Publications by authors named "Erin Beaver"

6Publications

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Authors:
Jonathan Humbert Smrithi Salian Periklis Makrythanasis Gabrielle Lemire Justine Rousseau Sophie Ehresmann Thomas Garcia Rami Alasiri Armand Bottani Sylviane Hanquinet Erin Beaver Jennifer Heeley Ann C M Smith Seth I Berger Stylianos E Antonarakis Xiang-Jiao Yang Jacques Côté Philippe M Campeau

Am J Hum Genet 2020 09 20;107(3):564-574. Epub 2020 Aug 20.

Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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September 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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July 2020

Mobile element insertion detection in 89,874 clinical exomes.

Authors:
Rebecca I Torene Kevin Galens Shuxi Liu Kevin Arvai Carlos Borroto Julie Scuffins Zhancheng Zhang Bethany Friedman Hana Sroka Jennifer Heeley Erin Beaver Lorne Clarke Sarah Neil Jagdeep Walia Danna Hull Jane Juusola Kyle Retterer

Genet Med 2020 05 22;22(5):974-978. Epub 2020 Jan 22.

GeneDx, Gaithersburg, MD, USA.

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May 2020

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Authors:
Matthias Baumann Erin M Beaver María Palomares-Bralo Fernando Santos-Simarro Peter Holzer Gundula Povysil Thomas Müller Taras Valovka Andreas R Janecke

Hum Mutat 2020 04 16;41(4):753-758. Epub 2020 Jan 16.

Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

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April 2020

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

Authors:
Janson J White Juliana F Mazzeu Zeynep Coban-Akdemir Yavuz Bayram Vahid Bahrambeigi Alexander Hoischen Bregje W M van Bon Alper Gezdirici Elif Yilmaz Gulec Francis Ramond Renaud Touraine Julien Thevenon Marwan Shinawi Erin Beaver Jennifer Heeley Julie Hoover-Fong Ceren D Durmaz Halil Gurhan Karabulut Ebru Marzioglu-Ozdemir Atilla Cayir Mehmet B Duz Mehmet Seven Susan Price Barbara Merfort Ferreira Angela M Vianna-Morgante Sian Ellard Andrew Parrish Karen Stals Josue Flores-Daboub Shalini N Jhangiani Richard A Gibbs Han G Brunner V Reid Sutton James R Lupski Claudia M B Carvalho

Am J Hum Genet 2018 01 21;102(1):27-43. Epub 2017 Dec 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA. Electronic address:

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January 2018

Missense variants in the chromatin remodeler are associated with neurodevelopmental disability.

Authors:
Genay O Pilarowski Hilary J Vernon Carolyn D Applegate Leandros Boukas Megan T Cho Christina A Gurnett Paul J Benke Erin Beaver Jennifer M Heeley Livija Medne Ian D Krantz Meron Azage Dmitriy Niyazov Lindsay B Henderson Ingrid M Wentzensen Berivan Baskin Maria J Guillen Sacoto Gregory D Bowman Hans T Bjornsson

J Med Genet 2018 08 2;55(8):561-566. Epub 2017 Sep 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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August 2018