M E Hurles

Affiliations

Wellcome Sanger Institute, Hinxton, UK.

Publications (52)

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elizabeth Quinlan-Jones , Jenny Lord , Denise Williams , Sue Hamilton , Tamas Marton , Ruth Y Eberhardt , Gabriele Rinck , Elena Prigmore , Rebecca Keelagher , Dominic J McMullan , Eamonn R Maher , Matthew E Hurles , Mark D Kilby

Reduced reproductive success is associated with selective constraint on human genes.

Nature

Avec: Eugene J Gardner , Matthew D C Neville , Kaitlin E Samocha , Kieron Barclay , Martin Kolk , Mari E K Niemi , George Kirov , Hilary C Martin , Matthew E Hurles

Genetic correlates of phenotypic heterogeneity in autism.

Nature genetics

Avec: Varun Warrier , Xinhe Zhang , Patrick Reed , Alexandra Havdahl , Tyler M Moore , Freddy Cliquet , Claire S Leblond , Thomas Rolland , Anders Rosengren , Auteur inconnu , Auteur inconnu , Auteur inconnu , David H Rowitch , Matthew E Hurles , Daniel H Geschwind , Anders D Børglum , Elise B Robinson , Jakob Grove , Hilary C Martin , Thomas Bourgeron , Simon Baron-Cohen

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

The Journal of clinical endocrinology and metabolism

Avec: Katie Duckett , Alice Williamson , John W R Kincaid , Kara Rainbow , Laura J Corbin , Hilary C Martin , Ruth Y Eberhardt , Qin Qin Huang , Matthew E Hurles , Wen He , Raja Brauner , Angela Delaney , Leo Dunkel , Romina P Grinspon , Janet E Hall , Joel N Hirschhorn , Sasha R Howard , Ana C Latronico , Alexander A L Jorge , Ken McElreavey , Verónica Mericq , Paulina M Merino , Mark R Palmert , Lacey Plummer , Rodolfo A Rey , Raíssa C Rezende , Stephanie B Seminara , Kathryn Salnikov , Indraneel Banerjee , Brian Y H Lam , John R B Perry , Nicholas J Timpson , Peter Clayton , Yee-Ming Chan , Ken K Ong , Stephen O'Rahilly

A brief history of human disease genetics.

Nature

Avec: Melina Claussnitzer , Judy H Cho , Rory Collins , Nancy J Cox , Emmanouil T Dermitzakis , Matthew E Hurles , Sekar Kathiresan , Eimear E Kenny , Cecilia M Lindgren , Daniel G MacArthur , Kathryn N North , Sharon E Plon , Heidi L Rehm , Neil Risch , Charles N Rotimi , Jay Shendure , Nicole Soranzo , Mark I McCarthy

Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring.

Communications biology

Avec: Marc A Beal , Matthew J Meier , Andrew Williams , Andrea Rowan-Carroll , Rémi Gagné , Sarah J Lindsay , Tomas Fitzgerald , Matthew E Hurles , Francesco Marchetti , Carole L Yauk

Contribution of retrotransposition to developmental disorders.

Nature communications

Avec: Eugene J Gardner , Elena Prigmore , Giuseppe Gallone , Petr Danecek , Kaitlin E Samocha , Juliet Handsaker , Sebastian S Gerety , Holly Ironfield , Patrick J Short , Alejandro Sifrim , Tarjinder Singh , Kate E Chandler , Emma Clement , Katherine L Lachlan , Katrina Prescott , Elisabeth Rosser , David R FitzPatrick , Helen V Firth , Matthew E Hurles

The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.

Fetal diagnosis and therapy

Avec: Fionnuala Mone , Bethany K Stott , Susan Hamilton , Anna N Seale , Elizabeth Quinlan-Jones , Stephanie Allen , Matthew E Hurles , Dominic J McMullan , Eamonn R Maher , Mark D Kilby

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.

Human mutation

Avec: Julia Foreman , Simon Brent , Daniel Perrett , Andrew P Bevan , Sarah E Hunt , Fiona Cunningham , Matthew E Hurles , Helen V Firth

A cross-disorder dosage sensitivity map of the human genome.

Cell

Avec: Ryan L Collins , Joseph T Glessner , Eleonora Porcu , Maarja Lepamets , Rhonda Brandon , Christopher Lauricella , Lide Han , Theodore Morley , Lisa-Marie Niestroj , Jacob Ulirsch , Selin Everett , Daniel P Howrigan , Philip M Boone , Jack Fu , Konrad J Karczewski , Georgios Kellaris , Chelsea Lowther , Diane Lucente , Kiana Mohajeri , Margit Nõukas , Xander Nuttle , Kaitlin E Samocha , Mi Trinh , Farid Ullah , Urmo Võsa , Auteur inconnu , Auteur inconnu , Matthew E Hurles , Swaroop Aradhya , Erica E Davis , Hilary Finucane , James F Gusella , Aura Janze , Nicholas Katsanis , Ludmila Matyakhina , Benjamin M Neale , David Sanders , Stephanie Warren , Jennelle C Hodge , Dennis Lal , Douglas M Ruderfer , Jeanne Meck , Reedik Mägi , Tõnu Esko , Alexandre Reymond , Zoltán Kutalik , Hakon Hakonarson , Shamil Sunyaev , Harrison Brand , Michael E Talkowski

Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review.

Critical reviews in clinical laboratory sciences

Avec: Jordan Canning , Rona J Strawbridge , Zosia Miedzybrodzka , Riccardo E Marioni , Mads Melbye , David J Porteous , Matthew E Hurles , Naveed Sattar , Cathie L M Sudlow , Rory Collins , Sandosh Padmanabhan , Jill P Pell

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.

Scientific reports

Avec: Emilie M Wigdor , Kaitlin E Samocha , Ruth Y Eberhardt , V Kartik Chundru , Helen V Firth , Caroline F Wright , Matthew E Hurles , Hilary C Martin

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature

Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Alicia Ljungdahl , Sarah L Stenton , Susan Walker , Jenny Lord , Gabrielle Lemire , Alexandra C Martin-Geary , Vijay S Ganesh , Jialan Ma , Jamie M Ellingford , Erwan Delage , Elston N D'Souza , Shan Dong , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Ishita Bhatnagar , Ed Blair , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , David J Coman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Petr Danecek , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Frances Elmslie , Care-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Anne Goriely , Christina L Grant , Tobias Haack , Jenny E Higgs , Anjali G Hinch , Matthew E Hurles , Alma Kuechler , Katherine L Lachlan , Seema R Lalani , François Lecoquierre , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Sarah Lindsay , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Sahar Mansour , Taylor M Maurer , Hector R Mendez , Kay Metcalfe , Stephen B Montgomery , Mariya Moosajee , Marie-Cécile Nassogne , Serena Neumann , Michael O'Donoghue , Melanie O'Leary , Elizabeth E Palmer , Nikhil Pattani , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Charles J Shaw-Smith , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Helen S Stewart , Tiong Yang Tan , Natalie B Tan , Suzanna E L Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Pradeep Vasudevan , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Caroline F Wright , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna M M Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

Similarities and differences in patterns of germline mutation between mice and humans.

Nature communications

Avec: Sarah J Lindsay , Raheleh Rahbari , Joanna Kaplanis , Thomas Keane , Matthew E Hurles

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.

Genome research

Avec: Joanna Kaplanis , Nadia Akawi , Giuseppe Gallone , Jeremy F McRae , Elena Prigmore , Caroline F Wright , David R Fitzpatrick , Helen V Firth , Jeffrey C Barrett , Matthew E Hurles , Auteur inconnu

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lancet (London, England)

Avec: Jenny Lord , Dominic J McMullan , Ruth Y Eberhardt , Gabriele Rinck , Susan J Hamilton , Elizabeth Quinlan-Jones , Elena Prigmore , Rebecca Keelagher , Sunayna K Best , Georgina K Carey , Rhiannon Mellis , Sarah Robart , Ian R Berry , Kate E Chandler , Deirdre Cilliers , Lara Cresswell , Sandra L Edwards , Carol Gardiner , Alex Henderson , Simon T Holden , Tessa Homfray , Tracy Lester , Rebecca A Lewis , Ruth Newbury-Ecob , Katrina Prescott , Oliver W Quarrell , Simon C Ramsden , Eileen Roberts , Dagmar Tapon , Madeleine J Tooley , Pradeep C Vasudevan , Astrid P Weber , Diana G Wellesley , Paul Westwood , Helen White , Michael Parker , Denise Williams , Lucy Jenkins , Richard H Scott , Mark D Kilby , Lyn S Chitty , Matthew E Hurles , Eamonn R Maher , Auteur inconnu

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.

Fetal diagnosis and therapy

Avec: Shahela S Kodabuckus , Elizabeth Quinlan-Jones , Dominic J McMullan , Eamonn R Maher , Matthew E Hurles , Pelham M Barton , Mark D Kilby

Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders.

Nature communications

Avec: Dave T Gerrard , Andrew A Berry , Rachel E Jennings , Matthew J Birket , Peyman Zarrineh , Myles G Garstang , Sarah L Withey , Patrick Short , Sandra Jiménez-Gancedo , Panos N Firbas , Ian Donaldson , Andrew D Sharrocks , Karen Piper Hanley , Matthew E Hurles , José Luis Gomez-Skarmeta , Nicoletta Bobola , Neil A Hanley

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

BJOG : an international journal of obstetrics and gynaecology

Avec: R Mellis , R Y Eberhardt , S J Hamilton , Auteur inconnu , D J McMullan , M D Kilby , E R Maher , M E Hurles , J L Giordano , V Aggarwal , D B Goldstein , R J Wapner , L S Chitty

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

PLoS genetics

Avec: Enrique Audain , Anna Wilsdon , Jeroen Breckpot , Jose M G Izarzugaza , Tomas W Fitzgerald , Anne-Karin Kahlert , Alejandro Sifrim , Florian Wünnemann , Yasset Perez-Riverol , Hashim Abdul-Khaliq , Mads Bak , Anne S Bassett , D Woodrow Benson , Felix Berger , Ingo Daehnert , Koenraad Devriendt , Sven Dittrich , Piers Ef Daubeney , Vidu Garg , Karl Hackmann , Kirstin Hoff , Philipp Hofmann , Gregor Dombrowsky , Thomas Pickardt , Ulrike Bauer , Bernard D Keavney , Sabine Klaassen , Hans-Heiner Kramer , Christian R Marshall , Dianna M Milewicz , Scott Lemaire , Joseph S Coselli , Michael E Mitchell , Aoy Tomita-Mitchell , Siddharth K Prakash , Karl Stamm , Alexandre F R Stewart , Candice K Silversides , Reiner Siebert , Brigitte Stiller , Jill A Rosenfeld , Inga Vater , Alex V Postma , Almuth Caliebe , J David Brook , Gregor Andelfinger , Matthew E Hurles , Bernard Thienpont , Lars Allan Larsen , Marc-Phillip Hitz

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.

American journal of human genetics

Avec: Eugene J Gardner , Alejandro Sifrim , Sarah J Lindsay , Elena Prigmore , Diana Rajan , Petr Danecek , Giuseppe Gallone , Ruth Y Eberhardt , Hilary C Martin , Caroline F Wright , David R FitzPatrick , Helen V Firth , Matthew E Hurles

Prospective study design and data analysis in UK Biobank.

Science translational medicine

Avec: Naomi E Allen , Ben Lacey , Deborah A Lawlor , Jill P Pell , John Gallacher , Liam Smeeth , Paul Elliott , Paul M Matthews , Ronan A Lyons , Anthony D Whetton , Anneke Lucassen , Matthew E Hurles , Michael Chapman , Andrew W Roddam , Natalie K Fitzpatrick , Anna L Hansell , Rebecca Hardy , Riccardo E Marioni , Valerie B O'Donnell , Julie Williams , Cecilia M Lindgren , Mark Effingham , Jonathan Sellors , John Danesh , Rory Collins

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.

Genetics in medicine open

Avec: Ruth Y Eberhardt , Caroline F Wright , David R FitzPatrick , Matthew E Hurles , Helen V Firth

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature

Avec: James E D Thaventhiran , Hana Lango Allen , Oliver S Burren , William Rae , Daniel Greene , Emily Staples , Zinan Zhang , James H R Farmery , Ilenia Simeoni , Elizabeth Rivers , Jesmeen Maimaris , Christopher J Penkett , Jonathan Stephens , Sri V V Deevi , Alba Sanchis-Juan , Nicholas S Gleadall , Moira J Thomas , Ravishankar B Sargur , Pavels Gordins , Helen E Baxendale , Matthew Brown , Paul Tuijnenburg , Austen Worth , Steven Hanson , Rachel J Linger , Matthew S Buckland , Paula J Rayner-Matthews , Kimberly C Gilmour , Crina Samarghitean , Suranjith L Seneviratne , David M Sansom , Andy G Lynch , Karyn Megy , Eva Ellinghaus , David Ellinghaus , Silje F Jorgensen , Tom H Karlsen , Kathleen E Stirrups , Antony J Cutler , Dinakantha S Kumararatne , Anita Chandra , J David M Edgar , Archana Herwadkar , Nichola Cooper , Sofia Grigoriadou , Aarnoud P Huissoon , Sarah Goddard , Stephen Jolles , Catharina Schuetz , Felix Boschann , Auteur inconnu , Paul A Lyons , Matthew E Hurles , Sinisa Savic , Siobhan O Burns , Taco W Kuijpers , Ernest Turro , Willem H Ouwehand , Adrian J Thrasher , Kenneth G C Smith

Population Structure, Stratification, and Introgression of Human Structural Variation.

Cell

Avec: Mohamed A Almarri , Anders Bergström , Javier Prado-Martinez , Fengtang Yang , Beiyuan Fu , Alistair S Dunham , Yuan Chen , Matthew E Hurles , Chris Tyler-Smith , Yali Xue

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: F Mone , R Y Eberhardt , R K Morris , M E Hurles , D J McMullan , E R Maher , J Lord , L S Chitty , J L Giordano , R J Wapner , M D Kilby , Auteur inconnu

Pathogenicity and selective constraint on variation near splice sites.

Genome research

Avec: Jenny Lord , Giuseppe Gallone , Patrick J Short , Jeremy F McRae , Holly Ironfield , Elizabeth H Wynn , Sebastian S Gerety , Liu He , Bronwyn Kerr , Diana S Johnson , Emma McCann , Esther Kinning , Frances Flinter , I Karen Temple , Jill Clayton-Smith , Meriel McEntagart , Sally Ann Lynch , Shelagh Joss , Sofia Douzgou , Tabib Dabir , Virginia Clowes , Vivienne P M McConnell , Wayne Lam , Caroline F Wright , David R FitzPatrick , Helen V Firth , Jeffrey C Barrett , Matthew E Hurles , Auteur inconnu

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Caroline F Wright , Ruth Y Eberhardt , Panayiotis Constantinou , Matthew E Hurles , David R FitzPatrick , Helen V Firth , Auteur inconnu

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

PLoS genetics

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.

HGG advances

Avec: Stuart Aitken , Helen V Firth , Caroline F Wright , Matthew E Hurles , David R FitzPatrick , Colin A Semple

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Brain : a journal of neurology

Avec: Maria O Levitin , Lettie E Rawlins , Gabriela Sanchez-Andrade , Osama A Arshad , Stephan C Collins , Stephen J Sawiak , Phillip H Iffland , Malin H L Andersson , Caleb Bupp , Emma L Cambridge , Eve L Coomber , Ian Ellis , Johanna C Herkert , Holly Ironfield , Logan Jory , Perrine F Kretz , Sarina G Kant , Alexandra Neaverson , Esther Nibbeling , Christine Rowley , Emily Relton , Mark Sanderson , Ethan M Scott , Helen Stewart , Andrew Y Shuen , John Schreiber , Liz Tuck , James Tonks , Thorkild Terkelsen , Conny van Ravenswaaij-Arts , Pradeep Vasudevan , Olivia Wenger , Michael Wright , Andrew Day , Adam Hunter , Minal Patel , Christopher J Lelliott , Peter B Crino , Binnaz Yalcin , Andrew H Crosby , Emma L Baple , Darren W Logan , Matthew E Hurles , Sebastian S Gerety

An Atlas of Variant Effects to understand the genome at nucleotide resolution.

Genome biology

Avec: Douglas M Fowler , David J Adams , Anna L Gloyn , William C Hahn , Debora S Marks , Lara A Muffley , James T Neal , Frederick P Roth , Alan F Rubin , Lea M Starita , Matthew E Hurles

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: F Mone , R Y Eberhardt , M E Hurles , D J Mcmullan , E R Maher , J Lord , L S Chitty , E Dempsey , T Homfray , J L Giordano , R J Wapner , L Sun , T N Sparks , M E Norton , M D Kilby

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Nature

Avec: Joanna Kaplanis , Kaitlin E Samocha , Laurens Wiel , Zhancheng Zhang , Kevin J Arvai , Ruth Y Eberhardt , Giuseppe Gallone , Stefan H Lelieveld , Hilary C Martin , Jeremy F McRae , Patrick J Short , Rebecca I Torene , Elke de Boer , Petr Danecek , Eugene J Gardner , Ni Huang , Jenny Lord , Iñigo Martincorena , Rolph Pfundt , Margot R F Reijnders , Alison Yeung , Helger G Yntema , Auteur inconnu , Lisenka E L M Vissers , Jane Juusola , Caroline F Wright , Han G Brunner , Helen V Firth , David R FitzPatrick , Jeffrey C Barrett , Matthew E Hurles , Christian Gilissen , Kyle Retterer

VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations.

Bioinformatics (Oxford, England)

Avec: James D Stephenson , Roman A Laskowski , Andrew Nightingale , Matthew E Hurles , Janet M Thornton

The contribution of X-linked coding variation to severe developmental disorders.

Nature communications

Avec: Hilary C Martin , Eugene J Gardner , Kaitlin E Samocha , Joanna Kaplanis , Nadia Akawi , Alejandro Sifrim , Ruth Y Eberhardt , Ana Lisa Taylor Tavares , Matthew D C Neville , Mari E K Niemi , Giuseppe Gallone , Jeremy McRae , Auteur inconnu , Caroline F Wright , David R FitzPatrick , Helen V Firth , Matthew E Hurles

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Nature communications

Avec: Anja Thormann , Mihail Halachev , William McLaren , David J Moore , Victoria Svinti , Archie Campbell , Shona M Kerr , Marc Tischkowitz , Sarah E Hunt , Malcolm G Dunlop , Matthew E Hurles , Caroline F Wright , Helen V Firth , Fiona Cunningham , David R FitzPatrick

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Nature communications

Avec: C F Wright , E Prigmore , D Rajan , J Handsaker , J McRae , J Kaplanis , T W Fitzgerald , D R FitzPatrick , H V Firth , M E Hurles

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

American journal of human genetics

Avec: Stuart Aitken , Helen V Firth , Jeremy McRae , Mihail Halachev , Usha Kini , Michael J Parker , Melissa M Lees , Katherine Lachlan , Ajoy Sarkar , Shelagh Joss , Miranda Splitt , Shane McKee , Andrea H Németh , Richard H Scott , Caroline F Wright , Joseph A Marsh , Matthew E Hurles , David R FitzPatrick , Auteur inconnu

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Eva S van Walree , Gregor Dombrowsky , Iris E Jansen , Maša Umićević Mirkov , Rob Zwart , Aho Ilgun , Dongchuan Guo , Sally-Ann B Clur , Ahmed S Amin , Jeanne E Savage , Allard C van der Wal , Quinten Waisfisz , Alessandra Maugeri , Anna Wilsdon , Frances A Bu'Lock , Matthew E Hurles , Sven Dittrich , Felix Berger , Enrique Audain Martinez , Vincent M Christoffels , Marc-Philip Hitz , Dianna M Milewicz , Daniëlle Posthuma , Hanne Meijers-Heijboer , Alex V Postma , Inge B Mathijssen

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

American journal of human genetics

Avec: Caroline F Wright , Nicholas M Quaife , Laura Ramos-Hernández , Petr Danecek , Matteo P Ferla , Kaitlin E Samocha , Joanna Kaplanis , Eugene J Gardner , Ruth Y Eberhardt , Katherine R Chao , Konrad J Karczewski , Joannella Morales , Giuseppe Gallone , Meena Balasubramanian , Siddharth Banka , Lianne Gompertz , Bronwyn Kerr , Amelia Kirby , Sally A Lynch , Jenny E V Morton , Hailey Pinz , Francis H Sansbury , Helen Stewart , Britton D Zuccarelli , Auteur inconnu , Stuart A Cook , Jenny C Taylor , Jane Juusola , Kyle Retterer , Helen V Firth , Matthew E Hurles , Enrique Lara-Pezzi , Paul J R Barton , Nicola Whiffin

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Nature genetics

Avec: Andrew J Waters , Timothy Brendler-Spaeth , Danielle Smith , Victoria Offord , Hong Kee Tan , Yajie Zhao , Sofia Obolenski , Maartje Nielsen , Remco van Doorn , Jo-Ellen Murphy , Prashant Gupta , Charlie F Rowlands , Helen Hanson , Erwan Delage , Mark Thomas , Elizabeth J Radford , Sebastian S Gerety , Clare Turnbull , John R B Perry , Matthew E Hurles , David J Adams

Genetic links between ovarian ageing, cancer risk and de novo mutation rates.

Nature

Avec: Stasa Stankovic , Saleh Shekari , Qin Qin Huang , Eugene J Gardner , Erna V Ivarsdottir , Nick D L Owens , Nasim Mavaddat , Ajuna Azad , Gareth Hawkes , Katherine A Kentistou , Robin N Beaumont , Felix R Day , Yajie Zhao , Hakon Jonsson , Thorunn Rafnar , Vinicius Tragante , Gardar Sveinbjornsson , Asmundur Oddsson , Unnur Styrkarsdottir , Julius Gudmundsson , Simon N Stacey , Daniel F Gudbjartsson , Auteur inconnu , Kitale Kennedy , Andrew R Wood , Michael N Weedon , Ken K Ong , Caroline F Wright , Eva R Hoffmann , Patrick Sulem , Matthew E Hurles , Katherine S Ruth , Hilary C Martin , Kari Stefansson , John R B Perry , Anna Murray

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Nature genetics

Avec: Janina Sörmann , Marcus Schewe , Peter Proks , Thibault Jouen-Tachoire , Shanlin Rao , Elena B Riel , Katherine E Agre , Amber Begtrup , John Dean , Maria Descartes , Jan Fischer , Alice Gardham , Carrie Lahner , Paul R Mark , Srikanth Muppidi , Pavel N Pichurin , Joseph Porrmann , Jens Schallner , Kirstin Smith , Volker Straub , Pradeep Vasudevan , Rebecca Willaert , Elisabeth P Carpenter , Karin E J Rödström , Michael G Hahn , Thomas Müller , Thomas Baukrowitz , Matthew E Hurles , Caroline F Wright , Stephen J Tucker

A minimal role for synonymous variation in human disease.

American journal of human genetics

Avec: Ryan S Dhindsa , Quanli Wang , Dimitrios Vitsios , Oliver S Burren , Fengyuan Hu , James E DiCarlo , Leonid Kruglyak , Daniel G MacArthur , Matthew E Hurles , Slavé Petrovski

Differentiation of human induced pluripotent stem cells into cortical neural stem cells.

Frontiers in cell and developmental biology

Avec: Alexandra Neaverson , Malin H L Andersson , Osama A Arshad , Luke Foulser , Mary Goodwin-Trotman , Adam Hunter , Ben Newman , Minal Patel , Charlotte Roth , Tristan Thwaites , Helena Kilpinen , Matthew E Hurles , Andrew Day , Sebastian S Gerety

Rare genetic variants impact muscle strength.

Nature communications

Avec: Yunfeng Huang , Dora Bodnar , Chia-Yen Chen , Gabriela Sanchez-Andrade , Mark Sanderson , Auteur inconnu , Jun Shi , Katherine G Meilleur , Matthew E Hurles , Sebastian S Gerety , Ellen A Tsai , Heiko Runz

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

The New England journal of medicine

Avec: Caroline F Wright , Patrick Campbell , Ruth Y Eberhardt , Stuart Aitken , Daniel Perrett , Simon Brent , Petr Danecek , Eugene J Gardner , V Kartik Chundru , Sarah J Lindsay , Katrina Andrews , Juliet Hampstead , Joanna Kaplanis , Kaitlin E Samocha , Anna Middleton , Julia Foreman , Rachel J Hobson , Michael J Parker , Hilary C Martin , David R FitzPatrick , Matthew E Hurles , Helen V Firth , Auteur inconnu

The impact of rare protein coding genetic variation on adult cognitive function.

Nature genetics

Avec: Chia-Yen Chen , Ruoyu Tian , Tian Ge , Max Lam , Gabriela Sanchez-Andrade , Tarjinder Singh , Lea Urpa , Jimmy Z Liu , Mark Sanderson , Christine Rowley , Holly Ironfield , Terry Fang , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mark Daly , Aarno Palotie , Ellen A Tsai , Hailiang Huang , Matthew E Hurles , Sebastian S Gerety , Todd Lencz , Heiko Runz

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Nature communications

Avec: Elizabeth J Radford , Hong-Kee Tan , Malin H L Andersson , James D Stephenson , Eugene J Gardner , Holly Ironfield , Andrew J Waters , Daniel Gitterman , Sarah Lindsay , Federico Abascal , Iñigo Martincorena , Anna Kolesnik-Taylor , Elise Ng-Cordell , Helen V Firth , Kate Baker , John R B Perry , David J Adams , Sebastian S Gerety , Matthew E Hurles

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Nature genetics

Avec: V Kartik Chundru , Zhancheng Zhang , Klaudia Walter , Sarah J Lindsay , Petr Danecek , Ruth Y Eberhardt , Eugene J Gardner , Daniel S Malawsky , Emilie M Wigdor , Rebecca Torene , Kyle Retterer , Caroline F Wright , Hildur Ólafsdóttir , Maria J Guillen Sacoto , Akif Ayaz , Ismail Hakki Akbeyaz , Dilşad Türkdoğan , Aaisha Ibrahim Al Balushi , Aida Bertoli-Avella , Peter Bauer , Emmanuelle Szenker-Ravi , Bruno Reversade , Kirsty McWalter , Eamonn Sheridan , Helen V Firth , Matthew E Hurles , Kaitlin E Samocha , Vincent D Ustach , Hilary C Martin

Réseau de co-auteurs

Matthew E Hurles 48 collaborations

None None 23 collaborations

Helen V Firth 17 collaborations

Caroline F Wright 17 collaborations

Ruth Y Eberhardt 12 collaborations

David R FitzPatrick 11 collaborations

Eugene J Gardner 10 collaborations

Hilary C Martin 10 collaborations

Kaitlin E Samocha 9 collaborations

Sebastian S Gerety 8 collaborations

Giuseppe Gallone 7 collaborations

Petr Danecek 7 collaborations

Joanna Kaplanis 6 collaborations

Jenny Lord 5 collaborations

Elena Prigmore 5 collaborations

Sarah J Lindsay 5 collaborations

Holly Ironfield 5 collaborations

Alejandro Sifrim 5 collaborations

Elizabeth Quinlan-Jones 4 collaborations

Dominic J McMullan 4 collaborations

Eamonn R Maher 4 collaborations

Mark D Kilby 4 collaborations

John R B Perry 4 collaborations

Rory Collins 3 collaborations

Daniel G MacArthur 3 collaborations

Patrick J Short 3 collaborations

V Kartik Chundru 3 collaborations

Jill A Rosenfeld 3 collaborations

Pradeep Vasudevan 3 collaborations

Jeremy F McRae 3 collaborations

Jeffrey C Barrett 3 collaborations

R Y Eberhardt 3 collaborations

M D Kilby 3 collaborations

E R Maher 3 collaborations

J L Giordano 3 collaborations

R J Wapner 3 collaborations

L S Chitty 3 collaborations

Anna Wilsdon 3 collaborations

Felix Berger 3 collaborations

Sven Dittrich 3 collaborations

Gregor Dombrowsky 3 collaborations

Dianna M Milewicz 3 collaborations

Alex V Postma 3 collaborations

Oliver S Burren 3 collaborations

Stuart Aitken 3 collaborations

Gabriela Sanchez-Andrade 3 collaborations

Malin H L Andersson 3 collaborations

Mark Sanderson 3 collaborations

David J Adams 3 collaborations

Kyle Retterer 3 collaborations

Denise Williams 2 collaborations

Gabriele Rinck 2 collaborations

Rebecca Keelagher 2 collaborations

Matthew D C Neville 2 collaborations

Mari E K Niemi 2 collaborations

Qin Qin Huang 2 collaborations

Ken K Ong 2 collaborations

Cecilia M Lindgren 2 collaborations

Heidi L Rehm 2 collaborations

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