Author details

Full Name

Kate Gibson

Affiliation

Clinical Geneticist, Genetic Health Service

ORCID

Career Start Year

1996

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35879406	Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome.	Eur J Hum Genet	2022
35442418	A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.	J Exp Med	2022
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
30478443	Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.	Nat Genet	2019
31530938	Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.	J Hum Genet	2019
30345660	Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.	Mol Genet Genomic Med	2019
29215649	A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.	Genet Med	2018
27857240	Detection of sudden death syndromes in New Zealand.	N Z Med J	2016
27667800	Clinical and genetic aspects of KBG syndrome.	Am J Med Genet A	2016
24726473	Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.	Am J Hum Genet	2014
24127277	Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.	Am J Med Genet C Semin Med Genet	2013
22965914	A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.	Am J Med Genet A	2012
21910217	X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.	Am J Med Genet A	2011
19809484	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.	Eur J Hum Genet	2010
18854871	Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.	Eur J Hum Genet	2009
19471311	Novel SOX2 partner-factor domain mutation in a four-generation family.	Eur J Hum Genet	2009
19225462	A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.	Eur J Hum Genet	2009
18977979	Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.	Pediatrics	2008
17143282	Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.	Nat Genet	2007
16138250	The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.	Neuropediatrics	2005
15108197	Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.	Am J Med Genet A	2004
12071447	Complications of biliary T-tubes after choledochotomy.	ANZ J Surg	2002
12495091	Prenatal diagnosis of mosaic trisomy 20 in New Zealand.	Aust N Z J Obstet Gynaecol	2002
10164397	Experience of coding ambulatory visits to outpatient clinics.	Health Inf Manag	1996

1 - 24 of 24

Shagun Aggarwal

Nizam's Institute of Medical Sciences

Career Start Year 2010

Number of shared co-authors 4

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 11

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 5

Gareth Baynam

King Edward Memorial Hospital

Career Start Year 2006

Number of shared co-authors 32

Tawfeg Ben-Omran

Hamad Medical Corporation.

Career Start Year 2005

Number of shared co-authors 15

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Career Start Year 2002

Number of shared co-authors 44

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 25

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 12

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 20

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 37

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 18

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 36

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 25

Theresa A Grebe

Phoenix Children's Hospital

Career Start Year 1992

Number of shared co-authors 7

Ada Hamosh

Johns Hopkins University School of Medicine

Career Start Year 1991

Number of shared co-authors 38

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 16

Nicola K Poplawski

Royal Adelaide Hospital

Career Start Year 1990

Number of shared co-authors 4

Annette Feigenbaum

Rady Children's Hospital and The University of California

Career Start Year 1990

Number of shared co-authors 10

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 61

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 38

Dina J Zand

Center for Drug Evaluation and Research

Career Start Year 1989

Number of shared co-authors 3

Patrick J Morrison

Belfast City Hospital

Career Start Year 1989

Number of shared co-authors 24

Petter Str??mme

University of Oslo

Career Start Year 1987

Number of shared co-authors 10

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 23

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 17

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 7

Susan Schelley

Stanford University

Career Start Year 1982

Number of shared co-authors 9

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 10

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 23

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 30

row(s) 1 - 30 of 30

Timothy C Cox

University of Missouri-Kansas City Kansas City

Co-authored papers 2

Tony Roscioli

Prince of Wales Hospital

Co-authored papers 2

David R Thorburn

Co-authored papers 2

Frances Flinter

Guys' and St Thomas' NHS Foundation Trust

Co-authored papers 2

Trang Le

KTH - Royal Institute of Technology

Co-authored papers 2

Marco Tartaglia

Co-authored papers 2

Melita Irving

Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital

Co-authored papers 2

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 2

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Co-authored papers 2

Richard H Scott

Great Ormond Street Hospital

Co-authored papers 2

Denise M Kirby

Co-authored papers 2

Martin Zenker

Co-authored papers 2

Dominic J McMullan

Birmingham Women's and Children's NHS Foundation Trust

Co-authored papers 2

Charu Deshpande

Guy's Hospital

Co-authored papers 2

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 1

Zornitza Stark

Murdoch Children's Research Institute

Co-authored papers 1

Rutendo Mapeta

Cambridge University Hospitals NHS Foundation

Co-authored papers 1

Matthew Welland

Co-authored papers 1

Maureen Cleary

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 1

Stephanie Grunewald

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 1

Francesco Muntoni

UCL Great Ormond Street Institute of Child Health

Co-authored papers 1

Antonio Rueda Martin

Queen Mary University of London

Co-authored papers 1

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

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

Anna de Burca

Oxford University Hospitals NHS Foundation Trust

Co-authored papers 1

Clare V Logan

Co-authored papers 1

1 - 30

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