Shamil R Sunyaev

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Inferring causality and functional significance of human coding DNA variants.

Shamil R Sunyaev, S. Sunyaev, 2012, Human molecular genetics.

Exome sequencing and the genetic basis of complex traits

Adam Kiezun, Patrik Magnusson, Shamil R Sunyaev, 2012, Nature Genetics.

Differential relationship of DNA replication timing to different forms of human mutation and variation.

Paz Polak, Shamil R Sunyaev, Jacob J Michaelson, 2012, American journal of human genetics.

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune disease-associated loci in three major immune cell types

Nikolaos A Patsopoulos, Shamil R Sunyaev, Philip L De Jager, 2017, Nature Genetics.

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Alexander Hoischen, Gunnar Houge, Matthew S. Lebo, 2013, Proceedings of the National Academy of Sciences.

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

Shamil R Sunyaev, Len A Pennacchio, S. Sunyaev, 2007, American journal of human genetics.

Leveraging distant relatedness to quantify human mutation and gene conversion rates

John Wakeley, Alexander Gusev, Sriram Sankararaman, 2015, bioRxiv.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Predrag Radivojac, Biao Li, Alun Thomas, 2013, Human mutation.

Pooled association tests for rare variants in exon-resequencing studies.

Shamil R Sunyaev, Shaun M Purcell, Lee-Jen Wei, 2010, American journal of human genetics.

Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.

Xiaofeng Zhu, Tamar Sofer, Raanan Arens, 2016, American journal of respiratory and critical care medicine.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Angeliki Pantazi, Nikolaos A Patsopoulos, Ignaty Leshchiner, 2018, npj Genomic Medicine.