Andrew E Fry

Andrew E Fry

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Andrew E Fry

Andrew E Fry

Publications by authors named "Andrew E Fry"

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Tubulin genes and malformations of cortical development.

Eur J Med Genet 2018 Dec 17;61(12):744-754. Epub 2018 Jul 17.

Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.012DOI Listing
December 2018

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy Res 2018 02 3;140:166-170. Epub 2018 Feb 3.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.01.014DOI Listing
February 2018

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

Congenital glaucoma in Wagner syndrome.

J AAPOS 2014 Jun 24;18(3):291-3. Epub 2014 Apr 24.

Cardiff Eye Unit, University Hospital of Wales, Cardiff.

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http://dx.doi.org/10.1016/j.jaapos.2013.12.014DOI Listing
June 2014

The genetics of lissencephaly.

Am J Med Genet C Semin Med Genet 2014 Jun 23;166C(2):198-210. Epub 2014 May 23.

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http://dx.doi.org/10.1002/ajmg.c.31402DOI Listing
June 2014

Neuropsychiatric disease in patients with periventricular heterotopia.

J Neuropsychiatry Clin Neurosci 2013 ;25(1):26-31

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1176/appi.neuropsych.11110336DOI Listing
September 2013

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Brain 2013 Feb 29;136(Pt 2):536-48. Epub 2013 Jan 29.

Institute of Life Science, College of Medicine, Swansea University, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1093/brain/aws338DOI Listing
February 2013

Assessing genuine parents-offspring trios for genetic association studies.

Hum Hered 2009 17;67(1):26-37. Epub 2008 Oct 17.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1159/000164396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000594PMC
October 2009

Genome-wide comparisons of variation in linkage disequilibrium.

Genome Res 2009 Oct 18;19(10):1849-60. Epub 2009 Jun 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.092189.109
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http://dx.doi.org/10.1101/gr.092189.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765270PMC
October 2009

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Am J Med Genet A 2009 Oct;149A(10):2212-5

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.a.33027DOI Listing
October 2009

Genome-wide and fine-resolution association analysis of malaria in West Africa.

Nat Genet 2009 Jun 24;41(6):657-65. Epub 2009 May 24.

MRC Laboratories, Fajara, Banjul, Gambia.

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http://dx.doi.org/10.1038/ng.388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889040PMC
June 2009

Power consequences of linkage disequilibrium variation between populations.

Genet Epidemiol 2009 Feb;33(2):128-35

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/gepi.20366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997478PMC
February 2009

On the usage of HWE for identifying genotyping errors.

Ann Hum Genet 2007 Sep 27;71(Pt 5):701-3; author reply 704. Epub 2007 Mar 27.

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1111/j.1469-1809.2007.00356.xDOI Listing
September 2007

Haplotype homozygosity and derived alleles in the human genome.

Am J Hum Genet 2006 Jun 5;78(6):1053-9. Epub 2006 Apr 5.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, United Kingdom.

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http://dx.doi.org/10.1086/504160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474085PMC
June 2006