Publications by authors named "Rob Hastings"

9Publications

Pulling the Strands Together: MEGA Steps to Drive European Genomics and Personalised Medicine.

Authors:
Denis Horgan Mario Romao Rob Hastings

Biomed Hub 2017 Nov-Dec;2(Suppl 1):169-179. Epub 2017 Nov 21.

Independent Precision Medicine Consultant, Cambridge, UK.

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November 2017

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Authors:
Andrea H Németh Alexandra C Kwasniewska Stefano Lise Ricardo Parolin Schnekenberg Esther B E Becker Katarzyna D Bera Morag E Shanks Lorna Gregory David Buck M Zameel Cader Kevin Talbot Rajith de Silva Nicholas Fletcher Rob Hastings Sandeep Jayawant Patrick J Morrison Paul Worth Malcolm Taylor John Tolmie Mary O'Regan Ruth Valentine Emily Packham Julie Evans Anneke Seller Jiannis Ragoussis

Brain 2013 Oct 11;136(Pt 10):3106-18. Epub 2013 Sep 11.

1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.

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October 2013

Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?

Authors:
John S Ferguson Shymalar Gunatheesan Glen Brice Rob Hastings Ruth Newbury-Ecob Peter S Mortimer Sahar Mansour

Am J Med Genet A 2011 Nov 22;155A(11):2762-5. Epub 2011 Sep 22.

Department of Dermatology, St George's Healthcare NHS Trust, London, UK.

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November 2011

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Authors:
Alexander Hoischen Bregje W M van Bon Benjamín Rodríguez-Santiago Christian Gilissen Lisenka E L M Vissers Petra de Vries Irene Janssen Bart van Lier Rob Hastings Sarah F Smithson Ruth Newbury-Ecob Susanne Kjaergaard Judith Goodship Ruth McGowan Deborah Bartholdi Anita Rauch Maarit Peippo Jan M Cobben Dagmar Wieczorek Gabriele Gillessen-Kaesbach Joris A Veltman Han G Brunner Bert B B A de Vries

Nat Genet 2011 Jun 26;43(8):729-31. Epub 2011 Jun 26.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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June 2011

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Authors:
Rob Hastings Jan-Maarten Cobben Gabriele Gillessen-Kaesbach Judith Goodship Hanne Hove Susanne Kjaergaard Helena Kemp Helen Kingston Peter Lunt Sahar Mansour Ruth McGowan Kay Metcalfe Catherine Murdoch-Davis Mary Ray Marlène Rio Sarah Smithson John Tolmie Peter Turnpenny Bregje van Bon Dagmar Wieczorek Ruth Newbury-Ecob

Eur J Hum Genet 2011 May 2;19(5):513-9. Epub 2011 Feb 2.

Clinical Genetics Department, Univerity Hospitals NHS Foundation Trust, St Michael's Hospital, Bristol, UK.

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May 2011

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Authors:
Rob W T Hastings Ruth Newbury-Ecob Peter W Lunt

Clin Dysmorphol 2010 Oct;19(4):202-5

Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

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October 2010

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.

Authors:
Rob Hastings Ruth Newbury-Ecob Antony Ng Rohan Taylor

Genes Chromosomes Cancer 2010 Oct;49(10):967-8

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October 2010

Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?

Authors:
Rob Hastings David Harding Alan Donaldson Rachel Liebling Alison Hayes Alison Kraus Shelagh Joss Shuba Narayanaswamy Peter Turnpenny Sarah Smithson

Am J Med Genet A 2009 Dec;149A(12):2838-42

Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

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December 2009

Dysmorphology of Barth syndrome.

Authors:
Rob Hastings Colin Steward Beverly Tsai-Goodman Ruth Newbury-Ecob

Clin Dysmorphol 2009 Oct;18(4):185-7

Departments of Clinical Genetics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK.

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October 2009