J
James Cleak
Researcher at Medical Research Council
Publications - 19
Citations - 4093
James Cleak is an academic researcher from Medical Research Council. The author has contributed to research in topics: Genome & Medicine. The author has an hindex of 10, co-authored 15 publications receiving 3464 citations. Previous affiliations of James Cleak include Wellcome Trust Centre for Human Genetics & University of Oxford.
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Journal ArticleDOI
Mouse genomic variation and its effect on phenotypes and gene regulation
Thomas M. Keane,Leo Goodstadt,Petr Danecek,Michael A. White,Kim Wong,Binnaz Yalcin,Andreas Heger,Avigail Agam,Avigail Agam,Guy Slater,Martin Goodson,Nick Furlotte,Eleazar Eskin,Christoffer Nellåker,Helen Whitley,James Cleak,Deborah Janowitz,Deborah Janowitz,Polinka Hernandez-Pliego,Andrew Edwards,T G Belgard,Peter L. Oliver,Rebecca E. McIntyre,Amarjit Bhomra,Jérôme Nicod,Xiangchao Gan,Wei Yuan,L van der Weyden,Charles A. Steward,Sendu Bala,Jim Stalker,Richard Mott,Richard Durbin,Ian J. Jackson,Anne Czechanski,José Afonso Guerra-Assunção,Leah Rae Donahue,Laura G. Reinholdt,Bret A. Payseur,Chris P. Ponting,Ewan Birney,Jonathan Flint,David J. Adams +42 more
TL;DR: These sequences provide a starting point for a new era in the functional analysis of a key model organism and show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus.
Journal ArticleDOI
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson,Ann M. Flenniken,Xiao Ji,Lydia Teboul,Michael D. Wong,Jacqueline K. White,Terrence F. Meehan,Wolfgang Weninger,Henrik Westerberg,Hibret A. Adissu,Candice N. Baker,Lynette Bower,James M. Brown,L. Brianna Caddle,Francesco Chiani,Dave Clary,James Cleak,Mark J. Daly,James M. Denegre,Brendan Doe,Mary E. Dolan,Sarah M. Edie,Helmut Fuchs,Valerie Gailus-Durner,Antonella Galli,Alessia Gambadoro,Juan Gallegos,Shiying Guo,Neil R. Horner,Chih-Wei Hsu,Sara Johnson,Sowmya Kalaga,Lance C. Keith,Louise Lanoue,Thomas N. Lawson,Monkol Lek,Monkol Lek,Manuel Mark,Susan Marschall,Jeremy Mason,Melissa L. McElwee,Susan Newbigging,Lauryl M. J. Nutter,Kevin A. Peterson,Ramiro Ramirez-Solis,Douglas J. Rowland,Edward Ryder,Kaitlin E. Samocha,Kaitlin E. Samocha,John R. Seavitt,Mohammed Selloum,Zsombor Szoke-Kovacs,Masaru Tamura,Amanda G. Trainor,Ilinca Tudose,Shigeharu Wakana,Jonathan Warren,Olivia Wendling,David B. West,Leeyean Wong,Atsushi Yoshiki,Daniel G. MacArthur,Daniel G. MacArthur,Glauco P. Tocchini-Valentini,Xiang Gao,Paul Flicek,Allan Bradley,William C. Skarnes,Monica J. Justice,Helen Parkinson,Mark W. Moore,Sara Wells,Robert E. Braun,Karen L. Svenson,Martin Hrabé de Angelis,Yann Herault,Timothy J. Mohun,Ann-Marie Mallon,R. Mark Henkelman,Steve D.M. Brown,David J. Adams,Kevin C K Lloyd,Colin McKerlie,Arthur L. Beaudet,Maja Bucan,Stephen A. Murray +85 more
TL;DR: It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.
Journal ArticleDOI
The genome architecture of the collaborative cross mouse genetic reference population
Fuad A. Iraqi,Mustafa Mahajne,Yasser Salaymah,Hani Sandovski,Hanna Tayem,Karin Vered,Lois Balmer,Michael R. Hall,Glynn Manship,Grant Morahan,Ken Pettit,Jeremy Scholten,Kathryn Tweedie,Andrew Wallace,Lakshini Weerasekera,James Cleak,Caroline Durrant,Leo Goodstadt,Richard Mott,Binnaz Yalcin,David L. Aylor,Ralph S. Baric,Timothy A. Bell,Katharine M. Bendt,J. Brennan,Jackie D. Brooks,Ryan J. Buus,James J. Crowley,John D. Calaway,Mark Calaway,Agnieszka Cholka,David B. Darr,John P. Didion,Amy Dorman,Eric T. Everett,Martin T. Ferris,Wendy Foulds Mathes,Chen Ping Fu,Terry J. Gooch,Summer G. Goodson,Lisa E. Gralinski,Stephanie D. Hansen,Mark T. Heise,Jane Hoel,Kunjie Hua,Mayanga C. Kapita,Seunggeun Lee,Alan B. Lenarcic,Eric Yi Liu,Hedi Liu,Leonard McMillan,Terry Magnuson,Kenneth F. Manly,Darla R. Miller,Deborah A. O'Brien,Fanny Odet,Isa Kemal Pakatci,Wenqi Pan,Fernando Pardo-Manuel de Villena,Charles M. Perou,Daniel Pomp,Corey R. Quackenbush,Nashiya N. Robinson,Norman E. Sharpless,Ginger D. Shaw,Jason S. Spence,Patrick F. Sullivan,Wei Sun,Lisa M. Tarantino,William Valdar,Jeremy Wang,Wei Wang,Catherine E. Welsh,Alan C. Whitmore,Tim Wiltshire,Fred A. Wright,Yuying Xie,Zaining Yun,Vasyl Zhabotynsky,Zhaojun Zhang,Fei Zou,Christine L. Powell,Jill Steigerwalt,David W. Threadgill,Elissa J. Chesler,Gary A. Churchill,Daniel M. Gatti,Ron Korstanje,Karen L. Svenson,Francis S. Collins,Nigel P.S. Crawford,Kent W. Hunter,N. Samir,P. Kelada,Bailey C.E. Peck,Karlyne M. Reilly,Urraca Tavarez,Daniel Bottomly,Robert Hitzeman,Shannon K. McWeeney,Jeffrey A. Frelinger,Harsha Krovi,Jason Phillippi,Richard A. Spritz,Lauri D. Aicher,Michael G. Katze,Elizabeth Rosenzweig,Ariel Shusterman,Aysar Nashef,Ervin I. Weiss,Yael Houri-Haddad,Morris Soller,Robert W. Williams,Klaus Schughart,Hyuna Yang,John E. French,Andrew K. Benson,Jaehyoung Kim,Ryan Legge,Soo Jen Low,Fangrui Ma,Inés Martínez,Jens Walter,Karl W. Broman,Benedikt Hallgrímsson,Ophir D. Klein,George M. Weinstock,Wesley C. Warren,Yvana V. Yang,David A. Schwartz +129 more
TL;DR: The Collaborative Cross Consortium reports here on the development of a unique genetic resource population, a multiparental recombinant inbred panel derived from eight laboratory mouse inbred strains, which shows that founder haplotypes are inherited at the expected frequency.
Journal ArticleDOI
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
David A. Keays,Guoling Tian,Karine Poirier,Guo-Jen Huang,Christian Siebold,James Cleak,Peter L. Oliver,Martin Fray,Robert J. Harvey,Zoltán Molnár,Maria Carmen Piñon,Neil Dear,William Valdar,Steve D.M. Brown,Kay E. Davies,J. Nicholas P. Rawlins,Nicholas J. Cowan,Patrick M. Nolan,Jamel Chelly,Jonathan Flint +19 more
TL;DR: The utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders is demonstrated and the causative mutation lies in the guanosine triphosphate (GTP) binding pocket of α-1 tubulin (Tuba1) and affects tubulin heterodimer formation.
Journal ArticleDOI
Sequence-based characterization of structural variation in the mouse genome.
Binnaz Yalcin,Kim Wong,Avigail Agam,Avigail Agam,Martin Goodson,Thomas M. Keane,Xiangchao Gan,Christoffer Nellåker,Leo Goodstadt,Jérôme Nicod,Amarjit Bhomra,Polinka Hernandez-Pliego,Helen Whitley,James Cleak,Rebekah Dutton,Deborah Janowitz,Deborah Janowitz,Richard Mott,David J. Adams,Jonathan Flint +19 more
TL;DR: It is inferred that insertion of retrotransposons causes more than half of SVs, and 24 SVs are identified that disrupt coding exons, acting as rare variants of large effect on gene function.