Kathleen Stirrups

发表

Supplementary Material 6

Jianxin Shi, Mark I. McCarthy, Karen L. Mohlke, 2014 .

Discovery and Refinement Supplementary

Christian Gieger, Cisca Wijmenga, Inês Barroso, 2015 .

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Inês Barroso, Jiyoung Heo, Beverley Balkau, 2015, Nature communications.

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Andrew R. Webster, Topun Austin, Kathleen Stirrups, 2018, Genome Medicine.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

William J. Astle, Suthesh Sivapalaratnam, Kathleen Stirrups, 2017, Blood.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Lieven Lagae, Kathleen Stirrups, Ernest Turro, 2019, JIMD reports.

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.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Christian Gieger, Jianxin Shi, Inês Barroso, 2013, Nature Genetics.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

Claude Bouchard, Beverley Balkau, Bengt Sennblad, 2012, Nature Genetics.

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.

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Claude Bouchard, Christian Gieger, Joel Eriksson, 2016, Nature communications.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Kathleen Stirrups, Isabelle Meyts, Ernest Turro, 2018, The Journal of allergy and clinical immunology.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Taesung Park, Christian Gieger, Tien Yin Wong, 2017, Scientific Data.

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Gerard Tromp, Marylyn D. Ritchie, Dana C. Crawford, 2017, Circulation research.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Sylvia Richardson, Kathleen Stirrups, Wendy N. Erber, 2016, Science Translational Medicine.

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

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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