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Author/Creator Pierson, Tyler M.

1. 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
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2. Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome. (29th August 2019)

Authors:
Jiang, Xiao; Raju, Praveen K.; D'Avanzo, Nazzareno; Lachance, Mathieu; Pepin, Julie; Dubeau, François; Mitchell, Wendy G.; Bello‐Espinosa, Luis E.; Pierson, Tyler M.; Minassian, Berge A.; Lacaille, Jean‐Claude; Rossignol, Elsa
Journal:
Epilepsia
Issue:
Volume 60:issue 9(2019)
Page Start:
1881
Record Type:
Journal Article
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3. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. Issue 4 (13th November 2019)

Authors:
Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; ...
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
557
Record Type:
Journal Article
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5. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. Issue 10 (12th August 2013)

Authors:
Landouré, Guida; Zhu, Peng‐Peng; Lourenço, Charles M.; Johnson, Janel O.; Toro, Camilo; Bricceno, Katherine V.; Rinaldi, Carlo; Meilleur, Katherine G.; Sangaré, Modibo; Diallo, Oumarou; Pierson, Tyler M.; Ishiura, Hiroyuki; Tsuji, Shoji; Hein, Nichole; Fink, John K.; Stoll, Marion; Nicholson, Gar...
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1357
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗