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

459 citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara
Nature Genetics. 2010-03-01
84 citations
Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis
Robert C. Bauer, Ayanna O. Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J.D. Morrissette
Human Mutation. 2010-05-01
404 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

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