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| Open AccessFalse negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
- Jonas M. den Heijer
- , Arnoud Schmitz
- & Geert Jan Groeneveld
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| Open AccessPhenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
- Ine Strubbe
- , Caroline Van Cauwenbergh
- & Bart P. Leroy
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| Open AccessQuantile-specific heritability of sibling leptin concentrations and its implications for gene-environment interactions
- Paul T. Williams
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| Open AccessCCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs
- Leonardo Murgiano
- , Doreen Becker
- & Keiko Miyadera
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| Open AccessPremature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay
- Claire Guissart
- , Kevin Mouzat
- & Serge Lumbroso
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| Open AccessClassifyCNV: a tool for clinical annotation of copy-number variants
- Tatiana A. Gurbich
- & Valery Vladimirovich Ilinsky
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| Open AccessUltrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
- Ni-Chung Lee
- , Wei-Hao Peng
- & Yin-Hsiu Chien
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| Open AccessAccuracy and efficiency of germline variant calling pipelines for human genome data
- Sen Zhao
- , Oleg Agafonov
- & Eivind Hovig
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| Open AccessWhole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
- Arash Salmaninejad
- , Nicola Bedoni
- & Carlo Rivolta
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| Open AccessMapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus)
- Georgina Samaha
- , Claire M. Wade
- & Bianca Haase
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| Open AccessPopulation pharmacokinetics of levodopa gel infusion in Parkinson’s disease: effects of entacapone infusion and genetic polymorphism
- M. Senek
- , D. Nyholm
- & E. I. Nielsen
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Article
| Open AccessAlcohol consumption is associated with glaucoma severity regardless of ALDH2 polymorphism
- Young Soo Han
- , Yong Woo Kim
- & Jin Wook Jeoung
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| Open AccessGermline BRCA 1-2 status prediction through ovarian ultrasound images radiogenomics: a hypothesis generating study (PROBE study)
- Camilla Nero
- , Francesca Ciccarone
- & Giovanni Scambia
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Article
| Open AccessExpanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin
- Samya Chakravorty
- , Rachel Logan
- & Sumit Verma
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| Open AccessCopy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
- Meiying Cai
- , Na Lin
- & Hailong Huang
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| Open AccessMulti-omic studies on missense PLG variants in families with otitis media
- Tori C. Bootpetch
- , Lena Hafrén
- & Regie Lyn P. Santos-Cortez
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| Open AccessDietary intake and nutritional status of patients with phenylketonuria in Taiwan
- Hui-Ling Weng
- , Feng-Jung Yang
- & Yin-Hsiu Chien
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| Open AccessMolecular characterization of Wdr13 knockout female mice uteri: a model for human endometrial hyperplasia
- Shalu Singh
- , Sivapriya Pavuluri
- & Satish Kumar
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| Open AccessSegregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition
- Simona Agata
- , Silvia Tognazzo
- & Marco Montagna
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| Open AccessA novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
- Daniel R. Evans
- , Jane S. Green
- & Michael O. Woods
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| Open AccessQuantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease
- Alessio Gamba
- , Mario Salmona
- & Gianfranco Bazzoni
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| Open AccessPlasma metabolome and cognitive skills in Down syndrome
- Francesca Antonaros
- , Veronica Ghini
- & Maria Caracausi
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| Open AccessCRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness
- Jeffrey Y. Huang
- , Shih-Hsin Kan
- & Raymond Y. Wang
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| Open AccessA novel loss-of-function mutation of PBK associated with human kidney stone disease
- Choochai Nettuwakul
- , Nunghathai Sawasdee
- & Pa-thai Yenchitsomanus
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| Open AccessProfound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
- Davide Rovina
- , Marta La Vecchia
- & Silvia M. Sirchia
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| Open AccessGenetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
- Lizhu Yang
- , Kaoru Fujinami
- & Yasuhiro Murakawa
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| Open AccessGene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations
- Paul T. Williams
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| Open AccessGenomic alterations and abnormal expression of APE2 in multiple cancers
- Katherine A. Jensen
- , Xinghua Shi
- & Shan Yan
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| Open AccessGenetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
- Jonas Straub
- , Anne Gregor
- & Christiane Zweier
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| Open AccessChronic heavy alcohol consumption influences the association between genetic variants of GCK or INSR and the development of diabetes in men: A 12-year follow-up study
- Han Byul Jang
- , Min Jin Go
- & Seong Beom Cho
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| Open AccessA de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
- Bianca R. Grosz
- , Natasha B. Golovchenko
- & Marina L. Kennerson
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| Open AccessDamaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities
- Maria Koromina
- , Miles Flitton
- & Helen M. Knight
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| Open AccessCopy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil
- Tiago Fernando Chaves
- , Nathacha Baretto
- & Angelica Francesca Maris
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| Open AccessPost-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes
- Troy C. Lund
- , Weston P. Miller
- & Paul J. Orchard
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| Open AccessEvaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity
- Misuzu Ueki
- , Kaori Kimura-Kataoka
- & Toshihiro Yasuda
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| Open AccessSegregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
- Muhammad Aslam
- , Anwar Ullah
- & Jakob von Engelhardt
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| Open AccessAn actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
- Shona M. Kerr
- , Lucija Klaric
- & James F. Wilson
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| Open AccessGenome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals
- Ching-Ti Liu
- , Jordi Merino
- & Nabila Bouatia-Naji
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| Open AccessNTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas
- Sami Belhadj
- , Isabel Quintana
- & Laura Valle
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| Open AccessBirth weight is not causally associated with adult asthma: results from instrumental variable analyses
- Ping Zeng
- , Xinghao Yu
- & Xiang Zhou
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| Open AccessBiogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
- U. S. Esperón-Moldes
- , J. Pardo-Seco
- & A. Vega
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| Open AccessCharacterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
- Uriel López-Sánchez
- , Gaël Nicolas
- & Marc Sitbon
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| Open AccessExome sequencing in patients with chronic central serous chorioretinopathy
- Rosa L. Schellevis
- , Myrte B. Breukink
- & Anneke I. den Hollander
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| Open AccessSignificance of the Tks4 scaffold protein in bone tissue homeostasis
- Virag Vas
- , Tamás Kovács
- & László Buday
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| Open AccessTowards Improving Embryo Prioritization: Parallel Next Generation Sequencing of DNA and RNA from a Single Trophectoderm Biopsy
- Noga Fuchs Weizman
- , Brandon A. Wyse
- & Clifford L. Librach
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| Open AccessPlasmodium falciparum histidine-rich protein (PfHRP2 and 3) diversity in Western and Coastal Kenya
- David Nderu
- , Francis Kimani
- & Thirumalaisamy P. Velavan
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| Open AccessElucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
- Jae Joon Han
- , Pham Dinh Nguyen
- & Byung Yoon Choi
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| Open AccessMutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
- Ting Chen
- , Weize Xu
- & Qiang Shu
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| Open AccessMolecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity
- Małgorzata Beręsewicz
- , Łukasz Charzewski
- & Barbara Zabłocka