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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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Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Diabetes (New York, N.Y.), 2016-07, Vol.65 (7), p.2094-2099

2016

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De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Diabetes (New York, N.Y.), 2020-03, Vol.69 (3), p.477-483

2020

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SavvyCNV: Genome-wide CNV calling from off-target reads

PLoS computational biology, 2022-03, Vol.18 (3), p.e1009940

2022

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Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt

Annals of Pediatric Endocrinology & Metabolism, 2022, 27(3), , pp.214-222

2022

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Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

Journal of clinical research in pediatric endocrinology, 2021-03, Vol.13 (1), p.80-87

2021

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MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

Journal of diabetes investigation, 2023-04, Vol.14 (4), p.516-521

2023

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Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

Journal of clinical research in pediatric endocrinology, 2017-09, Vol.9 (3), p.274-277

2017

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6410 Investigating possible genotype-phenotype relationship in patients with neonatal diabetes caused by mutations in GATA6 and PDX1

Archives of disease in childhood, 2024-08, Vol.109 (Suppl 1), p.A227-A228

2024

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Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence

Frontiers in endocrinology (Lausanne), 2021-04, Vol.12, p.650158-650158

2021

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Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Journal of clinical research in pediatric endocrinology, 2018-06, Vol.10 (2), p.168-174

2018

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Rolê no IF: um aplicativo em favor da inclusão e contra a evasão no Ensino Médio Integrado

Revista de Estudos e Pesquisas sobre Ensino Tecnológico, 2019-12, Vol.5 (12)

2019

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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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An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

Journal of clinical research in pediatric endocrinology, 2017-09, Vol.9 (3), p.260-264

2017

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Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Diabetes (New York, N.Y.), 2017-07, Vol.66 (7), p.2044-2053

2017

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

The Journal of clinical investigation, 2020-12, Vol.130 (12), p.6338-6353

2020

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Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

The Journal of clinical investigation, 2023-03, Vol.133 (6)

2023

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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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The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Diabetes (New York, N.Y.), 2023-11, Vol.72 (11), p.1729-1734

2023

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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Diabetes (New York, N.Y.), 2013-03, Vol.62 (3), p.993-997

2013

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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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Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

Diabetologia, 2020-12, Vol.63 (12), p.2605-2615

2020

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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 type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

Diabetologia, 2018-04, Vol.61 (4), p.862-869

2018

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

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

SavvyCNV: Genome-wide CNV calling from off-target reads

Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

6410 Investigating possible genotype-phenotype relationship in patients with neonatal diabetes caused by mutations in GATA6 and PDX1

Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Rolê no IF: um aplicativo em favor da inclusão e contra a evasão no Ensino Médio Integrado

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

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

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

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

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

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

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