Researcher
Jeremy Schwartzentruber
European Bioinformatics Institute
Statistics
88 papers found
Papers authored by Jeremy Schwartzentruber
Refreshing results…
2013
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
,
Hegele Ra,
Robert A. Hegele,
McLeod Dr
and 10 other authors
Intellectual disability associated with a homozygous missense mutation in THOC6
Download from link.springer.com
McDonell Lm,
Laura M. McDonell,
Mirzaa Gm,
Ghayda M. Mirzaa,
Diana Alcantara,
Jeremy Schwartzentruber ,
Carter Mt,
Melissa T. Carter,
Lee Lj,
Leo J. Lee,
Clericuzio Cl,
Carol L. Clericuzio,
Graham Jm,
John M. Graham,
Morris Rosendahl Dj
and 31 other authors
Download from www.ncbi.nlm.nih.gov
,
Carter Mt,
Melissa T. Carter,
Lee Lj,
Leo J. Lee,
Clericuzio Cl,
Carol L. Clericuzio,
Graham Jm,
John M. Graham,
Morris Rosendahl Dj
and 31 other authors
Download from www.ncbi.nlm.nih.gov
Adam M. Fontebasso,
Jeremy Schwartzentruber ,
Dong-Anh Khuong-Quang,
Xiao-Yang Liu,
Dominik Sturm ,
Andrey Korshunov,
David T. W. Jones,
Hendrik Witt,
Marcel Kool,
Steffen Albrecht,
Adam Fleming,
Djihad Hadjadj,
Stephan Busche,
Pierre Lepage,
Alexandre Montpetit
and 15 other authors
Download from link.springer.com
,
Dong-Anh Khuong-Quang,
Xiao-Yang Liu,
Dominik Sturm ,
Andrey Korshunov,
David T. W. Jones,
Hendrik Witt,
Marcel Kool,
Steffen Albrecht,
Adam Fleming,
Djihad Hadjadj,
Stephan Busche,
Pierre Lepage,
Alexandre Montpetit
and 15 other authors
Download from link.springer.com
Pierre Moffatt,
Mouna Ben Amor,
Mouna Ben Amor,
Francis H. Glorieux,
Paul Roschger,
Klaus Klaushofer,
Jeremy A. Schwartzentruber ,
Andrew D. Paterson,
Pingzhao Hu,
Christian Marshall,
Somayyeh Fahiminiya,
Jacek Majewski,
Chandree L. Beaulieu,
Kym M. Boycott,
Frank Rauch
Download from www.ncbi.nlm.nih.gov
,
Andrew D. Paterson,
Pingzhao Hu,
Christian Marshall,
Somayyeh Fahiminiya,
Jacek Majewski,
Chandree L. Beaulieu,
Kym M. Boycott,
Frank Rauch
Download from www.ncbi.nlm.nih.gov
Samuels Me,
N. Gallo Payet,
S. Pinard,
C. Hasselmann,
F. Magne,
L. Patry,
L. Chouinard,
J. Schwartzentruber ,
P. René,
N. Sawyer,
M. Bouvier,
A. Djemli,
E. Delvin,
C. Huot,
D. Eugene
and 5 other authors
,
P. René,
N. Sawyer,
M. Bouvier,
A. Djemli,
E. Delvin,
C. Huot,
D. Eugene
and 5 other authors
Bioinactive ACTH causing glucocorticoid deficiency.
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Lance Doucette,
Jane Green,
Coleman Black,
Jeremy Schwartzentruber ,
Gordon J. Johnson,
Dante Galutira,
Terry-Lynn Young
Download from www.researchgate.net
,
Gordon J. Johnson,
Dante Galutira,
Terry-Lynn Young
Download from www.researchgate.net
Dong-Anh Khuong-Quang,
Jeremy Schwartzentruber ,
Mark Westerman,
Pierre Lepage,
Karin E. Finberg,
Jacek Majewski,
Nada Jabado
Download from publications.aap.org
,
Mark Westerman,
Pierre Lepage,
Karin E. Finberg,
Jacek Majewski,
Nada Jabado
Download from publications.aap.org
Huriye Şeker-Cin,
Pfister S. M. the International Cancer Genome Consortium PedBrain Tumor Project,
Christof von Kalle,
Peter van Sluis,
Andreas von Deimling,
David T. W. Jones,
Natalie Jaeger,
Jones Dt,
Hans-Jörg Warnatz ,
Barbara Hutter ,
Sally R. Lambert,
Dong Anh Khuong Quang,
Natalie Jäger,
Adam M. Fontebasso,
Andrey Korshunov
and 90 other authors
,
Barbara Hutter ,
Sally R. Lambert,
Dong Anh Khuong Quang,
Natalie Jäger,
Adam M. Fontebasso,
Andrey Korshunov
and 90 other authors
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
Download from www.nature.com
2012
Martin H. Berryer,
Fadi F. Hamdan,
Laura L. Klitten,
Rikke S. Møller,
Lionel Carmant,
Jeremy Schwartzentruber ,
Lysanne Patry,
Sylvia Dobrzeniecka,
Daniel Rochefort,
Mathilde Neugnot-Cerioli,
Jean-Claude Lacaille,
Zhiyv Niu,
Christine M. Eng,
Yaping Yang,
Sylvain Palardy
and 12 other authors
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,
Lysanne Patry,
Sylvia Dobrzeniecka,
Daniel Rochefort,
Mathilde Neugnot-Cerioli,
Jean-Claude Lacaille,
Zhiyv Niu,
Christine M. Eng,
Yaping Yang,
Sylvain Palardy
and 12 other authors
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Janneke H. M. Schuurs-Hoeijmakers,
Michael T. Geraghty,
Erik-Jan Kamsteeg,
Salma Ben-Salem,
Susanne T. de Bot,
Bonnie Nijhof,
Ilse I. G. M. van de Vondervoort,
Marinette van der Graaf ,
Anna Castells Nobau ,
Irene Otte-Höller,
Sascha Vermeer,
Amanda C. Smith,
Peter Humphreys,
Jeremy Schwartzentruber ,
Bassam R. Ali
and 26 other authors
Download from www.ncbi.nlm.nih.gov
,
Anna Castells Nobau ,
Irene Otte-Höller,
Sascha Vermeer,
Amanda C. Smith,
Peter Humphreys,
Jeremy Schwartzentruber ,
Bassam R. Ali
and 26 other authors
Download from www.ncbi.nlm.nih.gov
McMillan Hj,
Hugh J. McMillan ,
Thea Worthylake,
Jeremy Schwartzentruber ,
Gottlieb Cc,
Chloe C. Gottlieb,
Sarah E. Lawrence,
Lawrence Se,
Alex MacKenzie,
Beaulieu Cl,
Chandree L. Beaulieu,
Mooyer Pa,
Petra A. W. Mooyer,
Forge Canada Consortium,
Canada Consortium Forge
and 10 other authors
Download from link.springer.com
,
Thea Worthylake,
Jeremy Schwartzentruber ,
Gottlieb Cc,
Chloe C. Gottlieb,
Sarah E. Lawrence,
Lawrence Se,
Alex MacKenzie,
Beaulieu Cl,
Chandree L. Beaulieu,
Mooyer Pa,
Petra A. W. Mooyer,
Forge Canada Consortium,
Canada Consortium Forge
and 10 other authors
Download from link.springer.com
Myriam Srour,
Fadi F. Hamdan,
Jeremy A. Schwartzentruber ,
Lysanne Patry,
Luis H. Ospina,
Michael I. Shevell,
Valérie Désilets,
Sylvia Dobrzeniecka,
Géraldine Mathonnet,
Emmanuelle Lemyre,
Christine Massicotte,
Damian Labuda,
Dina Amrom,
Eva Andermann,
Guillaume Sébire
and 5 other authors
,
Lysanne Patry,
Luis H. Ospina,
Michael I. Shevell,
Valérie Désilets,
Sylvia Dobrzeniecka,
Géraldine Mathonnet,
Emmanuelle Lemyre,
Christine Massicotte,
Damian Labuda,
Dina Amrom,
Eva Andermann,
Guillaume Sébire
and 5 other authors
Mutations inTMEM231cause Joubert syndrome in French Canadians
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Xiao-Yang Liu,
Noha Gerges,
Andrey Korshunov,
Nesrin Sabha,
Dong-Anh Khuong-Quang,
Adam M. Fontebasso,
Adam Fleming,
Djihad Hadjadj,
Jeremy Schwartzentruber ,
Jacek Majewski,
Zhifeng Dong,
Peter Siegel,
Steffen Albrecht,
Sidney Croul,
David Tw Jones
and 7 other authors
Download from www.researchgate.net
,
Jacek Majewski,
Zhifeng Dong,
Peter Siegel,
Steffen Albrecht,
Sidney Croul,
David Tw Jones
and 7 other authors
Download from www.researchgate.net
Koenekoop Rk,
Robert K. Koenekoop,
Xia Wang,
Hui Wang,
Jacek Majewski,
Irma Lopez,
Huanan Ren,
Yiyun Chen,
Yumei Li,
Fishman Ga,
Gerald A. Fishman,
Mohammed Genead,
Jeremy Schwartzentruber ,
Naimesh Solanki,
Traboulsi Ei
and 29 other authors
Download from www.ncbi.nlm.nih.gov
,
Naimesh Solanki,
Traboulsi Ei
and 29 other authors
Download from www.ncbi.nlm.nih.gov
Dong-Anh Khuong-Quang,
Pawel Buczkowicz,
Patricia Rakopoulos,
Xiao-Yang Liu,
Adam M. Fontebasso,
Eric Bouffet,
Ute Bartels,
Steffen Albrecht,
Jeremy Schwartzentruber ,
Louis Letourneau,
Mathieu Bourgey ,
Guillaume Bourque,
Alexandre Montpetit,
Genevieve Bourret,
Pierre Lepage
and 12 other authors
Download from www.ncbi.nlm.nih.gov
,
Louis Letourneau,
Mathieu Bourgey ,
Guillaume Bourque,
Alexandre Montpetit,
Genevieve Bourret,
Pierre Lepage
and 12 other authors
Download from www.ncbi.nlm.nih.gov
Francois P. Bernier,
Oana Caluseriu,
Sarah Ng,
Jeremy Schwartzentruber ,
Kati J. Buckingham,
A. Micheil Innes,
A. Micheil Innes,
Ethylin Wang Jabs,
Jeffrey W. Innis,
Jane L. Schuette,
Jerome L. Gorski,
Peter H. Byers,
Gregor Andelfinger,
Victoria Siu,
Julie Lauzon
and 9 other authors
,
Kati J. Buckingham,
A. Micheil Innes,
A. Micheil Innes,
Ethylin Wang Jabs,
Jeffrey W. Innis,
Jane L. Schuette,
Jerome L. Gorski,
Peter H. Byers,
Gregor Andelfinger,
Victoria Siu,
Julie Lauzon
and 9 other authors
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Download from www.ncbi.nlm.nih.gov
Myriam Srour,
Jeremy Schwartzentruber ,
Fadi F. Hamdan,
Luis H. Ospina,
Lysanne Patry,
Damian Labuda,
Christine Massicotte,
Sylvia Dobrzeniecka,
José-Mario Capo-Chichi,
Simon Papillon-Cavanagh,
Mark E. Samuels,
Kym M. Boycott,
Michael I. Shevell,
Rachel Laframboise,
Valérie Désilets
and 4 other authors
,
Fadi F. Hamdan,
Luis H. Ospina,
Lysanne Patry,
Damian Labuda,
Christine Massicotte,
Sylvia Dobrzeniecka,
José-Mario Capo-Chichi,
Simon Papillon-Cavanagh,
Mark E. Samuels,
Kym M. Boycott,
Michael I. Shevell,
Rachel Laframboise,
Valérie Désilets
and 4 other authors
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Download from www.ncbi.nlm.nih.gov
Rebecca L. Hood,
Matthew A. Lines,
Sarah M. Nikkel,
Jeremy Schwartzentruber ,
Chandree Beaulieu,
Małgorzata J. M. Nowaczyk,
Judith Allanson,
Chong Ae Kim,
Dagmar Wieczorek,
Jukka S. Moilanen,
Didier Lacombe,
Gabriele Gillessen-Kaesbach,
Margo L. Whiteford,
Caio Robledo D. C. Quaio,
Israel Gomy
and 14 other authors
,
Chandree Beaulieu,
Małgorzata J. M. Nowaczyk,
Judith Allanson,
Chong Ae Kim,
Dagmar Wieczorek,
Jukka S. Moilanen,
Didier Lacombe,
Gabriele Gillessen-Kaesbach,
Margo L. Whiteford,
Caio Robledo D. C. Quaio,
Israel Gomy
and 14 other authors
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Download from www.ncbi.nlm.nih.gov
Matthew A. Lines,
Lijia Huang,
Jeremy Schwartzentruber ,
Stuart L. Douglas,
Danielle C. Lynch,
Chandree Beaulieu,
Maria Leine Guion-Almeida,
Roseli Maria Zechi-Ceide,
Blanca Gener,
Gabriele Gillessen-Kaesbach,
Caroline Nava,
Geneviève Baujat,
Denise Horn,
Usha Kini,
Almuth Caliebe
and 12 other authors
Download from www.ncbi.nlm.nih.gov
,
Stuart L. Douglas,
Danielle C. Lynch,
Chandree Beaulieu,
Maria Leine Guion-Almeida,
Roseli Maria Zechi-Ceide,
Blanca Gener,
Gabriele Gillessen-Kaesbach,
Caroline Nava,
Geneviève Baujat,
Denise Horn,
Usha Kini,
Almuth Caliebe
and 12 other authors
Download from www.ncbi.nlm.nih.gov
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