C Deshpande
Guy's and St Thomas' NHS Foundation Trust
5 Papers
29 Citations
C Deshpande is an academic researcher from Guy's and St Thomas' NHS Foundation Trust. The author has contributed to research in topics: Mutation (genetic algorithm) & Exome. The author has an hindex of 3, co-authored 5 publications.
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Papers
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F. McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,M Ahmed,U Anjum,Hayley Archer,Hayley Archer,Ruth Armstrong,J Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,P Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,B Bernhard,AP Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,D Bohanna,L Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,C Brewer,K Brunstrom,DJ Bunyan,J Burn,Natalie Canham,Bruce Castle,Kate Chandler,Eleni A. Chatzimichali,D Cilliers,Angus John Clarke,Angus John Clarke,S Clasper,Jill Clayton-Smith,Clowes,A Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,MN Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,G Cross,Yanick J. Crow,M D'Alessandro,Tabib Dabir,Rosemarie Davidson,Simon J. Davies,Simon J. Davies,D de Vries,John Dean,C Deshpande,G Devlin,Abhijit Dixit,A Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,C Donnelly,Angela E. Douglas,Sofia Douzgou,A Duncan,Jacqueline Eason,Sian Ellard,I Ellis,Frances Elmslie,K Evans,K Evans,S Everest,T Fendick,R Fisher,Frances Flinter,Nicola Foulds,Andrew E. Fry,Andrew E. Fry,Alan Fryer,C Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,L Greenhalgh,Susan M. Gribble,L Harrison,Harrison,R Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,M Holder,Susan E. Holder,G Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,S Ingram,Melita Irving,L Islam,Andrew Jackson,J Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. Jones,Dragana Josifova,Shelagh Joss,B Kaemba,S Kazembe,Rosemary Kelsell,Bronwyn Kerr,Helen Kingston,Usha Kini,Esther Kinning,G Kirby,Claire Kirk,E Kivuva,Alison Kraus,Dhavendra Kumar,Dhavendra Kumar,Vka Kumar,Katherine Lachlan,Wayne Lam,A Lampe,Caroline Langman,Melissa Lees,D Lim,C Longman,G Lowther,Sally Ann Lynch,Alex Magee,E Maher,Alison Male,Sahar Mansour,K Marks,Katherine Martin,U Maye,Emma McCann,McConnell,Meriel M. McEntagart,Ruth McGowan,K McKay,Shane McKee,Dominic J. McMullan,Susan E. McNerlan,C McWilliam,Sarju G. Mehta,Kay Metcalfe,Anna Middleton,Z Miedzybrodzka,E Miles,Shehla Mohammed,Tara Montgomery,David Moore,Sian Morgan,Sian Morgan,Jenny Morton,Hood Mugalaasi,Hood Mugalaasi,Murday,Helen Murphy,S Naik,Andrea H. Németh,L Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,R O'Shea,Caroline Mackie Ogilvie,K-R Ong,S-M Park,Michael Parker,Chirag N. Patel,Joan Paterson,S Payne,Daniel Perrett,Julie M. Phipps,DT Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,N Pratt,Katrina Prescott,Susan Price,A Pridham,A Procter,A Procter,H Purnell,O. W.J. Quarrell,Nicola K. Ragge,Raheleh Rahbari,Joshua C. Randall,J Rankin,Lucy Raymond,D Rice,Leema Robert,E Roberts,J Roberts,Pendaran Roberts,Gillian Roberts,Allyson Ross,Elisabeth Rosser,Anand Saggar,S Samant,Julian R. Sampson,Julian R. Sampson,R Sandford,Ajoy Sarkar,S Schweiger,Richard H Scott,Ingrid Scurr,A Selby,Anneke Seller,C Sequeira,Nora Shannon,Saba Sharif,C Shaw-Smith,Emma Shearing,Deborah J. Shears,Eamonn Sheridan,Ingrid Simonic,R Singzon,Zara Skitt,Andrew Smith,Kath Smith,Sarah F. Smithson,Linda Sneddon,Miranda Splitt,M Squires,Fiona Stewart,H. Stewart,Straub,Mohnish Suri,Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Katrina Tatton-Brown,Clare Taylor,R. Taylor,M Tein,IK Temple,J Thomson,Marc Tischkowitz,Susan Tomkins,A Torokwa,Becky Treacy,Claire L. S. Turner,Peter D. Turnpenny,C Tysoe,A Vandersteen,Varghese,Varghese,Pradeep C. Vasudevan,Parthiban Vijayarangakannan,Julie Vogt,Emma Wakeling,S Wallwark,J Waters,Astrid Weber,Diana Wellesley,Margo Whiteford,Sara Widaa,S Wilcox,E Wilkinson,Denise Williams,N Williams,Louise C. Wilson,G Woods,C Wragg,Michael Wright,Laura Yates,M Yau,Christoffer Nellåker,Helen V. Firth,Helen V. Firth,Caroline F. Wright,FitzPatrick,FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +312 more
TL;DR: It is shown that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother.
The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.
Charlotte L. Alston,Andreas Bender,Iain P. Hargreaves,Helen Mundy,C Deshpande,Thomas Klopstock,Robert McFarland,Rita Horvath,Robert W. Taylor +8 more
TL;DR: Investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss are reported, with single fibre mutation studies confirming segregation of them.
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Detection of pathogenic splicing events from RNA-sequencing data using dasper
David Zhang,Regina H. Reynolds,Sonia García-Ruiz,Emil K. Gustavsson,Sethi S,Sethi S,Aguti S,Ines A. Barbosa,Jack J Collier,Holden H,Robert McFarland,Francesco Muntoni,Francesco Muntoni,Monika Oláhová,Joanna Poulton,Michael A. Simpson,R.D.S. Pitceathly,Robert W. Taylor,Haiyan Zhou,Haiyan Zhou,C Deshpande,Juan A. Botía,Juan A. Botía,Leonardo Collado-Torres,Mina Ryten +24 more
TL;DR: Dasper as mentioned in this paper is an R/Bioconductor package that improves upon existing tools for detecting aberrant splicing by using machine learning to incorporate disruptions in exon-exon junction counts as well as coverage.
Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics
Carl Fratter,Eszter Dombi,Janet Carver,K. Sergeant,I.A. Barbosa,Monika Hofer,M. Esiri,David Hilton-Jones,Sandeep Jayawant,S. Olpin,C Deshpande,M.A. Simpson,Joanna Poulton +12 more
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Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Michael Parker,C Deshpande,Julia Rankin,Louise C. Wilson,Meena Balasubramanian,Christine Hall,Bart E. Wagner,Rebecca C. Pollitt,Ann Dalton,Nick Bishop +9 more
TL;DR: Two cases with a phenotypic overlap between OI and RSS who both have COL1A1 mutations are described, and a type 1 collagenopathy should be considered in the differential diagnosis of syndromic short stature.