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Charu Deshpande
Researcher at Guy's and St Thomas' NHS Foundation Trust
Publications - 24
Citations - 1231
Charu Deshpande is an academic researcher from Guy's and St Thomas' NHS Foundation Trust. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 14, co-authored 20 publications receiving 994 citations. Previous affiliations of Charu Deshpande include Guy's Hospital & King's College London.
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Journal ArticleDOI
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Yvonne Nitschke,Geneviève Baujat,Ulrike Botschen,Tanja Wittkampf,Marcel du Moulin,Jacqueline Stella,Martine Le Merrer,Guest G,K Lambot,Marie-Frederique Tazarourte-Pinturier,Nicolas Chassaing,Olivier Roche,Ilse Feenstra,Karen J. Loechner,Charu Deshpande,Samuel J. Garber,Rashmi Chikarmane,Beat Steinmann,Tatevik Shahinyan,Loreto Martorell,Justin H Davies,Wendy E. Smith,Stephen G. Kahler,Mignon McCulloch,Elizabeth Wraige,Lourdes Loidi,Wolfgang Höhne,Ludovic Martin,Smail Hadj-Rabia,Robert Terkeltaub,Frank Rutsch +30 more
TL;DR: Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders.
Journal ArticleDOI
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Anath C. Lionel,Kristiina Tammimies,Kristiina Tammimies,Andrea K. Vaags,Jill A. Rosenfeld,Joo Wook Ahn,Daniele Merico,Abdul Noor,Cassandra K. Runke,Vamsee Pillalamarri,Melissa T. Carter,Matthew J. Gazzellone,Bhooma Thiruvahindrapuram,Christina Fagerberg,Lone W. Laulund,Giovanna Pellecchia,Sylvia Lamoureux,Charu Deshpande,Jill Clayton-Smith,Ann C White,Susan Leather,John Trounce,H. Melanie Bedford,Eli Hatchwell,Peggy S. Eis,Ryan K. C. Yuen,Susan Walker,Mohammed Uddin,Michael T. Geraghty,Michael T. Geraghty,Sarah M. Nikkel,Sarah M. Nikkel,Eva M Tomiak,Bridget A. Fernandez,Noam Soreni,Jennifer Crosbie,Paul D. Arnold,Russell Schachar,Wendy Roberts,Andrew D. Paterson,Joyce So,Peter Szatmari,Christina Chrysler,Marc Woodbury-Smith,R. Brian Lowry,Lonnie Zwaigenbaum,Divya Mandyam,John Wei,Jeffrey R. MacDonald,Jennifer L. Howe,Thomas Nalpathamkalam,Zhuozhi Wang,Daniel Tolson,David S Cobb,Timothy Wilks,Mark J Sorensen,Patricia I. Bader,Yu An,Bai-Lin Wu,Bai-Lin Wu,Bai-Lin Wu,Sebastiano A. Musumeci,Corrado Romano,Diana Postorivo,Anna Maria Nardone,Matteo Della Monica,Gioacchino Scarano,Leonardo Zoccante,Francesca Novara,Orsetta Zuffardi,Roberto Ciccone,Vincenzo Antona,Massimo Carella,Leopoldo Zelante,Pietro Cavalli,Carlo Poggiani,Ugo Cavallari,Bob Argiropoulos,Bob Argiropoulos,Bob Argiropoulos,Judy Chernos,Judy Chernos,Judy Chernos,Charlotte Brasch-Andersen,Marsha Speevak,Marco Fichera,Caroline Mackie Ogilvie,Yiping Shen,Yiping Shen,Yiping Shen,Jennelle C. Hodge,Michael E. Talkowski,Dimitri J. Stavropoulos,Christian R. Marshall,Stephen W. Scherer +94 more
TL;DR: The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females, and new light is shed on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment.
Journal ArticleDOI
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi,Jeremy F. McRae,Morad Ansari,Meena Balasubramanian,Moira Blyth,Angela F. Brady,Stephen Clayton,Trevor Cole,Charu Deshpande,Tomas W Fitzgerald,Nicola Foulds,Richard Francis,George C. Gabriel,Sebastian S. Gerety,Judith A. Goodship,Emma Hobson,Wendy D Jones,Shelagh Joss,Daniel A. King,Nikolai Klena,Ajith Kumar,Melissa Lees,Lelliott C,Jenny Lord,Dominic J. McMullan,Mary O'Regan,Deborah Osio,Virginia Piombo,Elena Prigmore,Diana Rajan,Elisabeth Rosser,Alejandro Sifrim,Audrey Smith,Ganesh J. Swaminathan,Peter D. Turnpenny,James Whitworth,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Cecilia W. Lo,David R. FitzPatrick,Matthew E. Hurles +41 more
TL;DR: Four new autosomal recessive disorders are identified by integrating Mendelian filtering with statistical assessments of the likelihood of sampling the observed genotypes from the general population and the phenotypic similarity of patients with recessive variants in the same candidate gene.
Journal ArticleDOI
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari,Gemma Poke,Quentin R. V. Ferry,Kathleen A. Williamson,R. B. Aldridge,Alison M. Meynert,Hemant Bengani,Cheng Yee Chan,Hülya Kayserili,Sahin Avci,Raoul C.M. Hennekam,AK Lampe,Egbert J.W. Redeker,Tessa Homfray,Alison Ross,Marie Falkenberg Smeland,Sahar Mansour,Michael Parker,Jacqueline Cook,Miranda Splitt,Richard Fisher,Alan Fryer,Alex Magee,Andrew O.M. Wilkie,Angela Barnicoat,Angela F. Brady,Nicola S. Cooper,Catherine Mercer,Charu Deshpande,Christopher P. Bennett,Daniela T. Pilz,Deborah Ruddy,Deirdre Cilliers,Diana Johnson,Dragana Josifova,Elisabeth Rosser,Elizabeth Thompson,Emma Wakeling,Esther Kinning,Fiona Stewart,Frances Flinter,Katta M. Girisha,Helen Cox,Helen V. Firth,Helen Kingston,Jamie S. Wee,Jane A. Hurst,Jill Clayton-Smith,John Tolmie,Julie Vogt,Katrina Tatton-Brown,Kate Chandler,Katrina Prescott,Louise C. Wilson,Mahdiyeh Behnam,Meriel McEntagart,Rosemarie Davidson,Sally Ann Lynch,Sanjay M. Sisodiya,Sarju G. Mehta,Shane McKee,Shehla Mohammed,Simon Holden,Soo Mi Park,Susan E. Holder,Victoria Harrison,Vivienne McConnell,Wayne K. Lam,Andrew Green,Dian Donnai,Maria Bitner-Glindzicz,Deirdre E. Donnelly,Christoffer Nellåker,Martin S. Taylor,David R. FitzPatrick +74 more
TL;DR: Future diagnostic testing in ‘mutation-negative’ CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues supporting the existence of undetected mosaic cases.
Journal ArticleDOI
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová,Steven A. Hardy,Julie Hall,John W. Yarham,Tobias B. Haack,William C. Wilson,Charlotte L. Alston,Langping He,Erik Aznauryan,Ruth M. Brown,Garry K. Brown,Andrew A. M. Morris,Helen Mundy,Alex Broomfield,Ines A. Barbosa,Michael A. Simpson,Charu Deshpande,Dorothea Moeslinger,Johannes Koch,Georg M. Stettner,Penelope E. Bonnen,Holger Prokisch,Robert N. Lightowlers,Robert McFarland,Zofia M.A. Chrzanowska-Lightowlers,Robert W. Taylor +25 more
TL;DR: The French-Canadian variant of COX-deficient Leigh syndrome (LSFC) is unique to Québec and caused by a founder mutation in the LRPPRC gene, associated with multisystem mitochondrial disease and early-onset neurodevelopmental problems in ten patients from different ethnic backgrounds.