De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Kury; Thomas Besnard; Frédéric Ebstein; Tahir Khan; Tomasz Gambin; Jessica Douglas; Carlos Bacino; William Craigen; Stephan Sanders; Andrea Lehmann; Xenia Latypova; Kamal Khan; Mathilde Pacault; Stephanie Sacharow; Kimberly Glaser; Eric Bieth; Laurence Perrin-Sabourin; Marie-Line Jacquemont; Megan Cho; Elizabeth Roeder; Anne-Sophie Denommé-Pichon; Kristin Monaghan; Bo Yuan; Fan Xia; Sylvain Simon; Dominique Bonneau; Philippe Parent; Brigitte Gilbert-Dussardier; Sylvie Odent; Annick Toutain; Laurent Pasquier; Deborah Barbouth; Chad Shaw; Ankita Patel; Janice Smith; Weimin Bi; Sébastien Schmitt; Wallid Deb; Mathilde Nizon; Sandra Mercier; Marie Vincent; Caroline Rooryck; Valérie MALAN; Ignacio Briceño; Alberto Gómez; Kimberly Nugent; James Gibson; Benjamin Cogné; James Lupski; Holly Stessman; Evan Eichler; Kyle Retterer; Yaping Yang; Richard Redon; Nicholas Katsanis; Jill Rosenfeld; Peter-Michael Kloetzel; Christelle Golzio; Stéphane Bezieau; Paweł Stankiewicz; Bertrand Isidor

doi:10.1016/j.ajhg.2017.03.003

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Journal article

Open access

Peer reviewed

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Kury, Thomas Besnard, Frédéric Ebstein, Tahir Khan, Tomasz Gambin, Jessica Douglas, Carlos Bacino, William Craigen, Stephan Sanders, Andrea Lehmann, …

American journal of human genetics, Vol.100(4), pp.689-689

2017

DOI: https://doi.org/10.1016/j.ajhg.2017.03.003

PMCID: PMC5384094

PMID: 28388435

Abstract

Life Sciences

Human health and pathology

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https://doi.org/10.1016/j.ajhg.2017.03.003View

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Citation topics: 1 Clinical & Life Sciences; 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis; 1.25.782 Proteasome
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Creators: Sébastien Kury
Thomas Besnard
Frédéric Ebstein
Tahir Khan
Tomasz Gambin
Jessica Douglas
Carlos Bacino
William Craigen
Stephan Sanders
Andrea Lehmann
Xenia Latypova
Kamal Khan
Mathilde Pacault
Stephanie Sacharow
Kimberly Glaser
Eric Bieth
Laurence Perrin-Sabourin
Marie-Line Jacquemont
Megan Cho
Elizabeth Roeder
Anne-Sophie Denommé-Pichon
Kristin Monaghan
Bo Yuan
Fan Xia
Sylvain Simon
Dominique Bonneau - Physiopathologie Cardiovasculaire et Mitochondriale
Philippe Parent
Brigitte Gilbert-Dussardier
Sylvie Odent
Annick Toutain
Laurent Pasquier
Deborah Barbouth
Chad Shaw
Ankita Patel
Janice Smith
Weimin Bi
Sébastien Schmitt
Wallid Deb
Mathilde Nizon
Sandra Mercier
Marie Vincent
Caroline Rooryck
Valérie MALAN
Ignacio Briceño
Alberto Gómez
Kimberly Nugent
James Gibson
Benjamin Cogné
James Lupski
Holly Stessman
Evan Eichler
Kyle Retterer
Yaping Yang
Richard Redon
Nicholas Katsanis
Jill Rosenfeld
Peter-Michael Kloetzel
Christelle Golzio
Stéphane Bezieau
Paweł Stankiewicz
Bertrand Isidor
Publication Details: American journal of human genetics, Vol.100(4), pp.689-689
Publisher: Elsevier (Cell Press)
Academic Unit: Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 28388435
PMCID: PMC5384094
Record Identifier: 991031599793002976