Rosemarie Smith MD

Clinical Biochemical Genetics, Clinical Genetics

Physician

Education & Training

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

PubMed

1 citations
Correction 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
Genetics in Medicine. 2021-12-01
9 citations
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer
EMBO Molecular Medicine. 2021-11-15
15 citations
MYT1L-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
Human Genetics. 2021-11-08

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