Author details

Full Name

Philip Twiss

Affiliation

Cambridge University Hospitals NHS Foundation Trust

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36411030	Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>.	J Med Genet	2023
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
30890023	Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel <i>NIPBL</i> Pathogenic Variant.	Pediatr Dev Pathol	2019
25708280	Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.	Prenat Diagn	2015
24210903	Non-invasive prenatal testing for Down syndrome.	Semin Fetal Neonatal Med	2014
20949628	Evaluation of germline BMP4 mutation as a cause of colorectal cancer.	Hum Mutat	2011
20123861	Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.	Hum Mol Genet	2010
20862326	Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.	PLoS Genet	2010
19569232	The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.	Int J Cancer	2009
19395656	The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.	Genome Res	2009
18753146	Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.	Hum Mol Genet	2008

1 - 11 of 11

Jessica Giordano

Columbia University Irving Medical Center

Career Start Year 2015

Number of shared co-authors 7

Casie A Genetti

Boston Children's Hospital

Career Start Year 2015

Number of shared co-authors 7

Monica H Wojcik

Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 11

Kandamurugu Manickam

Nationwide Children's Hospital, The Ohio State University College of Medicine

Career Start Year 2010

Number of shared co-authors 2

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 23

Nicholas Pachter

King Edward Memorial Hospital

Career Start Year 2009

Number of shared co-authors 4

Emily G Spencer

Scripps Research Translational Institute

Career Start Year 2009

Number of shared co-authors 2

Gareth Baynam

King Edward Memorial Hospital

Career Start Year 2006

Number of shared co-authors 23

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 1

Eden Haverfield

Invitae Corporation

Career Start Year 2005

Number of shared co-authors 2

Isabel Filges

University Hospital Basel and University of Basel

Career Start Year 2002

Number of shared co-authors 3

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 18

Zornitza Stark

Murdoch Children's Research Institute

Career Start Year 2001

Number of shared co-authors 29

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 13

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 8

Jean Gekas

Laval University

Career Start Year 1997

Number of shared co-authors 0

Matthew J Ferber

Mayo Clinic

Career Start Year 1997

Number of shared co-authors 1

Tom Walsh

University of Washington

Career Start Year 1996

Number of shared co-authors 3

Nicole de Leeuw

Radboud University Medical Center

Career Start Year 1996

Number of shared co-authors 19

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 22

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 6

Nicola K Poplawski

Royal Adelaide Hospital

Career Start Year 1990

Number of shared co-authors 3

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 50

Lawrence C Brody

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1988

Number of shared co-authors 2

Kathleen A Leppig

Kaiser Permanente Washington

Career Start Year 1987

Number of shared co-authors 7

Sylvie Langlois

Research Center, Centre Hospitalier Universitaire Sainte-Justine

Career Start Year 1987

Number of shared co-authors 5

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 9

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 11

Fran??ois Rousseau

Universite Laval

Career Start Year 1986

Number of shared co-authors 1

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 3

row(s) 1 - 30 of 30

Lyn S Chitty

UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust

Co-authored papers 3

Sarju G Mehta

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 2

Jenny C Taylor

University of Oxford

Co-authored papers 2

Yussanne Ma

Co-authored papers 2

Christopher J Penkett

National Health Service Blood and Transplant, University of Cambridge

Co-authored papers 1

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Co-authored papers 1

Jing Yu

University of Oxford

Co-authored papers 1

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Co-authored papers 1

Nigel Burrows

Addenbrooke's Hospital

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Rita Horvath

School of Clinical Medicine, University of Cambridge

Co-authored papers 1

Janice Yip

Co-authored papers 1

Eleanor Dewhurst

University of Cambridge

Co-authored papers 1

Philip L Beales

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

Co-authored papers 1