Publications by authors named "Rob Hastings"

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Pulling the Strands Together: MEGA Steps to Drive European Genomics and Personalised Medicine.
Denis Horgan, Mario Romao, Rob Hastings

Biomed Hub· November 2017

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B E Becker, Rob Hastings

Brain· October 2013

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Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?
John S Ferguson, Shymalar Gunatheesan, Glen Brice, Rob Hastings, Ruth Newbury-Ecob

Am J Med Genet A· November 2011

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Alexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, Christian Gilissen, Lisenka E L M Vissers, Rob Hastings

Nat Genet· June 2011

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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove

Eur J Hum Genet· May 2011

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A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.
Rob Hastings, Ruth Newbury-Ecob, Antony Ng, Rohan Taylor

Genes Chromosomes Cancer· October 2010

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A case of probable Bohring-Opitz syndrome with medulloblastoma.
Rob W T Hastings, Ruth Newbury-Ecob, Peter W Lunt

Clin Dysmorphol· October 2010

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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?
Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes

Am J Med Genet A· December 2009

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Dysmorphology of Barth syndrome.
Rob Hastings, Colin Steward, Beverly Tsai-Goodman, Ruth Newbury-Ecob

Clin Dysmorphol· October 2009

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