Anna De Burca

Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: October 03, 2024

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.

Journal: Prenatal diagnosis

Published: September 29, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Journal: American journal of human genetics

Published: December 20, 2020

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: July 15, 2020

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Journal: Nature genetics

Published: November 03, 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

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Journal: Clinical genetics

Published: November 28, 2018

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

Journal: Clinical dysmorphology

Published: September 15, 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: February 14, 2018

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Journal: European journal of medical genetics

Published: August 15, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026