RosemarieSmithMD
Medical Genetics • Portland, MEClinical Biochemical Genetics, Clinical Genetics
Physician
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Office
1577 Congress St
2nd Floor
Portland, ME 04102Phone+1 207-662-5522Fax+1 207-774-1814- Is this information wrong?
Education & Training
Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 1996 - 1999
University of RochesterResidency, Pediatrics, 1993 - 1996
University of Massachusetts Medical SchoolClass of 1993
Certifications & Licensure
ME State Medical License 2001 - 2024
PA State Medical License 1996 - 2000- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 7 citationsBET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B. Cummings, Ying Hu, Rosemarie Smith, P...> ;EMBO Molecular Medicine. 2021 Nov 15
- 9 citationsMYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frédéric Bilan, Gw...> ;Human Genetics. 2021 Nov 8
- 1 citationsCorrection to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Mill...> ;Genetics in Medicine. 2021 Dec 1
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Journal Articles
- Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy PatientsKaren W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
Press Mentions
An Autosomal Dominant Neurological Disorder Caused by De Novo Variants in FAR1 Resulting in Uncontrolled Synthesis of Ether LipidsNovember 26th, 2020
Hospital Affiliations
Maine Medical CenterPortland, Maine
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