Jennifer Friedman - Concepedia

Author

Jennifer Friedman

University of California San Diego ORCID

Also Known As

Ali Torkamani, Anna Znaczko, Diane Masser-Frye, Friedman, Jennifer, J Friedman, J. Friedman, J. R. Friedman, J.R. Friedman, J.R. L. Friedman, JENNIFER FRIEDMAN

181

Publications

4.5K

Citations

H-Index

112

Concepts

All Affiliations

University of California San Diego Rady Children's Hospital-San Diego Children’s Institute Harvard University Massachusetts General Hospital

About

Jennifer Friedman is an author at University of California San Diego specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	1K
2	Health Sciences	4	4	162
3	Natural Sciences	1	1	29
4	Nursing	1	1	12
5	Public Health	1	1	104

Jennifer Friedman

Publications

3.9K

Citations

H-Index

Page 1

	Year	Citations
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, npj Genomic Medicine	2018	438
Whole-Genome Sequencing for Optimized Patient Management Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Science Translational Medicine	2011	300
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation Michelle M. Clark, Amber Hildreth, Serge Batalov, Science Translational Medicine	2019	288
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm David Dimmock, Michelle M. Clark, Mary Gaughran, The American Journal of Human Genetics SequencingNeonatologyNewborn ScreeningLow Perceived HarmMedicine	2020	180
Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism Joanne Leung, Christine Klein, Jennifer Friedman, Neurogenetics Early Onset ParkinsonismNovel MutationGenetic DisorderParkinson DiseaseGenetics	2001	166
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, The American Journal of Human Genetics	2017	159
De novo <i>KCNB1</i> mutations in epileptic encephalopathy Ali Torkamani, Kevin Bersell, Benjamin S. Jorge, Annals of Neurology	2014	143
Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic <i>TOR1A</i> gene carrier status to dystonic storm Puneet Opal, Ron Tintner, Joseph Jankovic, Movement Disorders	2002	132
Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia Yingzhang Chen, Jennifer Friedman, Donghui Chen, Annals of Neurology	2014	123
<i>ADCY5</i> -related dyskinesia Donghui Chen, Aurélie Méneret, Jennifer Friedman, Neurology	2015	117

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