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Author/Creator Collins, Ryan L.

1. Cover Image, Volume 173A, Number 2, February 2017. Issue 2 (19th January 2017)

Authors:
Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
i
Record Type:
Journal Article
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2. Cover Image, Volume 173A, Number 2, February 2017. Issue 2 (February 2017)

Authors:
Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Issue 4 (5th February 2020)

Authors:
Lilleväli, Hardo; Pajusalu, Sander; Wojcik, Monica H.; Goodrich, Julia; Collins, Ryan L.; Murumets, Ülle; Tammur, Pille; Blau, Nenad; Lilleväli, Kersti; Õunap, Katrin
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 4(2020)
Page Start:
n/a
Record Type:
Journal Article
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4. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Issue 2 (19th October 2016)

Authors:
Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
395
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Mitral Valve Prolapse is Associated with Dysregulated β-catenin Activities. (11th April 2019)

Authors:
Guo, Lilong; Toomer, Katelynn; Fulmer, Diana; Moore, Kelsey; Yu, Mengyao; Moore, Reece; Drayton, Ka'la; Glover, Janiece; Peterson, Neal; Ramos-Ortiz, Sandra; Drohan, Alex; Catching, Breiona J.; Stairley, Rebecca; Wessels, Andy; Lipschutz, Joshua H.; Delling, Francesca N.; Jeunemaitre, Xavier; Din...
Journal:
Structural heart
Issue:
Volume 3:Supplement 1(2019)
Page Start:
184
Record Type:
Journal Article
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6. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Issue 13 (26th March 2019)

Authors:
Khera, Amit V.; Chaffin, Mark; Zekavat, Seyedeh M.; Collins, Ryan L.; Roselli, Carolina; Natarajan, Pradeep; Lichtman, Judith H.; D'Onofrio, Gail; Mattera, Jennifer; Dreyer, Rachel; Spertus, John A.; Taylor, Kent D.; Psaty, Bruce M.; Rich, Stephen S.; Post, Wendy; Gupta, Namrata; Gabriel, Stacey;...
Journal:
Circulation
Issue:
Volume 139:Issue 13(2019)
Page Start:
Record Type:
Journal Article
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