Al-Murshedi
- & Almundher Al-Maawali
-
Article
| Open AccessSARS-CoV-2 quasi-species analysis from patients with persistent nasopharyngeal shedding
- Pierre Dudouet
- , Philippe Colson
- & Didier Raoult
-
Article
| Open AccessIncreased autophagy leads to decreased apoptosis during β-thalassaemic mouse and patient erythropoiesis
- Pornthip Chaichompoo
- , Ramaneeya Nithipongvanitch
- & Saovaros Svasti
-
Article
| Open AccessGenetic causal inference between amblyopia and perinatal factors
- Ju-Yeun Lee
- , Sangjun Lee
- & Sue K. Park
-
Article
| Open AccessApproaches to long-read sequencing in a clinical setting to improve diagnostic rate
- Erica Sanford Kobayashi
- , Serge Batalov
- & Matthew N. Bainbridge
-
Article
| Open AccessRole of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis
- Samuel Deshayes
- , Thibault Fraisse
- & Sophie Georgin-Lavialle
-
Article
| Open AccessThe role of CPT1A as a biomarker of breast cancer progression: a bioinformatic approach
- Mitali Das
- , Athina Giannoudis
- & Vijay Sharma
-
Article
| Open AccessClinical and NGS predictors of response to regorafenib in recurrent glioblastoma
- Silvia Chiesa
- , Antonella Mangraviti
- & Quintino Giorgio D’Alessandris
-
Article
| Open AccessGenetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery
- Hairui Sun
- , Lu Han
- & Yihua He
-
Article
| Open AccessUltrasound features of multinodular goiter in DICER1 syndrome
- Marek Niedziela
- , Karl Muchantef
- & William D. Foulkes
-
Article
| Open AccessChromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
- Ana C. V. Krepischi
- , Darine Villela
- & Carla Rosenberg
-
Article
| Open AccessIdentification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
- Nanna Dahl Rendtorff
- , Helena Gásdal Karstensen
- & Lisbeth Tranebjærg
-
Article
| Open AccessClinical parameter-based prediction of DNA methylation classification generates a prediction model of prognosis in patients with juvenile myelomonocytic leukemia
- Takahiro Imaizumi
- , Julia Meyer
- & Hideki Muramatsu
-
Article
| Open AccessFoveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy
- Laura A. Jenny
- , Pei-Kang Liu
- & Stephen H. Tsang
-
Article
| Open AccessWhole-exome analysis of 177 pediatric patients with undiagnosed diseases
- Kotaro Narita
- , Hideki Muramatsu
- & Yoshiyuki Takahashi
-
Article
| Open AccessUnderstanding the genetics of viral drug resistance by integrating clinical data and mining of the scientific literature
- An Goto
- , Raul Rodriguez-Esteban
- & Garrett M. Morris
-
Article
| Open AccessPTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
- Kirsi J. Rautajoki
- , Serafiina Jaatinen
- & Matti Nykter
-
Article
| Open AccessChromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
- Giulio Genovese
- , Curtis J. Mello
- & Steven A. McCarroll
-
Article
| Open AccessPoly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events
- Hiroki Ura
- , Sumihito Togi
- & Yo Niida
-
Article
| Open AccessPresence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
- Rosario López-Rodríguez
- , Marta Del Pozo-Valero
- & Carmen Ayuso
-
Article
| Open AccessDisease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
- Malte Zorn
- , Jirko Kühnisch
- & Wenke Seifert
-
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 AccessAlteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children
- Martin Bezdicka
- , Filip Kaufman
- & Ondrej Soucek
-
Article
| Open AccessAnalysis of circRNAs and circRNA-associated competing endogenous RNA networks in β-thalassemia
- Fang Yang
- , Heyun Ruan
- & Ketong Lai
-
Article
| Open AccessParental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
- Caio Robledo D.’Angioli Costa Quaio
- , Jose Ricardo Magliocco Ceroni
- & Chong Ae Kim