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

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963

2015

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

Immunity (Cambridge, Mass.), 2020-08, Vol.53 (2), p.353-370.e8

2020

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

Nature genetics, 2014-08, Vol.46 (8), p.812-814

2014

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

Nature communications, 2021-07, Vol.12 (1), p.4178-4178, Article 4178

2021

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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Diabetes (New York, N.Y.), 2017-08, Vol.66 (8), p.2316-2322

2017

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

Annals of human genetics, 2020-05, Vol.84 (3), p.214-220

2020

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

Diabetes (New York, N.Y.), 2014-08, Vol.63 (8), p.2888-2894

2014

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

Cell metabolism, 2014-01, Vol.19 (1), p.146-154

2014

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

American journal of human genetics, 2019-05, Vol.104 (5), p.985-989

2019

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

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1744-1748

2015

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GATA6 haploinsufficiency causes pancreatic agenesis in humans

Nature genetics, 2012-01, Vol.44 (1), p.20-22

2012

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

Journal of allergy and clinical immunology, 2018-10, Vol.142 (4), p.1285-1296

2018

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

Diabetes (New York, N.Y.), 2010-01, Vol.59 (1), p.266-271

2010

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Nature genetics, 2014-01, Vol.46 (1), p.61-64

2014

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.401-404

2015

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

Nature genetics, 2013-08, Vol.45 (8), p.947-950

2013

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

Genetics in medicine, 2022-09, Vol.24 (9), p.1909-1919

2022

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

Clinical endocrinology (Oxford), 2016-05, Vol.84 (5), p.715-719

2016

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders

European journal of human genetics : EJHG, 2014-06, Vol.23 (3), p.401-404

2014

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Practical challenges for functional validation of STAT1 gain of function genetic variants

Clinical and experimental immunology, 2023-04, Vol.212 (2), p.166-169

2023

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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

Journal of medical genetics, 2014-04, Vol.51 (4), p.264-267

2014

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

Acta diabetologica, 2014-04, Vol.51 (2), p.325-329

2014

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

Clinical immunology (Orlando, Fla.), 2019-06, Vol.203, p.23-27

2019

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

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

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

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

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

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

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

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

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

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

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

GATA6 haploinsufficiency causes pancreatic agenesis in humans

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

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

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

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

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

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

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

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Practical challenges for functional validation of STAT1 gain of function genetic variants

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

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

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

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