Sanjeev Bhaskar

Sanjeev Bhaskar

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Sanjeev Bhaskar

Sanjeev Bhaskar

Publications by authors named "Sanjeev Bhaskar"

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40Publications

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A deep intronic SMARCB1 variant associated with schwannomatosis.

Clin Genet 2019 Sep 9. Epub 2019 Sep 9.

NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13637DOI Listing
September 2019

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Clin Genet 2019 Aug 23. Epub 2019 Aug 23.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13631DOI Listing
August 2019

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Eur J Hum Genet 2017 06 5;25(6):719-724. Epub 2017 Apr 5.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176PMC
June 2017

Molecular findings from 537 individuals with inherited retinal disease.

J Med Genet 2016 Nov 11;53(11):761-767. Epub 2016 May 11.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103837
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http://dx.doi.org/10.1136/jmedgenet-2016-103837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106339PMC
November 2016

Non lethal Raine syndrome and differential diagnosis.

Eur J Med Genet 2016 Nov 22;59(11):577-583. Epub 2016 Sep 22.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.018DOI Listing
November 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology 2016 May 9;123(5):1143-50. Epub 2016 Feb 9.

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717PMC
May 2016

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

J Hum Genet 2015 Dec 17;60(12):781-5. Epub 2015 Sep 17.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1038/jhg.2015.111DOI Listing
December 2015

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Lancet 2015 May;385(9980):1916

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(15)60496-2DOI Listing
May 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

J Hum Genet 2015 Apr 15;60(4):199-202. Epub 2015 Jan 15.

1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/jhg.2014.122DOI Listing
April 2015

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.

BMC Clin Pathol 2015 24;15. Epub 2015 Mar 24.

Personalised HealthCare and Biomarkers, Innovative Medicines and Early Development, AstraZeneca, Alderley Park, Macclesfield, SK10 4TG UK.

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http://dx.doi.org/10.1186/s12907-015-0004-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391122PMC
April 2015

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Neurology 2015 Jan 5;84(2):141-7. Epub 2014 Dec 5.

From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.

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http://www.neurology.org/content/84/2/141.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000112
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http://dx.doi.org/10.1212/WNL.0000000000001129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336087PMC
January 2015

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

J Clin Oncol 2014 Dec 17;32(36):4155-61. Epub 2014 Nov 17.

Miriam J. Smith, Simon G. Williams, Sanjeev S. Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart, Zaynab Bholah, William G. Newman, and D. Gareth R. Evans, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust; Deemesh Oudit, Christie NHS Foundation Trust; Edmund Cheesman and Anna Kelsey, Central Manchester University Hospital NHS Foundation Trust, Royal Manchester Children's Hospital; Martin G. McCabe, Institute of Cancer Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; and Christian Beetz, Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena, Jena, Germany.

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http://jco.ascopubs.org/content/early/2014/11/20/JCO.2014.58
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.58.2569
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http://dx.doi.org/10.1200/JCO.2014.58.2569DOI Listing
December 2014

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Ophthalmology 2014 Nov 19;121(11):2124-37.e1-2. Epub 2014 Aug 19.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.006DOI Listing
November 2014

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Nat Genet 2013 Mar 3;45(3):295-8. Epub 2013 Feb 3.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/ng.2552DOI Listing
March 2013

Autozygosity mapping with exome sequence data.

Hum Mutat 2013 Jan 22;34(1):50-6. Epub 2012 Oct 22.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.22220DOI Listing
January 2013

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

J Med Genet 2012 May;49(5):322-6

Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary’s Hospital, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2012-100847DOI Listing
May 2012

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

Expansion of GAA trinucleotide repeats in mammals.

Genomics 2006 Jan 28;87(1):57-67. Epub 2005 Nov 28.

Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1016/j.ygeno.2005.09.006DOI Listing
January 2006