Author details

Full Name

Anna de Burca

Affiliation

Oxford University Hospitals NHS Foundation Trust

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36217303	Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.	Prenat Diagn	2022
33029936	Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.	Am J Med Genet A	2021
33909992	Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.	Am J Hum Genet	2021
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
31316167	A clinical scoring system for congenital contractural arachnodactyly.	Genet Med	2020
30859559	Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.	Clin Genet	2019
31676867	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.	Nat Genet	2019
30216196	Intrafamilial variability of clinical features in distal arthrogryposis type 2B.	Clin Dysmorphol	2019
29861108	De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.	Am J Hum Genet	2018
27915094	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.	Eur J Med Genet	2017
21533089	Short interspersed element (SINE) depletion and long interspersed element (LINE) abundance are not features universally required for imprinting.	PLoS One	2011

1 - 11 of 11

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 10

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 15

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 7

Morad Ansari

Western General Hospital

Career Start Year 2010

Number of shared co-authors 21

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 13

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 15

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 11

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 8

Malte Spielmann

Max Planck Institute for Molecular Genetics

Career Start Year 2005

Number of shared co-authors 7

Kati J Buckingham

University of Washington

Career Start Year 2005

Number of shared co-authors 4

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 4

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 15

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 26

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 48

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 20

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 8

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 11

Andreas Zankl

The University of Sydney

Career Start Year 1997

Number of shared co-authors 23

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 29

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 17

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 16

H??lya Kayserili

Istanbul University

Career Start Year 1996

Number of shared co-authors 28

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 16

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 13

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 56

Michael J Bamshad

University of Washington

Career Start Year 1989

Number of shared co-authors 14

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 17

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 16

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Career Start Year 1986

Number of shared co-authors 18

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 3

row(s) 1 - 30 of 30

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 4

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 3

Antonio Rueda Martin

Queen Mary University of London

Co-authored papers 2

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Co-authored papers 2

Jenny C Taylor

University of Oxford

Co-authored papers 2

Rebecca E Foulger

Queen Mary University of London

Co-authored papers 2

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Co-authored papers 2

Sofia Douzgou

Haukeland University Hospital

Co-authored papers 2

Raymond T O'Keefe

University of Manchester

Co-authored papers 2

David J Burn

Population Health Sciences Institute, Newcastle University

Co-authored papers 2

John Taylor

Oxford University Hospitals NHS Foundation Trust, Churchill Hospital

Co-authored papers 2

Maria Bitner-Glindzicz

UCL Great Ormond Street Institute of Child Health Library

Co-authored papers 2

Helen Brittain

Queen Mary University of London

Co-authored papers 2

Ellen M McDonagh

European Bioinformatics Institute (EMBL-EBI)

Co-authored papers 2

Dalia Kasperaviciute

Genomics England Ltd.

Co-authored papers 2

Nils Koelling

Nuffield Division of Clinical Laboratory Sciences, University of Oxford

Co-authored papers 2

Ivone U S Leong

Queen Mary University of London

Co-authored papers 2

Louise C Daugherty

Queen Mary University of London, United Kingdom Healx Ltd

Co-authored papers 2

Kristina Iba??ez

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Mark J Caulfield

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Sarju G Mehta

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 2

Augusto Rendon

Genomics England Ltd

Co-authored papers 2

Charu Deshpande

Guy's Hospital

Co-authored papers 2

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Co-authored papers 2

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Dragana Josifova

Guy's and St Thomas' Hospital

Co-authored papers 1

Douglass M Turnbull

Newcastle University

Co-authored papers 1

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Christopher Boustred

Co-authored papers 1

Bishoy Habib

Co-authored papers 1

1 - 30

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