Mono- and biallelic variant effects on disease at biobank scale

FinnGen provides genetic insights from a well-phenotyped isolated population

(2023) Mitja I. Kurki et al.   NATURE

A spectrum of recessiveness among Mendelian disease variants in UK Biobank

(2022) Alison R. Barton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Toward a fine-scale population health monitoring system

(2021) Gillian M. Belbin et al.   CELL

The impact of non-additive genetic associations on age-related complex diseases

(2021) Marta Guindo-Martínez et al.   Nature Communications

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

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

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

LDtrait: An Online Tool for Identifying Published Phenotype Associations in Linkage Disequilibrium

(2020) Shu-Hong Lin et al.   CANCER RESEARCH

A simple new approach to variable selection in regression, with application to genetic fine mapping

(2020) Gao Wang et al.   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How good are pathogenicity predictors in detecting benign variants?

(2019) Abhishek Niroula et al.   PLoS Computational Biology

Exome sequencing of Finnish isolates enhances rare-variant association power

(2019) Adam E. Locke et al.   NATURE

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

(2018) Alicia R. Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A

(2018) Yuko Hirai et al.   JOURNAL OF HUMAN GENETICS

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Fine-Scale Genetic Structure in Finland

(2017) Sini Kerminen et al.   G3-Genes Genomes Genetics

The population genetics of human disease: The case of recessive, lethal mutations

(2017) Carlos Eduardo G. Amorim et al.   PLoS Genetics

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

(2017) Gillian Morven Belbin et al.   eLife

A frameshift deletion in the sarcomere geneMYL4causes early-onset familial atrial fibrillation

(2016) Daniel F. Gudbjartsson et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

(2013) Anne Polvi et al.   HUMAN MUTATION

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

(2013) Dylan K. Chan et al.   LARYNGOSCOPE

Gene balance hypothesis: Connecting issues of dosage sensitivity across biological disciplines

(2012) J. A. Birchler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanistic Links Between Na + Channel (SCN5A) Mutations and Impaired Cardiac Pacemaking in Sick Sinus Syndrome

(2010) Timothy D. Butters et al.   CIRCULATION RESEARCH

Clinical consequences of heterozygosity for autosomal-recessive diseases*,**

(2010) F. Vogel   CLINICAL GENETICS

Mutations in GDF5 presenting as semidominant brachydactyly A1

(2010) Ashley M. Byrnes et al.   HUMAN MUTATION

Genetic variation in human HBB is associated with Plasmodium falciparum transmission

(2010) Louis Clement Gouagna et al.   NATURE GENETICS

Clinical Features and Long-Term Outcome of Nephrotic Syndrome Associated with Heterozygous NPHS1 and NPHS2 Mutations

(2009) G. Caridi et al.   Clinical Journal of the American Society of Nephrology