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Author/Creator Bryant, Emily

1. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Issue 9 (11th May 2022)

Authors:
O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, ...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 9(2022)
Page Start:
2750
Record Type:
Journal Article
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2. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Issue 23 (10th July 2021)

Authors:
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; Mc...
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 23(2021)
Page Start:
2300
Record Type:
Journal Article
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4. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Issue 2 (13th July 2021)

Authors:
Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen...
Journal:
Annals of neurology
Issue:
Volume 90:Issue 2(2021)
Page Start:
274
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗