Jan E Liebelt

Affiliations
  • Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
  • Repromed, Dulwich, SA, Australia.

Publications (4)

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

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

Réseau de co-auteurs

Anne O'Donnell-Luria 3 collaborations
Yuyang Chen 2 collaborations
Ruebena Dawes 2 collaborations
Hyung Chul Kim 2 collaborations
Alicia Ljungdahl 2 collaborations
Sarah L Stenton 2 collaborations
Susan Walker 2 collaborations
Jenny Lord 2 collaborations
Gabrielle Lemire 2 collaborations
Vijay S Ganesh 2 collaborations
Jialan Ma 2 collaborations
Jamie M Ellingford 2 collaborations
Elston N D'Souza 2 collaborations
Shan Dong 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
Seema R Lalani 2 collaborations
Elsa Leitão 2 collaborations
Anna Le Fevre 2 collaborations
Richard J Leventer 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
David H Viskochil 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
Nicola Whiffin 2 collaborations
Alicia B Byrne 2 collaborations
Peer Arts 2 collaborations
None None 2 collaborations
Milena Babic 2 collaborations
Jinghua Feng 2 collaborations
Lynette Moore 2 collaborations
Andreas W Schreiber 2 collaborations
Sarah L King-Smith 2 collaborations
Christopher P Barnett 2 collaborations
Hamish S Scott 2 collaborations
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
Thuong T Ha 1 collaboration
Karin S Kassahn 1 collaboration
Lynn S Pais 1 collaboration
Mahalia S B Frank 1 collaboration
Paul Wang 1 collaboration
David M Lawrence 1 collaboration
Leila Eshraghi 1 collaboration
Luis Arriola 1 collaboration
John Toubia 1 collaboration
Hung Nguyen 1 collaboration
George McGillivray 1 collaboration
Jason Pinner 1 collaboration
Fiona McKenzie 1 collaboration
Rebecca Morrow 1 collaboration
Jill Lipsett 1 collaboration
Nick Manton 1 collaboration
T Yee Khong 1 collaboration
Tristan S E Hardy 1 collaboration
Matilda R Jackson 1 collaboration
Shuji Mizumoto 1 collaboration
Patrick Yap 1 collaboration
Kazuyuki Sugahara 1 collaboration
Hatice Mutlu-Albayrak 1 collaboration
Gen Nishimura 1 collaboration
Shuhei Yamada 1 collaboration
Ravi Savarirayan 1 collaboration
Carey-Anne Evans 1 collaboration
Suzanna El Temple 1 collaboration
Joanna Mm Howson 1 collaboration