S. Tuna

发表

Allelic Landscape of Human Blood Cell Trait Variation and Links

William J. Astle, James R. Staley, J. Danesh, 2016 .

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Kenneth G. C. Smith, S. Tavaré, M. Brown, 2019, The Journal of experimental medicine.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Sri V. V. Deevi, W. Ouwehand, A. Attwood, 2016, Blood.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

The Dnmt3L ADD Domain Controls Cytosine Methylation Establishment during Spermatogenesis

Robert J. Schmitz, Chad E. Niederhuth, Richard G. Jenner, 2015, Cell reports.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Sri V. V. Deevi, Nicholas S. Gleadall, W. Ouwehand, 2018, bioRxiv.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.

Kenneth G. C. Smith, M. Brown, É. Oksenhendler, 2018 .

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Ernest Turro, Daniel Greene, Kate Downes, 2017, Blood.

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.

K. Stirrups, C. Penkett, K. Megy, 2020, Journal of the American Society of Nephrology : JASN.

Craniometric Analysis of Skullbase With Magnetic Resonance Imaging in Patients With Chiari Malformation

S. Tuna, G. Guvenc, C. Kızmazoğlu, 2019, The Journal of craniofacial surgery.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

Reducing the algorithmic variability in transcriptome-based inference

Mahesan Niranjan, Salih Tuna, M. Niranjan, 2010, Bioinform..

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Inference from Low Precision Transcriptome Data Representation

Mahesan Niranjan, Salih Tuna, M. Niranjan, 2010, J. Signal Process. Syst..

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

P. Deloukas, J. Erdmann, C. Hengstenberg, 2014, BMC Cardiovascular Disorders.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, C. Tregidgo, 2020, Nature Communications.

Development and validation of a universal blood donor genotyping platform: a multinational prospective study.

William J. Astle, Colin J. Brown, Nicholas S. Gleadall, 2020, Blood advances.

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

William J. Astle, Jonathan M. Cairns, Benjamin B. Sun, 2017, Nature Communications.