M
Martin Bobrow
Researcher at Guy's Hospital
Publications - 123
Citations - 6753
Martin Bobrow is an academic researcher from Guy's Hospital. The author has contributed to research in topics: Muscular dystrophy & Duchenne muscular dystrophy. The author has an hindex of 42, co-authored 123 publications receiving 6666 citations.
Papers
More filters
The UK10K project identifies rare variants in health and disease
Klaudia Walter,Josine L. Min,Jie Huang,Lucy Crooks,Yasin Memari,Shane A. McCarthy,John R. B. Perry,ChangJiang Xu,Marta Futema,Daniel Lawson,Valentina Iotchkova,Stephan Schiffels,Audrey E. Hendricks,Petr Danecek,Rui Li,James A B Floyd,Louise V. Wain,Inês Barroso,Steve E. Humphries,Matthew E. Hurles,Eleftheria Zeggini,Jeffrey C. Barrett,Vincent Plagnol,J. Brent Richards,Celia M. T. Greenwood,Nicholas J. Timpson,Richard Durbin,Nicole Soranzo,Senduran Bala,Peter Clapham,Guy Coates,Tony Cox,Allan Daly,Yuanping Du,Sarah Edkins,Peter R. Ellis,Paul Flicek,Xiaosen Guo,Xueqin Guo,Liren Huang,David K. Jackson,Christopher J. Joyce,Thomas Keane,Anja Kolb-Kokocinski,Cordelia Langford,Yingrui Li,Jieqin Liang,Hong Lin,Ryan Liu,John Maslen,Dawn Muddyman,Michael A. Quail,Jim Stalker,Jianping Sun,Jing Tian,Guangbiao Wang,Jun Wang,Yu Wang,Kim Wong,Pingbo Zhang,Ewan Birney,Chris Boustred,Lu Chen,Gail Clement,Massimiliano Cocca,George Davey Smith,Ian N.M. Day,Aaron G. Day-Williams,Thomas A. Down,Ian Dunham,David M. Evans,Tom R. Gaunt,Matthias Geihs,Deborah J. Hart,Bryan Howie,Tim Hubbard,Pirro G. Hysi,Yalda Jamshidi,Konrad J. Karczewski,John P. Kemp,Genevieve Lachance,Monkol Lek,Margarida C. Lopes,Daniel G. MacArthur,Jonathan Marchini,Massimo Mangino,Iain Mathieson,Sarah Metrustry,Alireza Moayyeri,Kate Northstone,Kalliope Panoutsopoulou,Lavinia Paternoster,Lydia Quaye,Susan M. Ring,Graham R. S. Ritchie,Hashem A. Shihab,So-Youn Shin,Kerrin S. Small,María Soler Artigas,Lorraine Southam,Tim D. Spector,Beate St Pourcain,Gabriela L. Surdulescu,Ioanna Tachmazidou,Martin D. Tobin,Ana M. Valdes,Peter M. Visscher,Kirsten J. Ward,Scott Wilson,Jian Yang,Feng Zhang,Hou-Feng Zheng,Richard Anney,Muhammad Ayub,Douglas Blackwood,Patrick Bolton,Gerome Breen,David A. Collier,Nicholas John Craddock,Sarah Curran,David Curtis,Louise Gallagher,Daniel H. Geschwind,Hugh Gurling,Peter Holmans,Irene Lee,Jouko Lönnqvist,Peter McGuffin,Andrew M. McIntosh,Andrew McKechanie,Andrew McQuillin,James Morris,Michael Conlon O'Donovan,Michael John Owen,Aarno Palotie,Jeremy R. Parr,Tiina Paunio,Olli Pietiläinen,Karola Rehnström,Sally I. Sharp,David Skuse,David St Clair,Jaana Suvisaari,James T.R. Walters,Hywel Williams,Elena G. Bochukova,Rebecca Bounds,Anna F. Dominiczak,I. Sadaf Farooqi,Julia M. Keogh,Gaëlle Marenne,Andrew D. Morris,Stephen O'Rahilly,David J. Porteous,Blair H. Smith,Eleanor Wheeler,Saeed Al Turki,Carl A. Anderson,Dinu Antony,PL Beales,Jamie Bentham,Shoumo Bhattacharya,Mattia Calissano,Keren J. Carss,Krishna Chatterjee,Sebahattin Cirak,Catherine Cosgrove,David R. FitzPatrick,A. Reghan Foley,Christopher S. Franklin,Detelina Grozeva,Hannah M. Mitchison,Francesco Muntoni,Alexandros Onoufriadis,Victoria E. R. Parker,Felicity Payne,F. Lucy Raymond,Nicola D. Roberts,David B. Savage,Peter J. Scambler,Miriam Schmidts,Nadia Schoenmakers,Robert K. Semple,Eva Goncalves Serra,Olivera Spasic-Boskovic,Elizabeth Stevens,Margriet van Kogelenberg,Parthiban Vijayarangakannan,Kathleen A. Williamson,Crispian Wilson,Tamieka Whyte,Antonio Ciampi,Karim Oualkacha,Martin Bobrow,Heather Griffin,Jane Kaye,Karen Kennedy,Alastair Kent,Carol Smee,R. Charlton,Rosemary Ekong,Farrah Khawaja,Luis R. Lopes,Nicola Migone,Stewart J. Payne,Rebecca C. Pollitt,Sue Povey,Cheryl K. Ridout,Rachel L. Robinson,Richard H Scott,Adam Shaw,Petros Syrris,Rohan Taylor,Anthony M. Vandersteen,Antoinette Amuzu,Juan P. Casas,John C. Chambers,George Dedoussis,Giovanni Gambaro,Paolo Gasparini,Aaron Isaacs,Jon Johnson,Marcus E. Kleber,Jaspal S. Kooner,Claudia Langenberg,Jian'an Luan,Giovanni Malerba,Winfried Maerz,Angela Matchan,Richard W Morris,Børge G. Nordestgaard,Marianne Benn,Robert A. Scott,Daniela Toniolo,Michela Traglia,Anne Tybjærg-Hansen,Cornelia M. van Duijn,Elisabeth M. van Leeuwen,Anette Varbo,Peter H. Whincup,Gianluigi Zaza,Weihua Zhang +241 more
TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.
Journal ArticleDOI
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Charles Shaw-Smith,Richard Redon,L Rickman,Marlène Rio,Lionel Willatt,Heike Fiegler,Helen V. Firth,Damien Sanlaville,R Winter,Laurence Colleaux,Martin Bobrow,Nigel P. Carter +11 more
TL;DR: It is anticipated that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability and dysmorphism.
Journal ArticleDOI
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
Samantha J. L. Knight,A. V. Flannery,Mark C. Hirst,L. Campbell,Zoe Christodoulou,S. R. Phelps,J. Pointon,H.R. Middleton-Price,Angela Barnicoat,M.E. Pembrey,J. Holland,Ben A. Oostra,Martin Bobrow,Kay E. Davies +13 more
TL;DR: It is demonstrated that individuals with this fragile site FRAXE possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome, another example in which a trinucleotide repeat expansion is associated with a human genetic disorder.
Journal ArticleDOI
Genetics of classic Alport's syndrome.
TL;DR: 41 families with classic Alport's syndrome (hereditary nephritis with sensorineural deafness) were studied and linkage to probe S21 (DXS17) was confirmed, localising the gene for Alport’s syndrome to the middle of Xq; thus the disorder is X-chromosomal in nature.
Journal ArticleDOI
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Patrick S. Tarpey,F. Lucy Raymond,Sarah O’Meara,Sarah Edkins,Jon W. Teague,Adam Butler,Ed Dicks,Claire Stevens,Calli Tofts,Tim Avis,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Andrew M. Jenkinson,David T. Jones,Andrew Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,David S. Richardson,Rebecca Shepherd,Alexandra Small,Jennifer Varian,Sofie West,Sara Widaa,Uma Mallya,Jenny Moon,Ying Luo,Susan E. Holder,Sarah F. Smithson,Jane A. Hurst,Jill Clayton-Smith,Bronwyn Kerr,Jackie Boyle,Marie Shaw,Lucianne Vandeleur,Jayson Rodriguez,Rachel Slaugh,Douglas F. Easton,Richard Wooster,Martin Bobrow,Anand Srivastava,Roger E. Stevenson,Charles E. Schwartz,Gillian Turner,Jozef Gecz,Jozef Gecz,P. Andrew Futreal,Michael R. Stratton,Michael Partington +53 more
TL;DR: The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.