Publications by authors named "Anna De Burca"

Claim this Profile
P
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones, Anna de Burca

Nat Genet· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones, Anna de Burca

Nat Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.
Megan Horton-Bell, Sue Hamilton, Rebecca Keelagher, Stephanie Allen, Anna De Burca

Prenat Diagn· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Anna de Burca

Am J Hum Genet· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Yanick J Crow, Heather Marshall, Gillian I Rice, Luis Seabra, Emma M Jenkinson, Anna de Burca

Am J Med Genet A· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A clinical scoring system for congenital contractural arachnodactyly.
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Anna de Burca

Genet Med· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Antonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, Sarah Leigh, Louise C Daugherty, Anna de Burca

Nat Genet· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, Emma Burkitt-Wright, Hilary C Martin, Anna de Burca

Clin Genet· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intrafamilial variability of clinical features in distal arthrogryposis type 2B.
Anna de Burca, Christos Ioannou, Anthony Vandersteen, Francis M Pope, Deirdre D Cilliers

Clin Dysmorphol· January 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline A C Goos, Melissa M Lees, Anna de Burca

Am J Hum Genet· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Anna De Burca

Eur J Med Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Short interspersed element (SINE) depletion and long interspersed element (LINE) abundance are not features universally required for imprinting.
Michael Cowley, Anna de Burca, Ruth B McCole, Mandeep Chahal, Ghazal Saadat

PLoS One· April 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis