David H Viskochil

Affiliations
  • Department of Pediatrics, Division of Medical Genetics, The University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
  • Shriners Hospital for Children, Salt Lake City, UT 84112, USA.

Publications (9)

medRxiv : the preprint server for health sciences
Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Sarah L Stenton , Susan Walker , Alicia Ljungdahl , Jenny Lord , Vijay S Ganesh , Jialan Ma , Alexandra C Martin-Geary , Gabrielle Lemire , Elston N D'Souza , Shan Dong , Jamie M Ellingford , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Carey-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Christina L Grant , Tobias Haack , Alma Kuechler , Seema R Lalani , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Taylor M Maurer , Hector R Mendez , Stephen B Montgomery , Marie-Cécile Nassogne , Serena Neumann , Melanie O'Leary , Elizabeth E Palmer , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Tiong Yang Tan , Natalie B Tan , Suzanna El Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna Mm Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature
Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Alicia Ljungdahl , Sarah L Stenton , Susan Walker , Jenny Lord , Gabrielle Lemire , Alexandra C Martin-Geary , Vijay S Ganesh , Jialan Ma , Jamie M Ellingford , Erwan Delage , Elston N D'Souza , Shan Dong , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Ishita Bhatnagar , Ed Blair , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , David J Coman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Petr Danecek , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Frances Elmslie , Care-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Anne Goriely , Christina L Grant , Tobias Haack , Jenny E Higgs , Anjali G Hinch , Matthew E Hurles , Alma Kuechler , Katherine L Lachlan , Seema R Lalani , François Lecoquierre , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Sarah Lindsay , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Sahar Mansour , Taylor M Maurer , Hector R Mendez , Kay Metcalfe , Stephen B Montgomery , Mariya Moosajee , Marie-Cécile Nassogne , Serena Neumann , Michael O'Donoghue , Melanie O'Leary , Elizabeth E Palmer , Nikhil Pattani , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Charles J Shaw-Smith , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Helen S Stewart , Tiong Yang Tan , Natalie B Tan , Suzanna E L Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Pradeep Vasudevan , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Caroline F Wright , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna M M Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

Réseau de co-auteurs

Seema R Lalani 3 collaborations
None None 3 collaborations
Yuyang Chen 2 collaborations
Ruebena Dawes 2 collaborations
Hyung Chul Kim 2 collaborations
Sarah L Stenton 2 collaborations
Susan Walker 2 collaborations
Alicia Ljungdahl 2 collaborations
Jenny Lord 2 collaborations
Vijay S Ganesh 2 collaborations
Jialan Ma 2 collaborations
Gabrielle Lemire 2 collaborations
Elston N D'Souza 2 collaborations
Shan Dong 2 collaborations
Jamie M Ellingford 2 collaborations
David R Adams 2 collaborations
Kirsten Allan 2 collaborations
Madhura Bakshi 2 collaborations
Erin E Baldwin 2 collaborations
Seth I Berger 2 collaborations
Jonathan A Bernstein 2 collaborations
Natasha J Brown 2 collaborations
Lindsay C Burrage 2 collaborations
Kimberly Chapman 2 collaborations
Alison G Compton 2 collaborations
Chloe A Cunningham 2 collaborations
Precilla D'Souza 2 collaborations
Emmanuèle C Délot 2 collaborations
Kerith-Rae Dias 2 collaborations
Ellen R Elias 2 collaborations
Lisa Ewans 2 collaborations
Kimberly Ezell 2 collaborations
Jamie L Fraser 2 collaborations
Lyndon Gallacher 2 collaborations
Casie A Genetti 2 collaborations
Christina L Grant 2 collaborations
Tobias Haack 2 collaborations
Alma Kuechler 2 collaborations
Elsa Leitão 2 collaborations
Anna Le Fevre 2 collaborations
Richard J Leventer 2 collaborations
Jan E Liebelt 2 collaborations
Paul J Lockhart 2 collaborations
Alan S Ma 2 collaborations
Ellen F Macnamara 2 collaborations
Taylor M Maurer 2 collaborations
Hector R Mendez 2 collaborations
Stephen B Montgomery 2 collaborations
Marie-Cécile Nassogne 2 collaborations
Serena Neumann 2 collaborations
Melanie O'Leary 2 collaborations
Elizabeth E Palmer 2 collaborations
John Phillips 2 collaborations
Georgia Pitsava 2 collaborations
Ryan Pysar 2 collaborations
Heidi L Rehm 2 collaborations
Chloe M Reuter 2 collaborations
Nicole Revencu 2 collaborations
Angelika Riess 2 collaborations
Rocio Rius 2 collaborations
Lance Rodan 2 collaborations
Tony Roscioli 2 collaborations
Jill A Rosenfeld 2 collaborations
Rani Sachdev 2 collaborations
Cas Simons 2 collaborations
Sanjay M Sisodiya 2 collaborations
Penny Snell 2 collaborations
Laura St Clair 2 collaborations
Zornitza Stark 2 collaborations
Tiong Yang Tan 2 collaborations
Natalie B Tan 2 collaborations
David R Thorburn 2 collaborations
Cynthia J Tifft 2 collaborations
Eloise Uebergang 2 collaborations
Grace E VanNoy 2 collaborations
Eric Vilain 2 collaborations
Laura Wedd 2 collaborations
Matthew T Wheeler 2 collaborations
Susan M White 2 collaborations
Monica Wojcik 2 collaborations
Lynne A Wolfe 2 collaborations
Zoe Wolfenson 2 collaborations
Changrui Xiao 2 collaborations
David Zocche 2 collaborations
John L Rubenstein 2 collaborations
Sebastian M Fica 2 collaborations
Diana Baralle 2 collaborations
Christel Depienne 2 collaborations
Daniel G MacArthur 2 collaborations
Stephan J Sanders 2 collaborations
Anne O'Donnell-Luria 2 collaborations
Nicola Whiffin 2 collaborations
Nicole J Ullrich 2 collaborations
Sanjay P Prabhu 2 collaborations
Stewart Goldman 2 collaborations
Nathan J Robison 2 collaborations
Jeffrey C Allen 2 collaborations
David H Gutmann 2 collaborations
John P Perentesis 2 collaborations
Michael J Fisher 2 collaborations
Mark W Kieran 2 collaborations
Elizabeth Roof 1 collaboration
Cheri L Deal 1 collaboration
Shawn E McCandless 1 collaboration
Ronald L Cowan 1 collaboration
Jennifer L Miller 1 collaboration
Jill K Hamilton 1 collaboration
Elizabeth R Roeder 1 collaboration
Shana E McCormack 1 collaboration
Tamanna R Roshan Lal 1 collaboration
Hussein D Abdul-Latif 1 collaboration
Andrea M Haqq 1 collaboration
Kathryn S Obrynba 1 collaboration
Laura C Torchen 1 collaboration
Alaina P Vidmar 1 collaboration
Jean-Pierre Chanoine 1 collaboration
Carol K L Lam 1 collaboration
Melinda J Pierce 1 collaboration
Laurel L Williams 1 collaboration
Lynne M Bird 1 collaboration
Merlin G Butler 1 collaboration
Diane E Jensen 1 collaboration
Susan E Myers 1 collaboration
Oliver J Oatman 1 collaboration
Charumathi Baskaran 1 collaboration
Laura J Chalmers 1 collaboration
Cary Fu 1 collaboration
Nathalie Alos 1 collaboration
Scott D McLean 1 collaboration
Ajay Shah 1 collaboration
Barbara Y Whitman 1 collaboration
Brent A Blumenstein 1 collaboration
Sarah F Leonard 1 collaboration
Jessica P Ernest 1 collaboration
Joseph W Cormier 1 collaboration
Sara P Cotter 1 collaboration
Davis C Ryman 1 collaboration
Carey-Anne Evans 1 collaboration
Suzanna El Temple 1 collaboration
Joanna Mm Howson 1 collaboration
Raphael Carapito 1 collaboration
Ekaterina L Ivanova 1 collaboration
Aurore Morlon 1 collaboration
Linyan Meng 1 collaboration
Anne Molitor 1 collaboration
Eva Erdmann 1 collaboration
Bruno Kieffer 1 collaboration
Angélique Pichot 1 collaboration
Lydie Naegely 1 collaboration
Aline Kolmer 1 collaboration
Nicodème Paul 1 collaboration
Antoine Hanauer 1 collaboration
Nolwenn Jean-Marçais 1 collaboration
Susan M Hiatt 1 collaboration
Gregory M Cooper 1 collaboration
Tatiana Tvrdik 1 collaboration
Alison M Muir 1 collaboration
Clémantine Dimartino 1 collaboration
Maya Chopra 1 collaboration
Jeanne Amiel 1 collaboration
Christopher T Gordon 1 collaboration
Fabien Dutreux 1 collaboration
Aurore Garde 1 collaboration
Xia Wang 1 collaboration
Magalie S Leduc 1 collaboration
Meredith Phillips 1 collaboration
Heather P Crawford 1 collaboration
Mary K Kukolich 1 collaboration
David Hunt 1 collaboration
Victoria Harrison 1 collaboration
Mira Kharbanda 1 collaboration
Robert Smigiel 1 collaboration
Nina Gold 1 collaboration
Christina Y Hung 1 collaboration
Sarah L Dugan 1 collaboration
Pinar Bayrak-Toydemir 1 collaboration
Géraldine Joly-Helas 1 collaboration
Anne-Marie Guerrot 1 collaboration
Marlène Rio 1 collaboration
Ingrid M Wentzensen 1 collaboration
Kirsty McWalter 1 collaboration
Rhonda E Schnur 1 collaboration
Andrea M Lewis 1 collaboration
Noël Mensah-Bonsu 1 collaboration
Jocelyn Céraline 1 collaboration
Zijie Sun 1 collaboration
Rafal Ploski 1 collaboration
Carlos A Bacino 1 collaboration
Heather C Mefford 1 collaboration
Laurence Faivre 1 collaboration
Olaf Bodamer 1 collaboration
Jamel Chelly 1 collaboration
Bertrand Isidor 1 collaboration
Seiamak Bahram 1 collaboration
Erwan Delage 1 collaboration
Ishita Bhatnagar 1 collaboration
Ed Blair 1 collaboration
David J Coman 1 collaboration
Petr Danecek 1 collaboration
Frances Elmslie 1 collaboration
Care-Anne Evans 1 collaboration
Anne Goriely 1 collaboration
Jenny E Higgs 1 collaboration
Anjali G Hinch 1 collaboration
Matthew E Hurles 1 collaboration
Katherine L Lachlan 1 collaboration
François Lecoquierre 1 collaboration
Sarah Lindsay 1 collaboration
Sahar Mansour 1 collaboration
Kay Metcalfe 1 collaboration
Mariya Moosajee 1 collaboration
Michael O'Donoghue 1 collaboration
Nikhil Pattani 1 collaboration
Charles J Shaw-Smith 1 collaboration
Helen S Stewart 1 collaboration
Suzanna E L Temple 1 collaboration
Pradeep Vasudevan 1 collaboration
Caroline F Wright 1 collaboration
Joanna M M Howson 1 collaboration
Roger J Packer 1 collaboration
Bruce R Korf 1 collaboration
Charles E Schwartz 1 collaboration
Arthur S Aylsworth 1 collaboration
Judith Allanson 1 collaboration
Agatino Battaglia 1 collaboration
John C Carey 1 collaboration
Cynthia J Curry 1 collaboration
Kay E Davies 1 collaboration
Evan E Eichler 1 collaboration
John M Graham 1 collaboration
Bryan Hall 1 collaboration
Judith G Hall 1 collaboration
Lewis B Holmes 1 collaboration
H Eugene Hoyme 1 collaboration
Alasdair Hunter 1 collaboration
Jeffrey Innis 1 collaboration
John Johnson 1 collaboration
Kim M Keppler-Noreuil 1 collaboration
Jules G Leroy 1 collaboration
Cynthia Moore 1 collaboration
David L Nelson 1 collaboration
Giovanni Neri 1 collaboration
John M Opitz 1 collaboration
David Picketts 1 collaboration
F Lucy Raymond 1 collaboration
Stavit Allon Shalev 1 collaboration
Roger E Stevenson 1 collaboration
Connie T R M Stumpel 1 collaboration
Grant Sutherland 1 collaboration
David D Weaver 1 collaboration
Elaine H Zackai 1 collaboration
Douglas L Brockmeyer 1 collaboration
Samuel H Cheshier 1 collaboration
Jeff Stevens 1 collaboration
Julio C Facelli 1 collaboration
Kerry Rowe 1 collaboration
John D Heiss 1 collaboration
Anthony Musolf 1 collaboration
Kristina L Allen-Brady 1 collaboration
Lisa A Cannon-Albright 1 collaboration
Alyssa T Reddy 1 collaboration
Roger Packer 1 collaboration
Bruce Korf 1 collaboration
Alan Cantor 1 collaboration
Gary Cutter 1 collaboration
Coretta Thomas 1 collaboration
Tomoyuki Mizuno 1 collaboration
Alexander A Vinks 1 collaboration
Peter E Manley 1 collaboration
Susan N Chi 1 collaboration
Rebecca L Margraf 1 collaboration
Chad VanSant-Webb 1 collaboration
Rong Mao 1 collaboration
John Carey 1 collaboration
Heather Hanson 1 collaboration
Jacques D'Astous 1 collaboration
Allie Grossmann 1 collaboration
David A Stevenson 1 collaboration