Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

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

(2020) Konrad J. Karczewski et al.   NATURE

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

(2019) Sahar Gelfman et al.   GENOME RESEARCH

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

(2019) Jason Flannick et al.   NATURE

Evolutionary coupling analysis identifies the impact of disease-associated variants at less-conserved sites

(2019) Donghyo Kim et al.   NUCLEIC ACIDS RESEARCH

VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis

(2019) Moran Hausman-Kedem et al.   NEUROGENETICS

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

(2018) Iria Roca et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

(2018) Neha S. Raghavan et al.   Annals of Clinical and Translational Neurology

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

(2018) Adi Shohet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

(2017) Tarjinder Singh et al.   NATURE GENETICS

Annotating pathogenic non-coding variants in genic regions

(2017) Sahar Gelfman et al.   Nature Communications

DNA mutation motifs in the genes associated with inherited diseases

(2017) Michal Růžička et al.   PLoS One

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

(2016)   NEW ENGLAND JOURNAL OF MEDICINE

Molecular signatures define alopecia areata subtypes and transcriptional biomarkers

(2016) Ali Jabbari et al.   EBioMedicine

The autoimmune basis of alopecia areata: A comprehensive review

(2015) Naseeha Islam et al.   AUTOIMMUNITY REVIEWS

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition

(2014) Luzhou Xing et al.   NATURE MEDICINE

Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism

(2014) Iuliana Ionita-Laza et al.   PLoS Genetics

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Annotation of sheep keratin intermediate filament genes and their patterns of expression

(2011) Zhidong Yu et al.   EXPERIMENTAL DERMATOLOGY

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

(2010) Lynn Petukhova et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The molecular basis of human keratin disorders

(2009) Meral Julia Arin   HUMAN GENETICS

The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice

(2009) M. Kiso et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The human keratins: biology and pathology

(2008) Roland Moll et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Distribution and Effects of Nonsense Polymorphisms in Human Genes

(2008) Yumi Yamaguchi-Kabata et al.   PLoS One