Helen Brittain

Helen Brittain

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Helen Brittain

Helen Brittain

Publications by authors named "Helen Brittain"

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Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Am J Med Genet A 2019 07 15;179(7):1346-1350. Epub 2019 May 15.

Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.61169DOI Listing
July 2019

The rise of the genome and personalised medicine.

Clin Med (Lond) 2017 Dec;17(6):545-551

Guy's and St Thomas' NHS Foundation Trust, London, UK, Queen Mary University of London, UK and Genomics England, London, UK.

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http://dx.doi.org/10.7861/clinmedicine.17-6-545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297695PMC
December 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Achondroplasia: Really rhizomelic?

Am J Med Genet A 2016 08 3;170(8):2039-43. Epub 2016 Jun 3.

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37776DOI Listing
August 2016

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.

Brain Dev 2015 Aug 28;37(7):704-13. Epub 2014 Oct 28.

Neurophysiology Department, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.braindev.2014.10.007DOI Listing
August 2015

Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.

JAMA Dermatol 2015 Jun;151(6):675-7

Department of Pediatrics, Academic Medical Center (AMC) University Hospital, Amsterdam, the Netherlands.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2014.4900DOI Listing
June 2015