J. Schwartzentruber
发表
Nada Jabado,
Maxime Caron,
Jacek Majewski,
2013,
Nature Genetics.
E. McDonagh,
I. Dunham,
M. Pignatelli,
2020,
Nucleic Acids Res..
Daniel J. Gaffney,
Alex Gutteridge,
H. Kilpinen,
2017,
bioRxiv.
Daniel J. Gaffney,
Andrew R. Bassett,
P. Beltrão,
2020
.
David T. W. Jones,
V. P. Collins,
T. Rausch,
2012,
Nature.
David T. W. Jones,
V. P. Collins,
M. Wolter,
2012,
Cancer cell.
Steven J. M. Jones,
S. Scherer,
B. Fernandez,
2014,
American journal of human genetics.
Colin A. Johnson,
G. Mardon,
G. Fishman,
2012,
Nature Genetics.
Liliana Goumnerova,
Nada Jabado,
David T. W. Jones,
2014,
Nature Genetics.
K. Boycott,
D. Bulman,
C. Beaulieu,
2014,
Journal of Medical Genetics.
Kym M Boycott,
Jacek Majewski,
Mark E Samuels,
2011,
Human mutation.
E. Zeggini,
G. Ritchie,
P. Danecek,
2017,
bioRxiv.
Andrey Korshunov,
Nada Jabado,
David T. W. Jones,
2012,
Acta Neuropathologica.
J. Schwartzentruber,
2018
.
Benn,
Daniel J. Gaffney,
H. Kilpinen,
2017
.
J. Ganesh,
J. Orange,
J. Majewski,
2011,
Journal of Medical Genetics.
E. Zeggini,
G. McVean,
C. Tyler-Smith,
2013,
Nature Communications.
K. Finberg,
J. Majewski,
J. Schwartzentruber,
2013,
Pediatrics.
E. Zeggini,
K. Hatzikotoulas,
A. Wainwright,
2018,
Communications Biology.
I. Dunham,
M. Ghoussaini,
J. Schwartzentruber,
2022,
eBioMedicine.
J. Majewski,
J. Schwartzentruber,
C. Deal,
2013,
The Journal of clinical endocrinology and metabolism.
Jie Huang,
Inês Barroso,
Tom R. Gaunt,
2017,
American journal of human genetics.
S. Ferdinandusse,
R. Wanders,
K. Boycott,
2012,
Orphanet Journal of Rare Diseases.
K. Boycott,
J. Woulfe,
D. Bulman,
2015,
Neurobiology of Aging.
A. Fischer,
N. Taylor,
C. Picard,
2014,
Nature.
K. Boycott,
J. Majewski,
J. Schwartzentruber,
2017,
American journal of medical genetics. Part A.
M. Tarnopolsky,
J. Schwartzentruber,
A. Saleem,
2017,
European Journal of Human Genetics.
L. Aravind,
K. Boycott,
T. Hartley,
2015,
International journal of cardiology.
R. Rodenburg,
K. Boycott,
D. Bulman,
2018,
Journal of inherited metabolic disease.
E. Bullmore,
M. Lynall,
M. Stein,
2022,
Nature Communications.
I. Thiffault,
J. Majewski,
S. Chénier,
2018,
Journal of child neurology.
Lijia Huang,
K. Boycott,
J. Woulfe,
2015,
Clinical genetics.
K. McKernan,
E. Shoubridge,
F. Sasarman,
2014,
Human mutation.
Gang Wu,
J. Schwartzentruber,
T. McEachron,
2014,
Cold Spring Harbor perspectives in biology.
Jeremy Schwartzentruber,
Eleftheria Zeggini,
Ioanna Tachmazidou,
2017,
Nature Communications.
Gang Wu,
J. Schwartzentruber,
T. McEachron,
2014
.
E. Sell,
D. Bulman,
M. Vanstone,
2014,
Clinical genetics.
Clare E. West,
Maria J. Falaguera,
I. Dunham,
2022,
medRxiv.
J. Shendure,
B. O’Roak,
C. Cytrynbaum,
2012,
Nature Genetics.
David T. W. Jones,
T. Rausch,
G. Reifenberger,
2012,
Nature.
Lijia Huang,
K. Boycott,
D. Bulman,
2012,
Orphanet Journal of Rare Diseases.
Gabriele Gillessen-Kaesbach,
Dagmar Wieczorek,
Jacek Majewski,
2012,
American journal of human genetics.
W. Chung,
R. Gibbs,
A. Berghuis,
2013,
American journal of human genetics.
M. Blanchette,
M. Lathrop,
Pablo Cingolani,
2013,
PLoS pathogens.
Nada Jabado,
Emilie Lalonde,
Jacek Majewski,
2011,
Journal of Medical Genetics.
David T. W. Jones,
A. Montpetit,
M. Kool,
2012,
Acta Neuropathologica.
G. Portella,
M. Orozco,
J. Schwartzentruber,
2010,
Nucleic acids research.
A. Fischer,
C. Picard,
P. Revy,
2013,
The Journal of allergy and clinical immunology.
N. Alirezaie,
J. Majewski,
J. Schwartzentruber,
2013
.
J. Schwartzentruber,
M. McKinnon,
S. Greenway,
2016,
Human Mutation.
C. Q. Lee,
David T. W. Jones,
Michael D. Brooks,
2012,
Oxford Medicine Online.
Roland Eils,
Thomas Zichner,
Hans Lehrach,
2013,
Nature Genetics.
David T. W. Jones,
A. Montpetit,
M. Kool,
2013,
Acta Neuropathologica.
S. Scherer,
T. MacDonald,
S. Croul,
2012,
Nature.
I. Dunham,
H. Hermjakob,
S. Orchard,
2021,
bioRxiv.
Martin Kircher,
R. Greenberg,
K. Boycott,
2015,
Cancer discovery.
E. Zackai,
M. Brudno,
K. Boycott,
2015,
Clinical genetics.
J. Schwartzentruber,
T. Young,
Jane S Green,
2013,
Ophthalmic genetics.
Adam P. DeLuca,
Matthew S. Lebo,
Janeen L Andorf,
2014,
Genome Biology.
Daniel Nilsson,
Peter Szolovits,
Karen Eilbeck,
2014,
Genome Biology.
M. Tarnopolsky,
K. Boycott,
D. Bulman,
2015,
Clinical genetics.
K. Boycott,
D. Bulman,
C. Beaulieu,
2014,
Epilepsia.
J. Lacaille,
N. Tommerup,
M. Tarnopolsky,
2013,
Human mutation.
R. Hennekam,
K. Boycott,
D. Bulman,
2016,
American journal of medical genetics. Part A.
Daniel J. Gaffney,
Andrew R. Bassett,
P. Beltrão,
2021,
Nature Genetics.
Daniel J. Gaffney,
T. Santarius,
N. Soranzo,
2019,
Nature Genetics.
Daniel J. Gaffney,
Andrew R. Bassett,
P. Beltrão,
2021,
Nature Genetics.
E. Zeggini,
K. Hatzikotoulas,
A. Wainwright,
2018,
Communications Biology.
Ellen M. Schmidt,
J. Todd,
J. Barrett,
2020,
Nature Genetics.
S. Teichmann,
J. Marioni,
B. Göttgens,
2021,
bioRxiv.
C. Marshall,
A. Paterson,
F. Glorieux,
2013,
American journal of human genetics.
Xiangyu Ge,
Jeremy Schwartzentruber,
Eleftheria Zeggini,
2017,
bioRxiv.
M. Tarnopolsky,
Lijia Huang,
K. Boycott,
2017,
American journal of medical genetics. Part A.
E. Shoubridge,
H. Antonicka,
F. Sasarman,
2015,
Human molecular genetics.
Z. Nawaz,
J. Majewski,
J. Schwartzentruber,
2014,
Clinical genetics.
C. Marshall,
M. Tarnopolsky,
R. Hegele,
2013,
Human mutation.
B. Fernandez,
K. Boycott,
T. Hartley,
2017,
Clinical genetics.
B. Fernandez,
C. Polychronakos,
M. Tarnopolsky,
2015,
Clinical genetics.
E. Bullmore,
M. Lynall,
M. Stein,
2021,
medRxiv.
B. Brais,
J. Majewski,
J. Schwartzentruber,
2014,
Muscle & nerve.
B. Frey,
Leo J. Lee,
Soma Das,
2013,
Nature Genetics.
A. V. Vulto-van Silfhout,
L. Vissers,
J. Schuurs-Hoeijmakers,
2012,
American journal of human genetics.
J. Drouin,
A. Balsalobre,
J. Majewski,
2014,
BMC Medical Genetics.
Gautier Koscielny,
Simon Jupp,
Zoe May Pendlington,
2020,
Nucleic Acids Res..
D. Chitayat,
K. Boycott,
J. Majewski,
2017,
Clinical genetics.
M. Lathrop,
J. Berghout,
P. Gros,
2014,
The Journal of experimental medicine.
I. Dunham,
M. Ghoussaini,
G. Smith,
2020
.
Dagmar Wieczorek,
William B. Dobyns,
Laurence Faivre,
2014,
Nature Genetics.
R. Gibbs,
S. Robertson,
M. Bainbridge,
2012,
American journal of human genetics.
D. Labuda,
E. Lemyre,
G. Rouleau,
2012,
Journal of Medical Genetics.
D. Valle,
N. Sobreira,
J. Majewski,
2015,
Human mutation.
D. Labuda,
G. Rouleau,
K. Boycott,
2012,
American journal of human genetics.
Jay Shendure,
Michael J Bamshad,
Deborah A Nickerson,
2012,
American journal of human genetics.
J. Majewski,
J. Schwartzentruber,
L. Simard,
2015,
BMC Medical Genetics.
M. Lathrop,
J. Berghout,
P. Gros,
2014,
Infection and Immunity.
K. Boycott,
D. Bulman,
C. Beaulieu,
2015,
Journal of child neurology.
Colin A. Johnson,
N. Katsanis,
F. Alkuraya,
2014,
American journal of human genetics.
D. Horn,
B. Gener,
D. Lev,
2012,
American journal of human genetics.
K. Boycott,
D. Bulman,
C. Beaulieu,
2014,
BMC Medical Genetics.
M. Tarnopolsky,
J. Schwartzentruber,
L. Brady,
2015,
Neurology.
A. Fischer,
Z. Herceg,
M. Nussenzweig,
2015,
The Journal of allergy and clinical immunology.
C. Fallet-Bianco,
D. Labuda,
H. Mandel,
2015,
American journal of human genetics.
Tom R. Gaunt,
V. Gudnason,
V. Emilsson,
2021,
medRxiv.
Andrew R. Bassett,
J. Schwartzentruber,
Sarah Cooper,
2022,
bioRxiv.
Sahar Mansour,
Kym M Boycott,
Dennis E Bulman,
2013,
American journal of human genetics.
W. Reardon,
S. Mansour,
K. Boycott,
2013
.
R. Hevner,
K. Boycott,
D. Bulman,
2014,
Journal of neuropathology and experimental neurology.
J. Majewski,
F. Hildebrandt,
E. Otto,
2013,
Clinical genetics.
C. Schwartz,
E. Puffenberger,
C. Ober,
2013,
Orphanet Journal of Rare Diseases.
E. Zeggini,
K. Hatzikotoulas,
D. Eastwood,
2017,
bioRxiv.
M. Lathrop,
D. Malo,
J. Majewski,
2014,
The Journal of Immunology.
Judith N. Mandl,
D. Malo,
J. Majewski,
2019,
Nature Microbiology.
Judith N. Mandl,
D. Malo,
J. Majewski,
2017,
bioRxiv.
M. Lathrop,
J. Majewski,
J. Schwartzentruber,
2013
.
H. Vali,
J. Majewski,
J. Schwartzentruber,
2015,
Investigative ophthalmology & visual science.
K. Boycott,
D. Bulman,
C. Beaulieu,
2014,
BMC Neurology.
C. Marshall,
T. Paton,
A. Paterson,
2017,
Investigative ophthalmology & visual science.
K. Boycott,
C. Beaulieu,
J. Majewski,
2014,
Clinical genetics.
Nicolas Moitessier,
Christopher R Corbeil,
Sabine Thielges,
2008,
Angewandte Chemie.
J. Schwartzentruber,
M. Clausen,
B. Lagerholm,
2013,
PloS one.
Andrew R. Bassett,
J. Schwartzentruber,
Sarah Cooper,
2020,
Nucleic acids research.
C. Q. Lee,
David T. W. Jones,
Michael D. Brooks,
2022,
Progress in Brain Research.
D. Bulman,
C. Beaulieu,
J. Majewski,
2016,
JIMD reports.
J. Schwartzentruber,
M. McKinnon,
S. Greenway,
2016,
Human mutation.
D. Labuda,
E. Lemyre,
G. Rouleau,
2012,
Journal of Medical Genetics.
E. Zackai,
M. Brudno,
K. Boycott,
2014,
Nature Communications.
Martin Kircher,
R. Greenberg,
K. Boycott,
2015,
Cancer discovery.
K. Boycott,
D. Bulman,
C. Beaulieu,
2014,
Epilepsia.
S. Ferdinandusse,
K. Boycott,
D. Bulman,
2013,
Orphanet Journal of Rare Diseases.
J. Todd,
J. Barrett,
I. Dunham,
2021,
Nature Genetics.