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Author/Creator Smith, Rosemarie

1. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Issue 12 (15th November 2021)

Authors:
Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sa...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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3. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. Issue 2 (17th December 2011)

Authors:
Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha; Slavotinek, Anne M; Cox, Victoria A; Hennekam, Raoul C; Firth, Helen V; Willatt, Lionel; Wheeler, Patricia; Morrow, Eric M; Cook, Joseph; Sullivan, Rachel; Oh, Albert; McDonald, Marie T; Zonana, Jonathan; Keller, Kory; Hannibal, Mark C; Ball, ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
110
Record Type:
Journal Article
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4. Investigation of NRXN1 deletions: Clinical and molecular characterization12. Issue 4 (12th March 2013)

Authors:
Dabell, Mindy Preston; Rosenfeld, Jill A.; Bader, Patricia; Escobar, Luis F.; El‐Khechen, Dima; Vallee, Stephanie E.; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C.; Siefkas, Kiana; Wyatt, Philip R.; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; L...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 4(2013:Apr.)
Page Start:
717
Record Type:
Journal Article
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6. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. Issue 8 (28th July 2018)

Authors:
Levin, Mark D.; Saitta, Sulagna C.; Gripp, Karen W.; Wenger, Tara L.; Ganesh, Jaya; Kalish, Jennifer M.; Epstein, Michael R.; Smith, Rosemarie; Czosek, Richard J.; Ware, Stephanie M.; Goldenberg, Paula; Myers, Angela; Chatfield, Kathryn C.; Gillespie, Matthew J.; Zackai, Elaine H.; Lin, Angela E.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 8(2018)
Page Start:
1711
Record Type:
Journal Article
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