Laurie Robak

Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.

Publications (3)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

American journal of human genetics

Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Stanislas Lyonnet , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics

Avec: Dongxue Mao , Chloe M Reuter , Maura R Z Ruzhnikov , Anita E Beck , Emily G Farrow , Lisa T Emrick , Jill A Rosenfeld , Katherine M Mackenzie , Laurie Robak , Matthew T Wheeler , Lindsay C Burrage , Mahim Jain , Pengfei Liu , Daniel Calame , Sébastien Küry , Martin Sillesen , Klaus Schmitz-Abe , Davide Tonduti , Luigina Spaccini , Maria Iascone , Casie A Genetti , Mary K Koenig , Madeline Graf , Alyssa Tran , Mercedes Alejandro , Auteur inconnu , Brendan H Lee , Isabelle Thiffault , Pankaj B Agrawal , Jonathan A Bernstein , Hugo J Bellen , Hsiao-Tuan Chao

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

American journal of medical genetics. Part A

Avec: Laura Keehan , Ming-Ming Jiang , Xiaohui Li , Ronit Marom , Hongzheng Dai , David Murdock , Pengfei Liu , Jill V Hunter , Jason D Heaney , Laurie Robak , Lisa Emrick , Timothy Lotze , Lauren S Blieden , Auteur inconnu , Richard Alan Lewis , Alex V Levin , Jenina Capasso , William J Craigen , Jill A Rosenfeld , Brendan Lee , Lindsay C Burrage

Réseau de co-auteurs

None None 4 collaborations

Jill A Rosenfeld 3 collaborations

Sébastien Küry 2 collaborations

Lindsay C Burrage 2 collaborations

Pengfei Liu 2 collaborations

Benjamin Cogné 1 collaboration

Sophie Ehresmann 1 collaboration

Eliane Beauregard-Lacroix 1 collaboration

Justine Rousseau 1 collaboration

Thomas Besnard 1 collaboration

Thomas Garcia 1 collaboration

Slavé Petrovski 1 collaboration

Shiri Avni 1 collaboration

Kirsty McWalter 1 collaboration

Patrick R Blackburn 1 collaboration

Stephan J Sanders 1 collaboration

Kévin Uguen 1 collaboration

Jacqueline Harris 1 collaboration

Julie S Cohen 1 collaboration

Moira Blyth 1 collaboration

Anna Lehman 1 collaboration

Jonathan Berg 1 collaboration

Mindy H Li 1 collaboration

Usha Kini 1 collaboration

Shelagh Joss 1 collaboration

Charlotte von der Lippe 1 collaboration

Christopher T Gordon 1 collaboration

Jennifer B Humberson 1 collaboration

Daryl A Scott 1 collaboration

Vernon R Sutton 1 collaboration

Cara M Skraban 1 collaboration

Jennifer J Johnston 1 collaboration

Annapurna Poduri 1 collaboration

Magnus Nordenskjöld 1 collaboration

Vandana Shashi 1 collaboration

Erica H Gerkes 1 collaboration

Ernie M H F Bongers 1 collaboration

Christian Gilissen 1 collaboration

Yuri A Zarate 1 collaboration

Malin Kvarnung 1 collaboration

Kevin P Lally 1 collaboration

Peggy A Kulch 1 collaboration

Brina Daniels 1 collaboration

Andres Hernandez-Garcia 1 collaboration

Nicholas Stong 1 collaboration

Julie McGaughran 1 collaboration

Kyle Retterer 1 collaboration

Kristian Tveten 1 collaboration

Jennifer Sullivan 1 collaboration

Madeleine R Geisheker 1 collaboration

Asbjorg Stray-Pedersen 1 collaboration

Jennifer M Tarpinian 1 collaboration

Eric W Klee 1 collaboration

Julie C Sapp 1 collaboration

Jacob Zyskind 1 collaboration

Øystein L Holla 1 collaboration

Emma Bedoukian 1 collaboration

Francesca Filippini 1 collaboration

Anne Guimier 1 collaboration

Arnaud Picard 1 collaboration

Øyvind L Busk 1 collaboration

Jaya Punetha 1 collaboration

Rolph Pfundt 1 collaboration

Anna Lindstrand 1 collaboration

Ann Nordgren 1 collaboration

Fayth Kalb 1 collaboration

Megha Desai 1 collaboration

Ashley Harmon Ebanks 1 collaboration

Shalini N Jhangiani 1 collaboration

Tammie Dewan 1 collaboration

Zeynep H Coban Akdemir 1 collaboration

Aida Telegrafi 1 collaboration

Elaine H Zackai 1 collaboration

Amber Begtrup 1 collaboration

Xiaofei Song 1 collaboration

Annick Toutain 1 collaboration

Ingrid M Wentzensen 1 collaboration

Sylvie Odent 1 collaboration

Dominique Bonneau 1 collaboration

Xénia Latypova 1 collaboration

Wallid Deb 1 collaboration

Sylvia Redon 1 collaboration

Frédéric Bilan 1 collaboration

Marine Legendre 1 collaboration

Caitlin Troyer 1 collaboration

Kerri Whitlock 1 collaboration

Oana Caluseriu 1 collaboration

Marine I Murphree 1 collaboration

Pavel N Pichurin 1 collaboration

Katherine Agre 1 collaboration

Ralitza Gavrilova 1 collaboration

Tuula Rinne 1 collaboration

Meredith Park 1 collaboration

Catherine Shain 1 collaboration

Erin L Heinzen 1 collaboration

Rui Xiao 1 collaboration

Jeanne Amiel 1 collaboration

Stanislas Lyonnet 1 collaboration

Bertrand Isidor 1 collaboration

Leslie G Biesecker 1 collaboration

Dan Lowenstein 1 collaboration

Jennifer E Posey 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Claude Férec 1 collaboration

Xiang-Jiao Yang 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Richard Redon 1 collaboration

Holly A F Stessman 1 collaboration

Christoffer Nellaker 1 collaboration

Yaping Yang 1 collaboration

James R Lupski 1 collaboration

David B Goldstein 1 collaboration

Evan E Eichler 1 collaboration

Francois Bolduc 1 collaboration

Stéphane Bézieau 1 collaboration

Philippe M Campeau 1 collaboration

Dongxue Mao 1 collaboration

Chloe M Reuter 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Anita E Beck 1 collaboration

Emily G Farrow 1 collaboration

Lisa T Emrick 1 collaboration

Katherine M Mackenzie 1 collaboration

Matthew T Wheeler 1 collaboration

Mahim Jain 1 collaboration

Daniel Calame 1 collaboration

Martin Sillesen 1 collaboration

Klaus Schmitz-Abe 1 collaboration

Davide Tonduti 1 collaboration

Luigina Spaccini 1 collaboration

Maria Iascone 1 collaboration

Casie A Genetti 1 collaboration

Mary K Koenig 1 collaboration

Madeline Graf 1 collaboration

Alyssa Tran 1 collaboration

Mercedes Alejandro 1 collaboration

Brendan H Lee 1 collaboration

Isabelle Thiffault 1 collaboration

Pankaj B Agrawal 1 collaboration

Jonathan A Bernstein 1 collaboration

Hugo J Bellen 1 collaboration

Hsiao-Tuan Chao 1 collaboration

Laura Keehan 1 collaboration

Ming-Ming Jiang 1 collaboration

Xiaohui Li 1 collaboration

Ronit Marom 1 collaboration

Hongzheng Dai 1 collaboration

David Murdock 1 collaboration

Jill V Hunter 1 collaboration

Jason D Heaney 1 collaboration

Lisa Emrick 1 collaboration

Timothy Lotze 1 collaboration

Lauren S Blieden 1 collaboration

Richard Alan Lewis 1 collaboration

Alex V Levin 1 collaboration

Jenina Capasso 1 collaboration

William J Craigen 1 collaboration

Brendan Lee 1 collaboration