Jonathan Stephens

发表

Nuclear Thermal Propulsion Project - Cryogenic Fluid Management Studies for NTP

David W. Plachta, Arthur Werkheiser, Jonathan Stephens, 2018 .

Validation, Verification & Upgrading of Southampton University Formation Flying Test-bed

Jonathan Stephens, Christian Abelsson, Peter Ashworth, 2006 .

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

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

The Voices of Children

Jonathan Stephens, Jonathan Stephens, 2005 .

Blood pressure loci identified with a gene-centric array.

Jean Tichet, Tom R. Gaunt, Jackie A Cooper, 2011, American journal of human genetics.

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Christian Gieger, Thomas Meitinger, Inês Barroso, 2009, Nature Genetics.

Multiple Loci Are Associated with White Blood Cell Phenotypes

Christian Gieger, Yusuke Nakamura, Kazuhiko Yamamoto, 2011, PLoS genetics.

New gene functions in megakaryopoiesis and platelet formation

Christian Gieger, Yusuke Nakamura, Ian J. Deary, 2011, Nature.

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.

FTO genotype is associated with phenotypic variability of body mass index

Joel Eriksson, Joseph E. Powell, Andres Metspalu, 2012, Nature.

Seventy-five genetic loci influencing the human red blood cell

Christian Gieger, Ian J. Deary, Uwe Völker, 2012, Nature.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

Christian Gieger, Uwe Völker, Mario Falchi, 2009, Nature Genetics.

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.

A genome-wide association study identifies three loci associated with mean platelet volume.

Christian Gieger, Thomas Meitinger, Henry Völzke, 2009, American journal of human genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, 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.

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

Inês Barroso, Kourosh R. Ahmadi, Nicole Soranzo, 2009, PLoS genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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