H. L. Allen

发表

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Tanya M. Teslovich, Ayellet V. Segrè, P. Elliott, 2010 .

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Anna Murray, Khalid Hussain, Ludovic Vallier, 2013, Nature Genetics.

Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index

Henrik, Tanya M. Teslovich, Jennie, 2012 .

GATA6 haploinsufficiency causes pancreatic agenesis in humans

A. Hattersley, S. Ellard, C. Shaw-Smith, 2011, Nature Genetics.

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.

Thousands of missing variants in the UK BioBank are recoverable by genome realignment

T. Ideker, Brenton P. Munson, A. Majithia, 2019, bioRxiv.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

Kenneth G. C. Smith, J. Stephens, T. Vyse, 2022, Science Immunology.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Thomas Meitinger, Inês Barroso, Peter Kraft, 2010, Nature 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

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

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

Sri V. V. Deevi, H. Firth, J. Stephens, 2020, Clinical immunology.

Genetic evidence of assortative mating in humans

Tanya M. Teslovich, Ross M. Fraser, Brendan P. Zietsch, 2017, Nature Human Behaviour.

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Sri V. V. Deevi, Kenneth G. C. Smith, Nicholas S. Gleadall, 2018, bioRxiv.

The role of common genetic variation in model polygenic and monogenic traits

H. L. Allen, 2010 .

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

A. Hattersley, S. Ellard, H. L. Allen, 2015, The Lancet.

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

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

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.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

M. Weedon, A. Hattersley, K. Kos, 2013, Nature Genetics.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Thomas Meitinger, Inês Barroso, Peter Kraft, 2011, Nature Genetics.

Differential IRF8 Requirement Defines Two Pathways of Dendritic Cell Development in Humans

David McDonald, A. Filby, H. L. Allen, 2019, SSRN Electronic Journal.

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

J. Kere, A. Hattersley, Å. Lernmark, 2014, Nature Genetics.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

S. Ellard, H. L. Allen, P. Brennan, 2016, Clinical endocrinology.

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

Sri V. V. Deevi, Kenneth G. C. Smith, K. Stirrups, 2018, bioRxiv.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

M. Weedon, A. Hattersley, S. Ellard, 2013, Diabetologia.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Tanya M. Teslovich, P. Elliott, M. Jarvelin, 2011, Nature Genetics.

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

S. Ellard, H. Lango Allen, H. L. Allen, 2017, Pediatric diabetes.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

Association analyses of 249 , 796 individuals reveal 18 new loci associated with body mass index

Tanya M. Teslovich, Eric, P. Elliott, 2012 .

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Tanya M. Teslovich, P. Elliott, M. Jarvelin, 2010, Nature Genetics.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.