Monica A. Giovanni, MS, CGC
机构: Director of Clinical Genomics Strategy, Geisinger Health System
每年引用次数
引用次数
引用: 2,814
H-指数: 17
I10-指数 : 19
出版物: 29
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
B. Coste , G. Houge , M. F. Murray , N. Stitziel
Proceedings of the National Academy of Sciences of the United States of America 110 ( 12) 4667 -4672
218
2013
Consumer knowledge and handling of tree nuts: food safety implications
Louise E Lee , DIANE METz , MARIA GIOvANNI , ChRISTINE M BRUhN
Food Protection Trends 31 ( 1) 18 -27
33
2011
Bringing monogenic disease screening to the clinic.
Michael F. Murray , Monica A. Giovanni
Nature Medicine 26 ( 8) 1172 -1174
4
2020
Comparing electronic health record portals to obtain patient-entered family health history in primary care.
Michael F. Murray , Monica A. Giovanni , Elissa Klinger , Elise George
Journal of General Internal Medicine 28 ( 12) 1558 -1564
27
2013
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
Marci L.B. Schwartz , Cara Zayac McCormick , Amanda L. Lazzeri , D’Andra M. Lindbuchler
American Journal of Human Genetics 103 ( 3) 328 -337
125
2018
Obtaining a Genetic Family History Using Computer-Based Tools
Weilong Li , Michael F. Murray , Monica A. Giovanni
Current protocols in human genetics 100 ( 1)
2
2019
Risks of Presymptomatic Direct-to-Consumer Genetic Testing
Justin P. Annes , Monica A. Giovanni , Michael F. Murray
New England Journal of Medicine 363 ( 12) 1100 -1101
48
2010
COVID-19 outcomes and the human genome.
Michael F. Murray , Eimear E. Kenny , Marylyn D. Ritchie , Daniel J. Rader
Genetics in Medicine 22 ( 7) 1175 -1177
63
2020
Genome-first findings require precision phenotyping.
Monica A. Giovanni , Michael F. Murray
Genetics in Medicine 20 ( 12) 1510 -1511
4
2018
The application of computer-based tools in obtaining the genetic family history
Monica A. Giovanni , Michael F. Murray
Current protocols in human genetics 66 ( 1)
17
2010
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Noura S. Abul-Husn , Kandamurugu Manickam , Laney K. Jones , Eric A. Wright
Science 354 ( 6319)
206
2016
Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Andrey Shuvarikov , Ian M. Campbell , Piotr Dittwald , Nicholas J. Neill
Human Mutation 34 ( 10) 1415 -1423
35
2013
Health-Care Referrals from Direct-to-Consumer Genetic Testing
Monica A. Giovanni , Matthew R. Fickie , Lisa S. Lehmann , Robert C. Green
Genetic Testing and Molecular Biomarkers 14 ( 6) 817 -819
47
2010
Clinical Genomics: Practical Applications for Adult Patient Care
Michael F. Murray (Physician) , Mark Babyatski, MD , Monica A. Giovanni , Fowzan S. Alkuraya
Smpte Journal
2013
Lysosomal Acid Lipase Deficiency
Monica A Giovanni , Michael F Murray , Erin P Hoffman , Marci L Barr
University of Washington, Seattle
29
2016
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
Michael F Murray , Monica A Giovanni , Debra L Doyle , Steven M Harrison
Genetics in Medicine 1 -7
30
2021
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A Brownstein , Alan H Beggs , Nils Homer , Barry Merriman
Genome Biology 15 ( 3) 1 -18
332
2014
The Geisinger-Regeneron Initiative: A New Kind of Genomics Research Collaboration
Michael Murray , David J Carey , F Daniel Davis , W Andy Faucett
Report, Geisinger Health Systems
1
2014
Future Challenges and Opportunities in Clinical Cancer Genomics
Kyle A Glose , Monica A Giovanni , Michael F Murray
Cancer Genetics: A Clinical Approach 431 -431
2021
Use of Personalized Genomic Information
Monica A Giovanni , Michael F Murray
eLS