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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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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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Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Genome medicine, 2022-07, Vol.14 (1), p.77-77, Article 77

2022

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Clinical findings and structural analysis involving a patient with a novel KLHL15 variant

European journal of medical genetics, 2023-06, Vol.66 (6), p.104768-104768, Article 104768

2023

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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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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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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

Human molecular genetics, 2019-11, Vol.28 (21), p.3543-3551

2019

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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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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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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Metabolism, clinical and experimental, 2017-06, Vol.71, p.213-225

2017

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Journal of medical genetics, 2014-03, Vol.51 (3), p.165-169

2014

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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, 2024-07, Vol.32 (7), p.813-818

2024

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Primate-specific ZNF808 is essential for pancreatic development in humans

Nature genetics, 2023-12, Vol.55 (12), p.2075-2081

2023

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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1950-1955

2018

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Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Journal of human genetics, 2020-06, Vol.65 (6), p.531-539

2020

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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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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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Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

American journal of human genetics, 2013-01, Vol.92 (1), p.131-136

2013

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Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

Diabetes care, 2009, Vol.32 (1), p.111-116

2009

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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Journal of medical genetics, 2018-01, Vol.55 (1), p.28

2018

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

HGG advances, 2021-01, Vol.2 (1), p.100015-100015, Article 100015

2021

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A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue-applications for studies of mitochondrial genetics in brain disorders

BioTechniques, 2015-10, Vol.59 (4), p.241-246

2015

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

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

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

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Clinical findings and structural analysis involving a patient with a novel KLHL15 variant

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

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

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

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

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

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

Primate-specific ZNF808 is essential for pancreatic development in humans

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

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

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue-applications for studies of mitochondrial genetics in brain disorders

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