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Robert G Best

Explore the profile of Robert G Best including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 28
Citations 455
Followers 0
Related Specialties
Genetics
General Medicine
Public Health
Top 10 Co-Authors
Glenn E Palomaki
Susan Klugman
Edward R Ashwood
Komal Bajaj
Brian G Skotko
Roger E Stevenson
Anthony R Gregg
Kristin G Monaghan
Katie Stoll
Leslie Manace Brenman
Published In
Genet Med
Prenat Diagn
Genet Med Open
J Genet Couns
Am J Ment Retard
Affiliations
Soon will be listed here.
Recent Articles
1.
Exploring current challenges in the technologist workforce of clinical genomics laboratories
Akkari Y, Dobin S, Best R, Leung M
Genet Med Open . 2024 Dec; 1(1):100806. PMID: 39669260
Purpose: Workforce shortages are observed in many sectors of the economy, including clinical genomics laboratories. Although medical technologists are essential for the primary functions of laboratory operations and many institutions...
2.
On the launch of : Disseminating knowledge and wisdom in genomic medicine
Best R, Williams M
Genet Med Open . 2024 Dec; 1(1):100778. PMID: 39669256
No abstract available.
3.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Dungan J, Klugman S, Darilek S, Malinowski J, Akkari Y, Monaghan K, et al.
Genet Med . 2023 Jun; 25(8):100874. PMID: 37378664
No abstract available.
4.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Dungan J, Klugman S, Darilek S, Malinowski J, Akkari Y, Monaghan K, et al.
Genet Med . 2022 Dec; 25(2):100336. PMID: 36524989
Purpose: This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy...
5.
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Best R, Khushf G, Rabin-Havt S, Clayton E, Grebe T, Hagenkord J, et al.
Genet Med . 2022 Mar; 24(3):509-511. PMID: 35253644
No abstract available.
6.
Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020
Lepage N, Wyatt P, Ashwood E, Best R, Long T, Palomaki G
J Med Screen . 2021 Jul; 28(4):405-410. PMID: 34279151
Objective: To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. Setting: The College of...
7.
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
Palomaki G, Chiu R, Pertile M, Sistermans E, Yaron Y, Vermeesch J, et al.
Prenat Diagn . 2020 Oct; 41(10):1222-1232. PMID: 33016373
No abstract available.
8.
Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree
Ronald Funk C, Huey E, May M, Peng Y, Michonova E, Best R, et al.
J Int Med Res . 2020 Apr; 48(4):300060519879293. PMID: 32266845
No abstract available.
9.
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Palomaki G, Bupp C, Gregg A, Norton M, Oglesbee D, Best R
Genet Med . 2019 Nov; 22(3):462-474. PMID: 31700163
Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels...
10.
Response to Johansen Taber et al
Skotko B, Allyse M, Bajaj K, Best R, Leach M, Meredith S, et al.
Genet Med . 2019 Jun; 21(11):2660-2661. PMID: 31155614
No abstract available.