H. Lango Allen

发表

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Ayellet V. Segrè, Cameron D. Palmer, P. Elliott, 2010, Nature.

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.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

A. Hattersley, S. Ellard, C. Shaw-Smith, 2015, European Journal of Human Genetics.

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

A. Hattersley, S. Ellard, J. Edge, 2014, Cell metabolism.

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

David McDonald, A. Filby, H. Lango Allen, 2020, Immunity.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Detection and characterization of male sex chromosome abnormalities in the UK Biobank study.

J. Tyrrell, T. Frayling, M. Weedon, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

A. Hattersley, S. Ellard, C. Shaw-Smith, 2014, Diabetes.

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.

Copy number variation of LINGO1 in familial dystonic tremor

J. Chilton, T. Iype, E. Louis, 2019, Neurology: 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.

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

M. Nelen, A. Wagner, H. Lango Allen, 2022, Blood advances.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

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

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

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes

T. Frayling, B. Shields, M. Weedon, 2009, Diabetes.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

S. Ellard, H. Lango Allen, K. Stals, 2014, European Journal of Human Genetics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Predicting the Occurrence of Variants in RAG1 and RAG2

J. Fellay, J. Walter, H. Lango Allen, 2019, Journal of Clinical Immunology.

GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health

N. Wareham, K. Ong, C. Langenberg, 2021, Nature Communications.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Sri V. V. Deevi, Kenneth G. C. Smith, K. Stirrups, 2018, The Journal of allergy and clinical immunology.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

A. Hattersley, S. Ellard, H. Lango Allen, 2017, Diabetes.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Richard Caswell, Sian Ellard, Peter D Turnpenny, 2014, Journal of Medical Genetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

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 Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

C. Lelliott, A. Hattersley, R. Siebert, 2019, American journal of human genetics.

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

H. Lango Allen, T. Kuijpers, G. D. de Bree, 2019, Clinical immunology.

A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells

L. Harries, H. Lango Allen, J. Locke, 2013, Acta Diabetologica.