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Author/Creator Hunter, Jesse M.

1. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Issue 9 (3rd September 2019)

Authors:
Kasak, Laura; Hunter, Jesse M.; Udani, Rupa; Bakolitsa, Constantina; Hu, Zhiqiang; Adhikari, Aashish N.; Babbi, Giulia; Casadio, Rita; Gough, Julian; Guerrero, Rafael F.; Jiang, Yuxiang; Joseph, Thomas; Katsonis, Panagiotis; Kotte, Sujatha; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; ...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1373
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Issue 4 (8th April 2015)

Authors:
Hunter, Jesse M.; Ahearn, Mary Ellen; Balak, Christopher D.; Liang, Winnie S.; Kurdoglu, Ahmet; Corneveaux, Jason J.; Russell, Megan; Huentelman, Matthew J.; Craig, David W.; Carpten, John; Coons, Stephen W.; DeMello, Daphne E.; Hall, Judith G.; Bernes, Saunder M.; Baumbach‐Reardon, Lisa
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 4(2015:Jul.)
Page Start:
283
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗