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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

American journal of human genetics, 2019-02, Vol.104 (2), p.275-286

2019

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

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

2022

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Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Nature communications, 2017-10, Vol.8 (1), p.888-8, Article 888

2017

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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

PloS one, 2020-02, Vol.15 (2), p.e0228417-e0228417

2020

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Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

Clinical chemistry (Baltimore, Md.), 2020-07, Vol.66 (7), p.958-965

2020

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Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Scientific reports, 2016-02, Vol.6 (1), p.21746-21746, Article 21746

2016

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The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

Diabetes (New York, N.Y.), 2016-10, Vol.65 (10), p.3212-3217

2016

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Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

The journal of pathology. Clinical research, 2020-01, Vol.6 (1), p.12-16

2020

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Misannotation of multiple-nucleotide variants risks misdiagnosis

Wellcome open research, 2020-01, Vol.4, p.145-145

2020

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Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

The journal of clinical endocrinology and metabolism, 2023-03, Vol.108 (3), p.680-687

2023

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Diabetes (New York, N.Y.), 2022-05, Vol.71 (5), p.1128-1136

2022

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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

American journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028

2022

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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants

Human mutation, 2023-12, Vol.2023, p.1-6

2023

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PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2318-e2323

2022

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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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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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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

European journal of endocrinology, 2021-12, Vol.185 (6), p.813

2021

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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Wellcome open research, 2019, Vol.4, p.149-149

2019

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Analysis of large‐scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia

Human mutation, 2017-10, Vol.38 (10), p.1442-1444

2017

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PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

The journal of clinical endocrinology and metabolism, 2018-09, Vol.103 (9), p.3225-3230

2018

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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

European journal of human genetics : EJHG, 2024-04

2024

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The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Diabetes (New York, N.Y.), 2018-09, Vol.67 (9), p.1903-1907

2018

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

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

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

Misannotation of multiple-nucleotide variants risks misdiagnosis

Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

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

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Analysis of large‐scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

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