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Author/Creator Glusman, Gustavo

1. Author Correction: Parent-of-origin-specific signatures of de novo mutations. (November 2018)

Authors:
Goldmann, Jakob; Wong, Wendy; Pinelli, Michele; Farrah, Terry; Bodian, Dale; Stittrich, Anna; Glusman, Gustavo; Vissers, Lisenka; Hoischen, Alexander; Roach, Jared; Vockley, Joseph; Veltman, Joris; Solomon, Benjamin; Gilissen, Christian; Niederhuber, John
Journal:
Nature genetics
Issue:
Volume 50:Number 11(2018)
Page Start:
1615
Record Type:
Journal Article
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2. Big biomedical data as the key resource for discovery science. (21st July 2015)

Authors:
Toga, Arthur W; Foster, Ian; Kesselman, Carl; Madduri, Ravi; Chard, Kyle; Deutsch, Eric W; Price, Nathan D; Glusman, Gustavo; Heavner, Benjamin D; Dinov, Ivo D; Ames, Joseph; Van Horn, John; Kramer, Roger; Hood, Leroy
Journal:
Journal of the American Medical Informatics Association
Issue:
Volume 22:Number 6(2015:Nov.)
Page Start:
1126
Record Type:
Journal Article
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3. Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science. Issue 8 (6th June 2022)

Authors:
Unni, Deepak R.; Moxon, Sierra A. T.; Bada, Michael; Brush, Matthew; Bruskiewich, Richard; Caufield, J. Harry; Clemons, Paul A.; Dancik, Vlado; Dumontier, Michel; Fecho, Karamarie; Glusman, Gustavo; Hadlock, Jennifer J.; Harris, Nomi L.; Joshi, Arpita; Putman, Tim; Qin, Guangrong; Ramsey, Stephen...
Other Names:
Acevedo Liliana investigator.; Ahalt Stanley C. investigator.; Alden John investigator.; Alkanaq Ahmed investigator.; Amin Nada investigator.; Avila Ricardo investigator.; Balhoff Jim investigator.; Baranzini Sergio E. investigator.; Baumgartner Andrew investigator.; Baumgartner William investiga...
Journal:
Clinical and translational science
Issue:
Volume 15:Issue 8(2022)
Page Start:
1848
Record Type:
Journal Article
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4. Clinical Data: Sources and Types, Regulatory Constraints, Applications. Issue 4 (9th May 2019)

Authors:
Ahalt, Stanley C.; Chute, Christopher G.; Fecho, Karamarie; Glusman, Gustavo; Hadlock, Jennifer; Taylor, Casey Overby; Pfaff, Emily R.; Robinson, Peter N.; Solbrig, Harold; Ta, Casey; Tatonetti, Nicholas; Weng, Chunhua
Journal:
Clinical and translational science
Issue:
Volume 12:Issue 4(2019)
Page Start:
329
Record Type:
Journal Article
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5. Crowdsourced direct-to-consumer genomic analysis of a family quartet. (December 2015)

Authors:
Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; Harrison, Andrew; Cariaso, Mike; Moran, Federico; Nielsen, Fiona; Swan, Daniel; Weiss Solís, David; Krawitz, Peter; Schacherer, Frank; Schols, Peter; Yang, Huangming; Borry, Pascal; Glusman...
Journal:
BMC genomics
Issue:
Volume 16:Number 1(2015)
Page Start:
1
Record Type:
Journal Article
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6. Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations. Issue 10 (4th August 2014)

Authors:
Lehman, Anna; Stittrich, Anna‐Barbara; Glusman, Gustavo; Zong, Zheyuan; Li, Hong; Eydoux, Patrice; Senger, Christof; Lyons, Christopher; Roach, Jared C.; Patel, Millan
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2656
Record Type:
Journal Article
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7. Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations. Issue 10 (4th August 2014)

Authors:
Lehman, Anna; Stittrich, Anna‐Barbara; Glusman, Gustavo; Zong, Zheyuan; Li, Hong; Eydoux, Patrice; Senger, Christof; Lyons, Christopher; Roach, Jared C.; Patel, Millan
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2656
Record Type:
Journal Article
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9. Origin of the PSEN1 E280A mutation causing early‐onset Alzheimer's disease. (18th November 2013)

Authors:
Lalli, Matthew A.; Cox, Hannah C.; Arcila, Mary L.; Cadavid, Liliana; Moreno, Sonia; Garcia, Gloria; Madrigal, Lucia; Reiman, Eric M.; Arcos‐Burgos, Mauricio; Bedoya, Gabriel; Brunkow, Mary E.; Glusman, Gustavo; Roach, Jared C.; Hood, Leroy; Kosik, Kenneth S.; Lopera, Francisco
Journal:
Alzheimer's & dementia
Issue:
Volume 10(2014)Supplement 5
Page Start:
S277
Record Type:
Journal Article
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