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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 AccessMachine learning random forest for predicting oncosomatic variant NGS analysis
- Eric Pellegrino
- , Coralie Jacques
- & L’Houcine Ouafik
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| Open AccessNovel findings from family-based exome sequencing for children with biliary atresia
- Kien Trung Tran
- , Vinh Sy Le
- & Liem Thanh Nguyen
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| Open AccessA broad comparative genomics approach to understanding the pathogenicity of Complex I mutations
- Galya V. Klink
- , Hannah O’Keefe
- & Joanna L. Elson
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| Open AccessMultilocus sequence analysis reveals genetic diversity in Staphylococcus aureus isolate of goat with mastitis persistent after treatment with enrofloxacin
- Richard Costa Polveiro
- , Manuela Maria Cavalcante Granja
- & Maria Aparecida Scatamburlo Moreira
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| Open AccessIdentification of germline cancer predisposition variants during clinical ctDNA testing
- Leigh Anne Stout
- , Nawal Kassem
- & Bryan P. Schneider
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| Open AccessA gain-of-function NLRP3 3′-UTR polymorphism causes miR-146a-mediated suppression of NLRP3 expression and confers protection against sepsis progression
- Furong Lu
- , Hongpeng Chen
- & Yiming Shao
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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 AccessAn in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia
- Anita Kloss-Brandstätter
- , Monika Summerer
- & Hansi Weissensteiner
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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 AccessA TILLING by sequencing approach to identify induced mutations in sunflower genes
- Valentina Fanelli
- , Kathie J. Ngo
- & Stacey L. Harmer
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| Open AccessA novel tissue specific alternative splicing variant mitigates phenotypes in Ets2 frame-shift mutant models
- Yuki Kishimoto
- , Iori Nishiura
- & Ayako Isotani
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| Open AccessSTORM imaging reveals the spatial arrangement of transition zone components and IFT particles at the ciliary base in Tetrahymena
- Khodor S. Hazime
- , Zhu Zhou
- & Jarema J. Malicki
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| 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
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| Open AccessIdentification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle
- Shinji Sasaki
- , Toshio Watanabe
- & Yutaka Suzuki
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| Open AccessExploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia
- Celeste Sassi
- , Rosa Capozzo
- & Giancarlo Logroscino
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| Open AccessA novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts
- Yuyan You
- , Chao Bai
- & Suhui Xu
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| Open AccessThe histone replacement gene His4r is involved in heat stress induced chromatin rearrangement
- Anikó Faragó
- , Adél Ürmösi
- & László Bodai
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| Open AccessSophisticated viral quasispecies with a genotype-related pattern of mutations in the hepatitis B X gene of HBeAg-ve chronically infected patients
- Maria Francesca Cortese
- , Carolina González
- & Francisco Rodríguez-Frías
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| Open AccessGenetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
- Nejat Mahdieh
- , Mahdieh Soveizi
- & Bahareh Rabbani
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| Open AccessSpectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population
- Ruixue Zhang
- , Rong Qiang
- & Na Cai
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| Open AccessDeficiency of the RIβ subunit of protein kinase A causes body tremor and impaired fear conditioning memory in rats
- Hieu Hoang Trung
- , Toru Yoshihara
- & Takashi Kuramoto
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| Open AccessRole of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population
- Yanmei Ruan
- , Jinwei Zhang
- & Zhi Wang
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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 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 AccessMicroRNA retrocopies generated via L1-mediated retrotransposition in placental mammals help to reveal how their parental genes were transcribed
- Cheng-Tsung Pan
- & Yeong-Shin Lin
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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 AccessHigh prevalence of mcr-1-encoded colistin resistance in commensal Escherichia coli from broiler chicken in Bangladesh
- Shahana Ahmed
- , Tridip Das
- & John Elmerdahl Olsen
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| Open AccessEstablishment and application of a novel method based on single nucleotide polymorphism analysis for detecting β-globin gene cluster deletions
- Siqi Hu
- , Wenli Zhan
- & Mingyong Luo
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Article
| Open AccessA large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed
- Mitchell J. O’Brien
- , Niek J. Beijerink
- & Claire M. Wade
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| Open AccessGenome analysis of American minks reveals link of mutations in Ras-related protein-38 gene to Moyle brown coat phenotype
- Andrey D. Manakhov
- , Maria Yu. Mintseva
- & Evgeny I. Rogaev
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| Open AccessIdentification of pathogenic missense mutations using protein stability predictors
- Lukas Gerasimavicius
- , Xin Liu
- & Joseph A. Marsh
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| Open AccessEvaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses
- Danilo Giorgi Abranches de Andrade
- , Roberta Martins Basso
- & José Paes de Oliveira-Filho
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| Open AccessNon-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
- Yichuan Liu
- , Xiao Chang
- & Hakon Hakonarson
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| Open AccessCharacterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
- Mauro Lago-Docampo
- , Jair Tenorio
- & Diana Valverde
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| Open AccessIdentification of the Wallenda JNKKK as an Alk suppressor reveals increased competitiveness of Alk-expressing cells
- Georg Wolfstetter
- , Kathrin Pfeifer
- & Ruth H. Palmer
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| Open AccessInsights into the molecular-level effects of atmospheric and room-temperature plasma on mononucleotides and single-stranded homo- and hetero-oligonucleotides
- Liyan Wang
- , Hongxin Zhao
- & Xin-Hui Xing
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| Open AccessMITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
- Supranee Thongpradit
- , Natini Jinawath
- & Duangrurdee Wattanasirichaigoon
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| Open AccessUltrasensitive amplicon barcoding for next-generation sequencing facilitating sequence error and amplification-bias correction
- Ibrahim Ahmed
- , Felicia A. Tucci
- & Rachael J. M. Bashford-Rogers
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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 AccessStrand with mutagenic lesion is preferentially used as a template in the region of a bi-stranded clustered DNA damage site in Escherichia coli
- Naoya Shikazono
- & Ken Akamatsu
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| Open AccessShared and Independent Genetic Basis of Resistance to Bt Toxin Cry2Ab in Two Strains of Pink Bollworm
- Jeffrey A. Fabrick
- , Dannialle M. LeRoy
- & Bruce E. Tabashnik
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| Open AccessFirst report of AChE1 (G119S) mutation and multiple resistance mechanisms in Anopheles gambiae s.s. in Nigeria
- Ifeoluwa Kayode Fagbohun
- , Emmanuel Taiwo Idowu
- & Taiwo Samson Awolola
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| Open AccessDifferential impact on motility and biofilm dispersal of closely related phosphodiesterases in Pseudomonas aeruginosa
- Yu-ming Cai
- , Andrew Hutchin
- & Ivo Tews
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| Open AccessGenome-Wide Analysis of MicroRNA-related Single Nucleotide Polymorphisms (SNPs) in Mouse Genome
- Gideon Omariba
- , Fuyi Xu
- & Junhua Xiao
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| Open AccessDisruption in murine Eml1 perturbs retinal lamination during early development
- G. B. Collin
- , J. Won
- & P. M. Nishina
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| Open AccessDuck plague virus gE serves essential functions during the virion final envelopment through influence capsids budding into the cytoplasmic vesicles
- Tian Liu
- , Mingshu Wang
- & Xiaoyue Chen
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| Open AccessExome sequencing identifies novel mutation signatures of UV radiation and trichostatin A in primary human keratinocytes
- Yao Shen
- , Wootae Ha
- & Liang Liu
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| Open AccessIdentification and functional characterisation of N-linked glycosylation of the orphan G protein-coupled receptor Gpr176
- Tianyu Wang
- , Shumpei Nakagawa
- & Masao Doi