Hana Lango Allen
occupation: researcher
Articles 54
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Thousands of missing variants in the UK Biobank are recoverable by genome realignment
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Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort
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Whole-genome sequencing of patients with rare diseases in a national health system
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Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
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Copy number variation of in familial dystonic tremor
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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
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Predicting the Occurrence of Variants in RAG1 and RAG2
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Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
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Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.
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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
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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.
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Characterising RAG1 and RAG2 with predictive genomics
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Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences
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GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies
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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
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Genetic evidence of assortative mating in humans
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SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
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An exome sequencing strategy to diagnose lethal autosomal recessive disorders
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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
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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.
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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
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GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Human - wd:Q37631813