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Author Details

Matthew E Hurles
Wellcome Sanger Institute
1998
212
87
PMIDPaper TitleJournal TitlePublished Year
36684426Differentiation of human induced pluripotent stem cells into cortical neural stem cells.Front Cell Dev Biol2023
38057330Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.Nat Commun2023
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37394429An Atlas of Variant Effects to understand the genome at nucleotide resolution.Genome Biol2023
37437211Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Brain2023
37301943Rare genetic variants impact muscle strength.Nat Commun2023
36684426Differentiation of human induced pluripotent stem cells into cortical neural stem cells.Front Cell Dev Biol2023
38057330Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.Nat Commun2023
37394429An Atlas of Variant Effects to understand the genome at nucleotide resolution.Genome Biol2023
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37437211Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Brain2023
37301943Rare genetic variants impact muscle strength.Nat Commun2023
34411415Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?BJOG2022
35394427Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genet Med2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
36459978A minimal role for synonymous variation in human disease.Am J Hum Genet2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
35322230Reduced reproductive success is associated with selective constraint on human genes.Nature2022
34411415Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?BJOG2022
35394427Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genet Med2022
36459978A minimal role for synonymous variation in human disease.Am J Hum Genet2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
35322230Reduced reproductive success is associated with selective constraint on human genes.Nature2022
32820247Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genet Med2021
33847422Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound Obstet Gynecol2021
33550297The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.Fetal Diagn Ther2021
34022131Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Am J Hum Genet2021
32820247Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genet Med2021
33149276Evaluating variants classified as pathogenic in ClinVar in the DDD Study.Genet Med2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
34547032Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.PLoS Genet2021
33847422Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound Obstet Gynecol2021
33550297The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.Fetal Diagn Ther2021
34547032Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.PLoS Genet2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
34022131Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Am J Hum Genet2021
33149276Evaluating variants classified as pathogenic in ClinVar in the DDD Study.Genet Med2021
32531199Population Structure, Stratification, and Introgression of Human Structural Variation.Cell2020
31962312Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.Fetal Diagn Ther2020
31915397A brief history of human disease genetics.Nature2020
32764605Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders.Nat Commun2020
32531199Population Structure, Stratification, and Introgression of Human Structural Variation.Cell2020
31962312Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.Fetal Diagn Ther2020
31915397A brief history of human disease genetics.Nature2020
32764605Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders.Nat Commun2020
30293990Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.Genet Med2019
31604926Contribution of retrotransposition to developmental disorders.Nat Commun2019
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Collaborators

Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 31
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 24
Chris Tyler-Smith
Wellcome Sanger Institute
Co-authored papers 23
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 21
Nigel P Carter
4Wellcome Trust Sanger Institute
Co-authored papers 21
Donald F Conrad
Co-authored papers 16
Ni Huang
Washington University School of Medicine
Co-authored papers 14
Jeffrey C Barrett
Co-authored papers 13
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 13
Emmanouil T Dermitzakis
University of Geneva
Co-authored papers 9
Dominic J McMullan
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 9
Richard Durbin
University of Cambridge
Co-authored papers 8
Detelina Grozeva
Co-authored papers 8
Ganesh J Swaminathan
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 8
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 8
Klaudia Walter
Wellcome Sanger Institute
Co-authored papers 7
James R Lupski
Baylor College of Medicine
Co-authored papers 7
Andrew P Jackson
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 7
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 6
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 6
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 6
George Kirov
Co-authored papers 6
Stephanie O M Dyke
Montreal Neurological Institute, McGill University
Co-authored papers 6
Aarno Palotie
Co-authored papers 6
Evan E Eichler
University of Washington
Co-authored papers 6
Anna Middleton
Kavli Centre for Ethics, University of Cambridge
Co-authored papers 6
Mark Gerstein
Yale University
Co-authored papers 5
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 5
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 5
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