C. Gonzaga‐Jauregui
发表
C. Gonzaga‐Jauregui,
2013
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A. Kurolap,
A. Mory,
L. Sagi‐Dain,
2019,
American journal of medical genetics. Part A.
Marylyn D. Ritchie,
Scott Mellis,
Alan R. Shuldiner,
2016,
Science.
J. Deelen,
A. Shuldiner,
N. Barzilai,
2020,
Aging cell.
W. Chung,
J. Lupski,
R. Gibbs,
2020,
bioRxiv.
Tam P. Sneddon,
Andrew R. Grant,
C. Betancur,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
Mark S. Anderson,
Christopher S. Law,
J. Lupski,
2015,
Nature Genetics.
Andrew J. Oler,
S. Choo,
S. Tangye,
2020,
Blood.
D. Gaudet,
D. Rader,
Shazia Ali,
2021,
Journal of the American College of Cardiology.
W. Chung,
Yufeng Shen,
F. Dewey,
2018,
Circulation. Genomic and precision medicine.
A. Shuldiner,
N. Orenstein,
K. Wimmer,
2019,
Journal of Medical Genetics.
J. Lupski,
S. Batish,
C. Towne,
2010,
Neurogenetics.
N. Ekhilevitch,
A. Kurolap,
L. Sagi‐Dain,
2021,
American journal of medical genetics. Part A.
Anna Gambin,
Piotr Dittwald,
Tomasz Gambin,
2013,
Human mutation.
A. Shuldiner,
Y. Goldberg,
A. Kurolap,
2019,
Journal of Medical Genetics.
E. Puffenberger,
M. Baybis,
P. Crino,
2020,
bioRxiv.
Alexander E. Lopez,
Alexander Hanbo Li,
Andrew L Blumenfeld,
2020,
Nature.
J. Lupski,
R. Gibbs,
C. Gonzaga-Jauregui,
2012,
Annual review of medicine.
A. Shuldiner,
N. Orenstein,
L. Basel-Salmon,
2022,
Prenatal diagnosis.
M. Yoder,
E. Puffenberger,
K. Strauss,
2018,
Human molecular genetics.
A. Lemke,
K. Brothers,
N. Hanchard,
2022,
American journal of human genetics.
S. Tishkoff,
J. Novembre,
A. Lemke,
2022,
American journal of human genetics.
A. Shuldiner,
B. Mitchell,
T. Pollin,
2021,
European journal of neurology.
C. Mathew,
M. Simpson,
N. Mailand,
2022,
Nature Communications.
J. B. Oliveira,
R. Giugliani,
I. Zarante,
2022,
Frontiers in Genetics.
Sharon R Grossman,
Pardis C Sabeti,
P. Deloukas,
2010,
Nature.
Michael F. Wangler,
J. Lupski,
R. Gibbs,
2014,
PLoS genetics.
L. Vissers,
S. Cockell,
J. Veltman,
2021,
bioRxiv.
A. Griffiths,
N. Warner,
C. Bertozzi,
2022,
Cell.
H. Mandel,
A. Shuldiner,
J. Overton,
2019,
Journal of Human Genetics.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2015,
Cell reports.
Gonçalo Abecasis,
Alan R. Shuldiner,
Jeffrey Staples,
2019,
bioRxiv.
Arun K. Ramani,
A. Griffiths,
N. Warner,
2022,
Gastro Hep Advances.
Andrei L. Turinsky,
Arun K. Ramani,
A. Paterson,
2020,
Gastroenterology.
David R. Murdock,
J. Lupski,
R. Gibbs,
2011,
Science Translational Medicine.
J. Lupski,
R. Gibbs,
D. Muzny,
2011
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Yehudit Hasin,
Tsviya Olender,
Miriam Khen,
2008,
PLoS genetics.
Ellen F. Macnamara,
J. Lupski,
E. Puffenberger,
2018,
American journal of human genetics.
M. Chahrour,
Maria H. Chahrour,
C. Gonzaga‐Jauregui,
2021,
Genomics of Rare Diseases.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2015,
The Journal of clinical investigation.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2014,
Cell.
Alexander E. Lopez,
Tanya M. Teslovich,
D. Ledbetter,
2017,
bioRxiv.
Klaudia Walter,
M. Hurles,
P. Stankiewicz,
2017,
Cell.
W. Chung,
J. Lupski,
R. Gibbs,
2015,
Neuron.
Caleb F. Davis,
P. Stankiewicz,
J. Lupski,
2015,
BMC Genomics.
Khalid Al Rubeaan,
J. Lupski,
R. Gibbs,
2018
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Marylyn D. Ritchie,
Alan R. Shuldiner,
Jeffrey Staples,
2017,
bioRxiv.
James T Lu,
Richard A Gibbs,
Philippe M Campeau,
2017,
Cold Spring Harbor molecular case studies.
Marylyn D. Ritchie,
Alan R. Shuldiner,
Laney K. Jones,
2016,
Science.
J. Lupski,
R. Gibbs,
D. Muzny,
2015,
Molecular genetics & genomic medicine.
J. Lupski,
R. Gibbs,
D. Muzny,
2013,
Genome Medicine.
P. Stankiewicz,
J. Lupski,
R. Gibbs,
2010,
The New England journal of medicine.
J. Lupski,
S. Cheung,
F. Zhang,
2020,
Human mutation.
C. Z. Mendoza,
C. Gonzaga‐Jauregui,
Cinthya J. Zepeda Mendoza,
2021,
Genomics of Rare Diseases.
T. Chatila,
H. Su,
G. Baysoy,
2021,
Allergy.
A. Shuldiner,
S. Snapper,
J. Overton,
2019,
Journal of Clinical Immunology.
O. Gottesman,
A. Shuldiner,
H. Kirchner,
2019,
Diabetes.
David Valle,
Teresa Tusie-Luna,
Delfino García,
2007
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C. Z. Mendoza,
C. Gonzaga‐Jauregui,
Cinthya J. Zepeda Mendoza,
2021,
Genomics of Rare Diseases.
Alexander E. Lopez,
Andrew L Blumenfeld,
J. Marchini,
2020,
Nature.
H. Mandel,
Ann Saada,
J. Staples,
2020,
Molecular genetics and metabolism reports.
F. Glaser,
A. Shuldiner,
J. Overton,
2018,
Journal of Medical Genetics.
M. Holtgrewe,
C. Gonzaga-Jauregui,
J. Overton,
2020,
Bone.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2014,
American journal of medical genetics. Part A.
A. Shuldiner,
N. Orenstein,
L. Basel-Salmon,
2021,
Prenatal diagnosis.
J. Lupski,
S. Cheung,
H. Zoghbi,
2011,
Nature Genetics.
J. Lupski,
F. Baas,
P. Liu,
2010,
American journal of human genetics.
F. Dewey,
E. Puffenberger,
K. Strauss,
2017,
Genetics in Medicine.
Jeffrey M. Weiss,
Ryan L. Collins,
Jack M. Fu,
2021,
medRxiv.
C. Gonzaga‐Jauregui,
2021,
Genomics of Rare Diseases.
Gunnar Houge,
Stefan Johansson,
Martin S. Taylor,
2014,
American journal of human genetics.
J. Graham,
Q. Waisfisz,
D. Wieczorek,
2019,
Brain : a journal of neurology.
H. Hakonarson,
J. Hurst,
J. Christodoulou,
2020,
Science Advances.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2013,
JAMA neurology.
W. Chung,
Yufeng Shen,
F. Dewey,
2018,
Genome Medicine.
Lisa J. Martin,
Ferhaan Ahmad,
W. Chung,
2019,
Genome Medicine.
Lisa J. Martin,
Ferhaan Ahmad,
W. Chung,
2019,
Genome Medicine.
A. Shuldiner,
N. Orenstein,
Y. Goldberg,
2020,
Genetics in Medicine.
A. Shuldiner,
N. Orenstein,
Y. Goldberg,
2020,
Genetics in Medicine.
P. Stankiewicz,
J. Lupski,
R. Gibbs,
2010,
New England Journal of Medicine.
J. Lupski,
R. Gibbs,
D. Muzny,
2015,
Genetics in Medicine.
Donna M. Muzny,
Yuji Okamoto,
Richard A. Gibbs,
2013,
Genetics in Medicine.
I. Krantz,
J. Lupski,
D. Pehlivan,
2012,
Genetics in Medicine.
A. Griffiths,
N. Warner,
O. Gottesman,
2021,
Scientific Reports.
A. Griffiths,
N. Warner,
O. Gottesman,
2017,
Scientific Reports.
Kristin A. Maloney,
A. Shuldiner,
B. Mitchell,
2021,
American journal of medical genetics. Part A.
M. Gutierrez-Arcelus,
R. Palacios,
C. Zepeda-Mendoza,
2010,
BMC Genomics.
Justyna A. Karolak,
H. Mefford,
W. Chung,
2019,
American journal of human genetics.
L. Vissers,
R. Pfundt,
B. D. de Vries,
2014,
American journal of human genetics.
L. Vissers,
E. Zackai,
D. Nickerson,
2019,
Brain : a journal of neurology.
M. Lyons,
R. Person,
C. Ferreira,
2019,
European Journal of Human Genetics.
A. Shuldiner,
N. Orenstein,
L. Basel-Salmon,
2021,
Genetics in Medicine.
Johnathon R. Walls,
Marc S. Williams,
J. Lupski,
2020,
European Journal of Human Genetics.
C. Gonzaga‐Jauregui,
James R. Lupski,
2021,
Genomics of Rare Diseases.
C. Klein,
N. Warner,
S. Snapper,
2020,
Scientific Reports.
W. Chung,
J. Lupski,
R. Gibbs,
2020,
Human molecular genetics.
E. Zackai,
J. Lupski,
R. Gibbs,
2020,
Genetics in Medicine.
W. Chung,
E. Puffenberger,
Z. Niu,
2021,
American journal of human genetics.
J. Gécz,
G. Ast,
F. Glaser,
2022,
American journal of human genetics.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2013
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H. Hakonarson,
C. Siao,
E. Puffenberger,
2017,
American Journal of Human Genetics.
Kristin A. Maloney,
J. O’Connell,
D. Roden,
2020,
Circulation. Genomic and precision medicine.
Arun K. Ramani,
A. Griffiths,
N. Warner,
2020,
Clinical and translational gastroenterology.
E. Puffenberger,
K. Strauss,
B. Wirth,
2020,
The American Journal of Human Genetics.
D. Gaudet,
D. Rader,
C. Ballantyne,
2023,
Nature Medicine.
Kumar Kshitij Patel,
A. Pang,
W. Chung,
2016,
Human Genomics.
N. Shomron,
A. Shuldiner,
Y. Goldberg,
2021,
Clinical genetics.
H. Mandel,
A. Shuldiner,
J. Overton,
2019,
Journal of Human Genetics.
J. Lupski,
R. Gibbs,
D. Muzny,
2014,
Journal of pediatric gastroenterology and nutrition.
V. Scaria,
D. Taruscio,
V. Dissanayake,
2023,
Frontiers in Public Health.
A. Shuldiner,
N. Adir,
A. Kurolap,
2020,
Clinical dysmorphology.
W. Chung,
Yufeng Shen,
F. Dewey,
2018,
Circulation Genomic and Precision Medicine.
Kenneth G. C. Smith,
M. Lenardo,
H. Su,
2021,
Proceedings of the National Academy of Sciences.
J. Lupski,
R. Gibbs,
D. Muzny,
2014,
European Journal of Human Genetics.
J. Lupski,
V. Sutton,
S. Penney,
2014,
European journal of medical genetics.
A. Pang,
W. Chung,
J. Lupski,
2016,
Human Genomics.
Adam P. DeLuca,
Young H. Kwon,
Michael G. Anderson,
2021,
BMC Genomics.
W. Chung,
A. Shuldiner,
J. Overton,
2018,
AACE Clinical Case Reports.
N. Shomron,
E. Friedman,
A. Shuldiner,
2023,
Genes.
C. Gonzaga-Jauregui,
A. Shuldiner,
N. Orenstein,
2021,
American journal of medical genetics. Part A.
Lukas Habegger,
Suganthi Balasubramanian,
Michael N Cantor,
2020,
bioRxiv.
Kumar Kshitij Patel,
Jose Maria Gonzalez-Izarzugaza,
A. Pang,
2016,
Human Genomics.
E. Puffenberger,
P. Crino,
J. Babus,
2022,
Brain : a journal of neurology.
W. Chung,
Yufeng Shen,
F. Dewey,
2018,
Genome Medicine.
Joshua M. Korn,
Pardis C Sabeti,
P. Deloukas,
2010,
Nature.
P. Stankiewicz,
J. Lupski,
C. Carvalho,
2013,
Human mutation.
Y. Goldberg,
L. Basel-Salmon,
I. Lagovsky,
2023,
Clinical genetics.
Dustin N. Hartzel,
D. Ledbetter,
F. Dewey,
2016,
Science.
A. Shuldiner,
S. Snapper,
J. Overton,
2019,
Journal of Clinical Immunology.
W. Chung,
J. Lupski,
R. Gibbs,
2015,
Neuron.
L. Vissers,
R. Pfundt,
R. Gibbs,
2014,
American journal of human genetics.
Nathan D. Olson,
Karynne E. Patterson,
Wayne E. Clarke,
2024,
medRxiv.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2014,
Cell.
Caleb F. Davis,
P. Stankiewicz,
J. Lupski,
2015,
BMC Genomics.
J. Lupski,
R. Gibbs,
E. Boerwinkle,
2013,
JAMA neurology.