Publications by authors named "Alexander J Fay"

3Publications

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

Authors:
Emma M Jenkinson Mathieu P Rodero Paul R Kasher Carolina Uggenti Anthony Oojageer Laurence C Goosey Yoann Rose Christopher J Kershaw Jill E Urquhart Simon G Williams Sanjeev S Bhaskar James O'Sullivan Gabriela M Baerlocher Monika Haubitz Geraldine Aubert Kristin W Barañano Angela J Barnicoat Roberta Battini Andrea Berger Edward M Blair Janice E Brunstrom-Hernandez Johannes A Buckard David M Cassiman Rosaline Caumes Duccio M Cordelli Liesbeth M De Waele Alexander J Fay Patrick Ferreira Nicholas A Fletcher Alan E Fryer Himanshu Goel Cheryl A Hemingway Marco Henneke Imelda Hughes Rosalind J Jefferson Ram Kumar Lieven Lagae Pierre G Landrieu Charles M Lourenço Timothy J Malpas Sarju G Mehta Imke Metz Sakkubai Naidu Katrin Õunap Axel Panzer Prab Prabhakar Gerardine Quaghebeur Raphael Schiffmann Elliott H Sherr Kanaga R Sinnathuray Calvin Soh Helen S Stewart John Stone Hilde Van Esch Christine E G Van Mol Adeline Vanderver Emma L Wakeling Andrea Whitney Graham D Pavitt Sam Griffiths-Jones Gillian I Rice Patrick Revy Marjo S van der Knaap John H Livingston Raymond T O'Keefe Yanick J Crow

Nat Genet 2017 01;49(2):317

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January 2017

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

Authors:
Emma M Jenkinson Mathieu P Rodero Paul R Kasher Carolina Uggenti Anthony Oojageer Laurence C Goosey Yoann Rose Christopher J Kershaw Jill E Urquhart Simon G Williams Sanjeev S Bhaskar James O'Sullivan Gabriela M Baerlocher Monika Haubitz Geraldine Aubert Kristin W Barañano Angela J Barnicoat Roberta Battini Andrea Berger Edward M Blair Janice E Brunstrom-Hernandez Johannes A Buckard David M Cassiman Rosaline Caumes Duccio M Cordelli Liesbeth M De Waele Alexander J Fay Patrick Ferreira Nicholas A Fletcher Alan E Fryer Himanshu Goel Cheryl A Hemingway Marco Henneke Imelda Hughes Rosalind J Jefferson Ram Kumar Lieven Lagae Pierre G Landrieu Charles M Lourenço Timothy J Malpas Sarju G Mehta Imke Metz Sakkubai Naidu Katrin Õunap Axel Panzer Prab Prabhakar Gerardine Quaghebeur Raphael Schiffmann Elliott H Sherr Kanaga R Sinnathuray Calvin Soh Helen S Stewart John Stone Hilde Van Esch Christine E G Van Mol Adeline Vanderver Emma L Wakeling Andrea Whitney Graham D Pavitt Sam Griffiths-Jones Gillian I Rice Patrick Revy Marjo S van der Knaap John H Livingston Raymond T O'Keefe Yanick J Crow

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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October 2016

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Authors:
Bobby G Ng Sergey A Shiryaev Daisy Rymen Erik A Eklund Kimiyo Raymond Martin Kircher Jose E Abdenur Fusun Alehan Alina T Midro Michael J Bamshad Rita Barone Gerard T Berry Jane E Brumbaugh Kati J Buckingham Katie Clarkson F Sessions Cole Shawn O'Connor Gregory M Cooper Rudy Van Coster Laurie A Demmer Luisa Diogo Alexander J Fay Can Ficicioglu Agata Fiumara William A Gahl Rebecca Ganetzky Himanshu Goel Lyndsay A Harshman Miao He Jaak Jaeken Philip M James Daniel Katz Liesbeth Keldermans Maria Kibaek Andrew J Kornberg Katherine Lachlan Christina Lam Joy Yaplito-Lee Deborah A Nickerson Heidi L Peters Valerie Race Luc Régal Jeffrey S Rush S Lane Rutledge Jay Shendure Erika Souche Susan E Sparks Pamela Trapane Amarilis Sanchez-Valle Eric Vilain Arve Vøllo Charles J Waechter Raymond Y Wang Lynne A Wolfe Derek A Wong Tim Wood Amy C Yang Gert Matthijs Hudson H Freeze

Hum Mutat 2016 07 21;37(7):653-60. Epub 2016 Mar 21.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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July 2016