Concepedia

Rosemarie Smith

RS

Statistics

Publications

30

Citations

3.7K

H-Index

25

Active since

1999

Affiliations

Maine Medical Center(Current)

Maine Medical Center

Boston Children's Hospital

University of Washington

Children's Hospital of Philadelphia

Rosemarie Smith is an author at Maine Medical Center specializing in genetics, molecular genetics, and life sciences.

Publications per year

1999–2023

30

Publications

30

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

, , +10

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 634 citations · Full text

, , +16

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 241 citations · Full text

, , +6

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehli̇van et al. · Nature Genetics · 2011 · 229 citations

, , +7

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Jeff M. Milunsky, Tom A. Maher, Geping Zhao et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

, , +12

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