Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

(2021) Erna V. Ivarsdottir et al.   Communications Biology

Age-Related Hearing Loss Is Dominated by Damage to Inner Ear Sensory Cells, Not the Cellular Battery That Powers Them

(2020) Pei-zhe Wu et al.   JOURNAL OF NEUROSCIENCE

Dementia prevention, intervention, and care: 2020 report of the Lancet Commission

(2020) Gill Livingston et al.   LANCET

Whole Exome Sequencing Reveals Pathogenic Variants in MYO3A, MYO15A and COL9A3, and Differential Frequencies in Ancestral Alleles in Hearing Impairment Genes Among Individuals from Cameroon

(2020) Ambroise Wonkam et al.   HUMAN MOLECULAR GENETICS

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice

(2020) Elisa Martelletti et al.   Frontiers in Cellular Neuroscience

Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty

(2020) Gurmannat Kalra et al.   PLoS Genetics

MAP7D2 Localizes to the Proximal Axon and Locally Promotes Kinesin-1-Mediated Cargo Transport into the Axon

(2019) Xingxiu Pan et al.   Cell Reports

LMO7 deficiency reveals the significance of the cuticular plate for hearing function

(2019) Ting-Ting Du et al.   Nature Communications

Critical role of spectrin in hearing development and deafness

(2019) Yan Liu et al.   Science Advances

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids

(2019) Pei-Ciao Tang et al.   Stem Cell Reports

GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank

(2019) Helena R.R. Wells et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate, scalable and integrative haplotype estimation

(2019) Olivier Delaneau et al.   Nature Communications

Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

(2019) Andries Paul Nagtegaal et al.   Scientific Reports

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

(2018) Amanda Dobbyn et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hearing loss prevalence and risk factors among older adults in China

(2018) Rui Gong et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

Integrating single-cell transcriptomic data across different conditions, technologies, and species

(2018) Andrew Butler et al.   NATURE BIOTECHNOLOGY

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

(2018) Morag A. Lewis et al.   BMC Medical Genomics

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

(2018) Steven Gazal et al.   NATURE GENETICS

A Kelch domain-containing KLHDC7B and a long non-coding RNA ST8SIA6-AS1 act oppositely on breast cancer cell proliferation via the interferon signaling pathway

(2018) Gookjoo Jeong et al.   Scientific Reports

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

(2018) Andrea Hanson-Kahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions

(2018) Sarah M. Urbut et al.   NATURE GENETICS

Cell-Specific Transcriptome Analysis Shows That Adult Pillar and Deiters' Cells Express Genes Encoding Machinery for Specializations of Cochlear Hair Cells

(2018) Huizhan Liu et al.   Frontiers in Molecular Neuroscience

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Hearing Loss in Adults

(2017) Lisa L. Cunningham et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital hearing loss

(2017) Anna M. H. Korver et al.   Nature Reviews Disease Primers

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

(2016) Thomas J. Hoffmann et al.   PLoS Genetics

Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss

(2015) Dragana Vuckovic et al.   HUMAN MOLECULAR GENETICS

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

(2015) Imen Chakchouk et al.   MOLECULAR GENETICS AND GENOMICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

(2014) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways

(2014) Anya Rudnicki et al.   BMC GENOMICS

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

(2014) Erik Fransen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

(2014) Lisa E. Wolber et al.   HUMAN MOLECULAR GENETICS

KCTD10 Is Involved in the Cardiovascular System and Notch Signaling during Early Embryonic Development

(2014) Kaiqun Ren et al.   PLoS One

Kctd10 regulates heart morphogenesis by repressing the transcriptional activity of Tbx5a in zebrafish

(2014) Xiangjun Tong et al.   Nature Communications

 -Actin and Fascin-2 Cooperate to Maintain Stereocilia Length

(2013) B. J. Perrin et al.   JOURNAL OF NEUROSCIENCE

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

(2013) Lisa S. Nolan et al.   NEUROBIOLOGY OF AGING

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

(2013) Hideki Mutai et al.   Orphanet Journal of Rare Diseases

Familial Aggregation of Pure Tone Hearing Thresholds in an Aging European Population

(2013) Jan-Jaap Hendrickx et al.   OTOLOGY & NEUROTOLOGY

Heritability of Hearing Loss

(2012) Ellen Kvestad et al.   EPIDEMIOLOGY

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

(2011) Lydie Fasquelle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

(2011) G. Girotto et al.   JOURNAL OF MEDICAL GENETICS

The roles of fascins in health and disease

(2011) Yosuke Hashimoto et al.   JOURNAL OF PATHOLOGY

Full spectrum genetics

(2011)   NATURE GENETICS

A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart

(2011) Shehnaaz S. M. Manji et al.   PLoS One

A genome-wide association study for age-related hearing impairment in the Saami

(2010) Lut Van Laer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Connexin-26 mutations in deafness and skin disease

(2009) Jack R. Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

GRM7 variants confer susceptibility to age-related hearing impairment

(2008) Rick A. Friedman et al.   HUMAN MOLECULAR GENETICS