Researcher
Jeremy Schwartzentruber
European Bioinformatics Institute
Statistics
86 papers found
Papers authored by Jeremy Schwartzentruber
Refreshing results…
2014
Hilde van Esch,
Nienke Verbeek,
Dagmar Wieczorek,
Dobyns Wb,
Mirzaa Gm,
Ghayda M. Mirzaa,
David A. Parry 
,
Giamanco Ka,
Kristin A. Giamanco,
Stanislav S. Kholmanskikh,
Kholmanskikh Ss,
Jeremy Schwartzentruber ,
Rebecca D. Hodge,
Hodge Rd,
Megan Vanstone
and 40 other authors
Download from www.ncbi.nlm.nih.gov
,
Giamanco Ka,
Kristin A. Giamanco,
Stanislav S. Kholmanskikh,
Kholmanskikh Ss,
Jeremy Schwartzentruber ,
Rebecca D. Hodge,
Hodge Rd,
Megan Vanstone
and 40 other authors
Download from www.ncbi.nlm.nih.gov
Adam M. Fontebasso,
Simon Papillon-Cavanagh,
Jeremy Schwartzentruber ,
Hamid Nikbakht,
Noha Gerges,
Pierre-Olivier Fiset,
Denise Bechet,
Damien Faury,
Nicolas De Jay,
Lori A. Ramkissoon,
Aoife Corcoran,
David T. W. Jones,
Dominik Sturm ,
Pascal Johann,
Tadanori Tomita
and 34 other authors
,
Hamid Nikbakht,
Noha Gerges,
Pierre-Olivier Fiset,
Denise Bechet,
Damien Faury,
Nicolas De Jay,
Lori A. Ramkissoon,
Aoife Corcoran,
David T. W. Jones,
Dominik Sturm ,
Pascal Johann,
Tadanori Tomita
and 34 other authors
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Download from www.nature.com
Xiaoyang Liu,
Troy A. McEachron,
Jeremy Schwartzentruber ,
Gang Wu
,
Gang Wu
Histone H3 Mutations in Pediatric Brain Tumors
Download from cshperspectives.cshlp.org
Hugh J. McMillan,
Jeremy Schwartzentruber ,
Amanda Smith,
Suzie Lee,
Pranesh Chakraborty,
Dennis E. Bulman,
Chandree L. Beaulieu,
Jacek Majewski,
Kym M. Boycott,
Michael T. Geraghty
Download from dx.doi.org
,
Amanda Smith,
Suzie Lee,
Pranesh Chakraborty,
Dennis E. Bulman,
Chandree L. Beaulieu,
Jacek Majewski,
Kym M. Boycott,
Michael T. Geraghty
Download from dx.doi.org
Laura M. McDonell,
McDonell Lm,
Jodi Warman Chardon,
Jodi Warman Chardon,
Jeremy Schwartzentruber ,
Denise Foster,
Beaulieu Cl,
Chandree L. Beaulieu,
Canada Consortium Forge,
Jacek Majewski,
Bulman De,
Dennis E. Bulman,
Kym M. Boycott,
Boycott Km
,
Denise Foster,
Beaulieu Cl,
Chandree L. Beaulieu,
Canada Consortium Forge,
Jacek Majewski,
Bulman De,
Dennis E. Bulman,
Kym M. Boycott,
Boycott Km
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
Download from dx.doi.org
Ranad Shaheen,
Hanan E. Shamseldin,
Catrina M. Loucks,
Mohammed Zain Seidahmed,
Shinu Ansari,
Mohamed Ibrahim Khalil,
Mohamed Ibrahim Khalil,
Nadya Al-Yacoub,
Erica E. Davis,
Natalie A. Mola,
Katarzyna Szymanska,
Warren Herridge,
Albert E. Chudley,
Bernard N. Chodirker,
Jeremy Schwartzentruber
and 9 other authors
Download from doi.org
and 9 other authors
Download from doi.org
Sawyer Sl,
Sarah L. Sawyer,
Jeremy Schwartzentruber ,
Beaulieu Cl,
Chandree L. Beaulieu,
David Dyment,
Amanda Smith,
J. Warman Chardon,
Jodi Warman Chardon,
Grace Yoon,
Rouleau Ga,
Guy A. Rouleau,
Oksana Suchowersky,
Victoria Siu,
Lisa Murphy
and 11 other authors
,
Beaulieu Cl,
Chandree L. Beaulieu,
David Dyment,
Amanda Smith,
J. Warman Chardon,
Jodi Warman Chardon,
Grace Yoon,
Rouleau Ga,
Guy A. Rouleau,
Oksana Suchowersky,
Victoria Siu,
Lisa Murphy
and 11 other authors
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Download from onlinelibrary.wiley.com
Catherine A. Brownstein,
Alan H. Beggs,
Nils Homer,
Barry Merriman,
Timothy W. Yu,
Katherine C. Flannery,
Elizabeth T. DeChene,
Meghan C. Towne,
Sarah K. Savage,
Emily N. Price,
Ingrid A. Holm,
Lovelace J. Luquette,
Elaine Lyon,
Joseph Majzoub,
Peter Neupert
and 194 other authors
Download from dx.doi.org
2013
Ioanna Tachmazidou,
George Dedoussis,
Lorraine Southam,
Farmaki Ae,
Aliki-Eleni Farmaki,
Ritchie Gr,
Graham R. S. Ritchie,
Xifara Dk,
Dionysia K. Xifara,
Angela Matchan,
Konstantinos Hatzikotoulas,
Rayner Nw,
Nigel W. Rayner,
Yuan Chen,
Pollin Ti
and 15 other authors
Download from dx.doi.org
Claudia L. Kleinman,
Noha Gerges,
Simon Papillon-Cavanagh,
Patrick Sin-Chan,
Albena Pramatarova,
Dong-Anh Khuong Quang,
Véronique Adoue,
Stephan Busche,
Maxime Caron,
Haig Djambazian,
Amandine Bemmo,
Adam M. Fontebasso,
Tara Spence,
Jeremy Schwartzentruber ,
Steffen Albrecht
and 27 other authors
Download from www.researchgate.net
,
Steffen Albrecht
and 27 other authors
Download from www.researchgate.net
Grégory Caignard,
Gabriel A. Leiva-Torres,
Michael Leney-Greene,
Benoit Charbonneau,
Anne Dumaine,
Nassima Fodil-Cornu,
Michal Pyzik,
Pablo Cingolani,
Jeremy Schwartzentruber ,
Jeremy Dupaul-Chicoine,
Huaijian Guo,
Maya Saleh,
André Veillette,
Marc Lathrop,
Mathieu Blanchette
and 3 other authors
Download from dx.doi.org
,
Jeremy Dupaul-Chicoine,
Huaijian Guo,
Maya Saleh,
André Veillette,
Marc Lathrop,
Mathieu Blanchette
and 3 other authors
Download from dx.doi.org
Rg G. Coussa,
Ea A. Otto,
Heon-Yung Gee,
Paul Arthurs,
Huanan Ren,
Irma Lopez,
Vafa Keser,
Qing Fu,
Ricardo Faingold,
Ayesha Khan,
Jeremy Schwartzentruber ,
Jacek Majewski,
Friedhelm Hildebrandt,
F. Hildebrandtand,
Rk K. Koenekoop
Download from onlinelibrary.wiley.com
,
Jacek Majewski,
Friedhelm Hildebrandt,
F. Hildebrandtand,
Rk K. Koenekoop
Download from onlinelibrary.wiley.com
Marcadier Jl,
Julien L. Marcadier,
Amanda M. Smith,
Ronald Ja Wanders,
Smith Am,
Daniela Pohl,
Jeremy Schwartzentruber ,
Al Dirbashi Oy,
Osama Y. Al-Dirbashi,
Canada Consortium Forge,
Jacek Majewski,
Sacha Ferdinandusse,
Wanders Rj,
Dennis E. Bulman,
Bulman De
and 5 other authors
Download from dx.doi.org
,
Al Dirbashi Oy,
Osama Y. Al-Dirbashi,
Canada Consortium Forge,
Jacek Majewski,
Sacha Ferdinandusse,
Wanders Rj,
Dennis E. Bulman,
Bulman De
and 5 other authors
Download from dx.doi.org
David A. Dyment,
Amanda C. Smith,
Diana Alcantara,
Jeremy A. Schwartzentruber ,
Lina Basel-Vanagaite,
Cynthia J. Curry,
I. Karen Temple,
I. Karen Temple,
William Reardon,
Sahar Mansour,
Mushfequr R. Haq,
Rodney Gilbert,
Ordan J. Lehmann,
Megan R. Vanstone,
Chandree L. Beaulieu
and 6 other authors
,
Lina Basel-Vanagaite,
Cynthia J. Curry,
I. Karen Temple,
I. Karen Temple,
William Reardon,
Sahar Mansour,
Mushfequr R. Haq,
Rodney Gilbert,
Ordan J. Lehmann,
Megan R. Vanstone,
Chandree L. Beaulieu
and 6 other authors
Mutations in PIK3R1 Cause SHORT Syndrome
Download from www.ncbi.nlm.nih.gov
Despina Moshous,
Geneviève de Saint Basile,
Emmanuel Martin,
Fernando E. Sepulveda,
Wassila Carpentier,
Annick Lim,
Franck Debeurme,
Isabelle Callebaut,
Danielle Canioni,
Fabian Hauck,
Gaël Ménasché,
Jacek Majewski,
Jeremy Schwartzentruber ,
Jean-Pierre de Villartay,
Mathieu Kurowska
and 12 other authors
Download from doi.org
,
Jean-Pierre de Villartay,
Mathieu Kurowska
and 12 other authors
Download from doi.org
Yee Him Cheung,
Tenzin Gayden,
Philippe M. Campeau ,
Charles A. Leduc,
Donna Russo,
Van-Hung Nguyen,
Jiancheng Guo,
Ming Qi,
Yanfang Guan,
Steffen Albrecht,
Brenda Moroz,
Karen W. Eldin,
James T. Lu,
Jeremy Schwartzentruber ,
David Malkin
and 10 other authors
,
Charles A. Leduc,
Donna Russo,
Van-Hung Nguyen,
Jiancheng Guo,
Ming Qi,
Yanfang Guan,
Steffen Albrecht,
Brenda Moroz,
Karen W. Eldin,
James T. Lu,
Jeremy Schwartzentruber ,
David Malkin
and 10 other authors
A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
Download from www.researchgate.net
Beaulieu Cl,
Chandree L. Beaulieu,
Lijia Huang,
Innes Am,
A. Micheil Innes,
Akimenko Ma,
Marie-Andree Akimenko,
Puffenberger Eg,
Erik G. Puffenberger,
Charles Schwartz,
Paul Jerry,
Carole Ober,
Hegele Ra,
Robert A. Hegele,
McLeod Dr
and 10 other authors
Intellectual disability associated with a homozygous missense mutation in THOC6
Download from dx.doi.orgMissing publications? Search for publications with a matching author name.