RosemarieSmithMD

Clinical Biochemical Genetics, Clinical Genetics

Physician

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Office
1577 Congress St
Portland, ME 04102
Phone+1 207-662-1622

Fax+1 207-774-1814

Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 1996 - 1999
University of RochesterResidency, Pediatrics, 1993 - 1996
University of Massachusetts Medical SchoolClass of 1993

PubMed

403 citations
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman
The New England Journal of Medicine. 2012-10-03
46 citations
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel
Human Genetics. 2018-05-08
26 citations
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
Genetics in Medicine. 2021-04-01

Journal Articles

Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy Patients
Karen 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

An Autosomal Dominant Neurological Disorder Caused by De Novo Variants in FAR1 Resulting in Uncontrolled Synthesis of Ether LipidsNovember 26th, 2020