Exome-Based Rare-Variant Analyses in CKD

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance

(2019) Tristan J. Hayeck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PCSK9 and Hypercholesterolemia: Therapeutic Approach

(2018) Milan Obradovic et al.   CURRENT DRUG TARGETS

Impact of a five-dimensional framework on R&D productivity at AstraZeneca

(2018) Paul Morgan et al.   NATURE REVIEWS DRUG DISCOVERY

UBDmodifiesAPOL1-induced kidney disease risk

(2018) Jia-Yue Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

Diagnostic Utility of Exome Sequencing for Kidney Disease

(2018) Emily E. Groopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling

(2017) Jianshuang Li et al.   HUMAN MOLECULAR GENETICS

Isolated polycystic liver disease genes define effectors of polycystin-1 function

(2017) Whitney Besse et al.   JOURNAL OF CLINICAL INVESTIGATION

Chronic Kidney Disease

(2017) Angela C Webster et al.   LANCET

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

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

(2017) Xiaolin Zhu et al.   PLoS Genetics

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

(2017) Mathias Gorski et al.   Scientific Reports

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders

(2016) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

(2016) Richard D. Bagnall et al.   ANNALS OF NEUROLOGY

Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015

(2016) Haidong Wang et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Exploring the genetic basis of early-onset chronic kidney disease

(2016) Asaf Vivante et al.   Nature Reviews Nephrology

Apolipoprotein L1 and Kidney Disease in African Americans

(2016) David J. Friedman et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

(2016) Cristian Pattaro et al.   Nature Communications

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

APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans

(2015) A. N. Kasembeli et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

(2015) Bridget D Stuart et al.   NATURE GENETICS

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

(2015) Christine Gast et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

APOL1 Kidney Disease Risk Variants: An Evolving Landscape

(2015) Patrick D. Dummer et al.   SEMINARS IN NEPHROLOGY

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy

(2015) Sara L. Van Driest et al.   PLoS One

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

(2014) Fan Xia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

(2014) Andrew F. Malone et al.   KIDNEY INTERNATIONAL

The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia

(2014) Andrew Mallett et al.   Orphanet Journal of Rare Diseases

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

APOL1 Variants Associate with Increased Risk of CKD among African Americans

(2013) M. C. Foster et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski 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

APOL1 Variants Increase Risk for FSGS and HIVAN but Not IgA Nephropathy

(2011) N. Papeta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors

(2010) Qiong Yang et al.   Circulation-Cardiovascular Genetics

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

(2010) Shay Tzur et al.   HUMAN GENETICS

New loci associated with kidney function and chronic kidney disease

(2010) Anna Köttgen et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Multiple loci associated with indices of renal function and chronic kidney disease

(2009) Anna Köttgen et al.   NATURE GENETICS

Rosuvastatin and Cardiovascular Events in Patients Undergoing Hemodialysis

(2009) Bengt C. Fellström et al.   NEW ENGLAND JOURNAL OF MEDICINE

Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

(2009) Melanie Kolz et al.   PLoS Genetics