Author details

Full Name

Helen V Firth

Affiliation

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

ORCID

Career Start Year

1990

Papers

136

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36341503	Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).	Neuropathol Appl Neurobiol	2023
37808847	Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.	medRxiv	2023
37586323	Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.	Cell Rep Med	2023
38057330	Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.	Nat Commun	2023
37285546	DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.	Annu Rev Genomics Hum Genet	2023
37066232	Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.	medRxiv	2023
37426450	Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.	ArXiv	2023
36441169	Importance of adopting standardized MANE transcripts in clinical reporting.	Genet Med	2023
35143074	DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.	Hum Mutat	2022
35507016	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.	Genet Med	2022
35577938	Recommendations for whole genome sequencing in diagnostics for rare diseases.	Eur J Hum Genet	2022
35469323	Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.	HGG Adv	2022
36583168	Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.	HGG Adv	2022
36561149	IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.	HGG Adv	2022
35904126	De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.	Hum Mutat	2022
36167847	Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.	Nat Commun	2022
33149276	Evaluating variants classified as pathogenic in ClinVar in the DDD Study.	Genet Med	2021
33603196	Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.	Genet Med	2021
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
34626536	Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.	Am J Hum Genet	2021
34418133	Infantile-onset osteoma cutis with pseudopseudohypoparathyroidism.	Clin Exp Dermatol	2021
34478655	Response to Biesecker etÂ al.	Am J Hum Genet	2021
34211179	Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.	Nat Genet	2021
34110109	Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.	Mol Genet Genomic Med	2021
34022131	Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.	Am J Hum Genet	2021
32317787	A framework for an evidence-based gene list relevant to autism spectrum disorder.	Nat Rev Genet	2020
32728138	Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.	Genet Med	2020
32640035	Primary pneumococcal peritonitis can be the first presentation of a familial complement factor I deficiency<sup>1</sup>.	Clin Exp Immunol	2020
32421356	Genomically Aided Diagnosis of Severe Developmental Disorders.	Annu Rev Genomics Hum Genet	2020
32353633	ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.	Clin Immunol	2020
30356099	The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.	Genet Med	2019
31886409	Genomic variant sharing: a position statement.	Wellcome Open Res	2019
31303265	De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.	Am J Hum Genet	2019
31182824	Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.	Genet Med	2019
31209336	A cellular census of human lungs identifies novel cell states in health and in asthma.	Nat Med	2019
31604926	Contribution of retrotransposition to developmental disorders.	Nat Commun	2019
31227601	Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.	Genome Res	2019
31308101	Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.	Clin Med (Lond)	2019
31278258	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.	Nat Commun	2019
31125547	Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause RareÂ Sweat Duct Proliferations and Irregular ElastinÂ Aggregations.	J Invest Dermatol	2019
31147538	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.	Nat Commun	2019
30962250	Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.	J Med Genet	2019
30783266	Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.	Genet Med	2019
29021403	Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability.	J Med Genet	2018
30069064	Registered access: authorizing data access.	Eur J Hum Genet	2018
30258228	Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.	Nature	2018
30409806	Quantifying the contribution of recessive coding variation to developmental disorders.	Science	2018
29562236	De novo mutations in regulatory elements in neurodevelopmental disorders.	Nature	2018
29456250	Paediatric genomics: diagnosing rare disease in children.	Nat Rev Genet	2018
29398702	Paediatric genomics: diagnosing rare disease in children.	Nat Rev Genet	2018

1 - 50 of 136

Hui-Lin Chin

Yong Loo Lin School of Medicine, National University of Singapore

Career Start Year 2015

Number of shared co-authors 8

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 30

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 29

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 17

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 62

Shagun Aggarwal

Nizam's Institute of Medical Sciences

Career Start Year 2010

Number of shared co-authors 9

Daniel E Pineda-Alvarez

Invitae Corporation

Career Start Year 2009

Number of shared co-authors 8

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 39

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 65

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Career Start Year 2007

Number of shared co-authors 25

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 1

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 14

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 21

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 67

Isabel Filges

University Hospital Basel and University of Basel

Career Start Year 2002

Number of shared co-authors 13

Heidi Cope

GenOmics and Translational Research Center

Career Start Year 2002

Number of shared co-authors 14

Caroline Astbury

Pathology and Laboratory Medicine Institute, Cleveland Clinic

Career Start Year 2001

Number of shared co-authors 8

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 25

Christ??le du Souich

University of British Columbia

Career Start Year 1998

Number of shared co-authors 10

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 31

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 40

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 20

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 20

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 37

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 47

Felicity Collins

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

Career Start Year 1990

Number of shared co-authors 17

Kathleen A Leppig

Kaiser Permanente Washington

Career Start Year 1987

Number of shared co-authors 46

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 21

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 79

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 44

row(s) 1 - 30 of 30

Caroline F Wright

University of Exeter, Royal Devon and Exeter Hospital

Co-authored papers 33

Matthew E Hurles

Wellcome Sanger Institute

Co-authored papers 31

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Co-authored papers 28

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Co-authored papers 9

Jeffrey C Barrett

Co-authored papers 9

Anna Middleton

Kavli Centre for Ethics, University of Cambridge

Co-authored papers 8

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 7

Ganesh J Swaminathan

European Bioinformatics Institute (EMBL-EBI)

Co-authored papers 7

Heidi L Rehm

The Broad Institute of MIT and Harvard

Co-authored papers 7

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Co-authored papers 7

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 6

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 6

Nigel P Carter

4Wellcome Trust Sanger Institute

Co-authored papers 6

Bert B A de Vries

Radboud University Medical Center

Co-authored papers 6

Christa Lese Martin

Autism and Developmental Medicine Institute

Co-authored papers 6

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 6

Michael Brudno

University of Toronto

Co-authored papers 6

Fiona Cunningham

European Bioinformatics Institute

Co-authored papers 6

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 5

Daniel Perrett

European Bioinformatics Institute

Co-authored papers 5

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Co-authored papers 5

Melissa A Haendel

Co-authored papers 5

Sarju G Mehta

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 5