J
John Tolmie
Researcher at Southern General Hospital
Publications - 120
Citations - 9973
John Tolmie is an academic researcher from Southern General Hospital. The author has contributed to research in topics: Missense mutation & Mutation. The author has an hindex of 46, co-authored 119 publications receiving 9216 citations. Previous affiliations of John Tolmie include University of Glasgow & Florey Institute of Neuroscience and Mental Health.
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Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J. Crow,Yanick J. Crow,Andrea Leitch,Bruce E. Hayward,Anna Garner,Rekha Parmar,Elen Griffith,Manir Ali,Colin A. Semple,Jean Aicardi,Riyana Babul-Hirji,Clarisse Baumann,Peter Baxter,Enrico Bertini,Kate Chandler,David Chitayat,Daniel Cau,Catherine Dery,Elisa Fazzi,Cyril Goizet,Mary D. King,Joerg Klepper,Didier Lacombe,Giovanni Lanzi,Hermione Lyall,María Luisa Martínez-Frías,Michèle Mathieu,Carole McKeown,Anne Monier,Yvette Oade,Oliver Quarrell,Christopher D. Rittey,R. Curtis Rogers,Amparo Sanchis,John B.P. Stephenson,Uta Tacke,Marianne Till,John Tolmie,Pam Tomlin,Thomas Voit,Bernhard Weschke,C. Geoffrey Woods,Pierre Lebon,David T. Bonthron,Chris P. Ponting,Andrew P. Jackson +45 more
TL;DR: It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.
Journal ArticleDOI
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
Sandra Hanks,Kim Coleman,Sarah Reid,Alberto Plaja,Helen V. Firth,David R. FitzPatrick,Alexa Kidd,Károly Méhes,Richard Nash,Nathanial Robin,Nora Shannon,John Tolmie,John Swansbury,Alexandre Irrthum,Jenny Douglas,Nazneen Rahman +15 more
TL;DR: In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, truncating and missense mutations of BUB1B are identified, which encodes BUBR1, a key protein in the mitotic spindle checkpoint.
Journal ArticleDOI
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Deborah J. Marsh,Deborah J. Marsh,Jennifer B. Kum,Jennifer B. Kum,Kathryn L. Lunetta,Michael J. Bennett,Robert J. Gorlin,S Faisal Ahmed,Joann Bodurtha,Carol A. Crowe,Mary Curtis,Majed Dasouki,Teresa M. Dunn,Howard Feit,Michael T. Geraghty,John M. Graham,Shirley Hodgson,Alasdair G. W. Hunter,Bruce R. Korf,David K. Manchester,Susan Miesfeldt,Victoria Murday,Katherine L. Nathanson,Melissa A. Parisi,Barbara R. Pober,Corrado Romano,John Tolmie,Richard C. Trembath,Robin M. Winter,Elaine H. Zackai,Roberto T. Zori,Liang Ping Weng,Liang Ping Weng,Patricia L. M. Dahia,Patricia L. M. Dahia,Charis Eng,Charis Eng +36 more
TL;DR: Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.