Angela J. Barnicoat

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 24 publications

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation
Published: May 25, 2024

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Journal: Journal of the Endocrine Society
Published: September 06, 2022

Highlighting the Dystonic Phenotype Related to GNAO1.

Highlighting the Dystonic Phenotype Related to GNAO1.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 17, 2022

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Journal: American journal of medical genetics. Part A
Published: January 06, 2022

Genetic and chemotherapeutic influences on germline hypermutation.

Genetic and chemotherapeutic influences on germline hypermutation.

Journal: Nature
Published: June 01, 2021

A practical approach to the genomics of kidney disorders.

A practical approach to the genomics of kidney disorders.

Journal: Pediatric nephrology (Berlin, Germany)
Published: December 04, 2020

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

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

Journal: HGG advances
Published: September 18, 2020

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

Journal: American journal of medical genetics. Part A
Published: July 08, 2020

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Journal: Human mutation
Published: August 23, 2019

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 21, 2019

A clinical scoring system for congenital contractural arachnodactyly.

A clinical scoring system for congenital contractural arachnodactyly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2019

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Journal: Nature genetics
Published: May 27, 2017
Showing 1-12 of 24

Last Updated: 09/26/2026