Peter Benn
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Explore the profile of Peter Benn including associated specialties, affiliations and a list of published articles.
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Articles
85
Citations
954
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Recent Articles
1.
Benn P, Wang Y, Gray J, Dugan E, Hajjar M, Prigmore B, et al.
Genet Med
. 2024 Dec;
27(3):101345.
PMID: 39688110
Purpose: To review biotinidase gene (BTD) variants identified in a large, diverse, reproductive carrier screening (RCS) cohort and outline management of heterozygotes with pathogenic or likely pathogenic (P/LP) variants. Methods:...
2.
Benn P, Merrion K
Eur J Hum Genet
. 2024 Sep;
PMID: 39341985
Robertsonian translocations (robs) are associated with a high risk for unbalanced segregations. Preimplantation Genetic Testing (PGT) offers an early opportunity to evaluate segregation patterns and selection against chromosome imbalances. The...
3.
Benn P, Zhang J, Lyons D, Xu W, Leonard S, Demko Z
Prenat Diagn
. 2024 Jul;
44(10):1218-1224.
PMID: 38991760
Background: Noninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell-free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for...
4.
Souter V, Becraft E, Brummitt S, Gall B, Prigmore B, Wang Y, et al.
Circ Genom Precis Med
. 2024 Mar;
17(2):e004457.
PMID: 38506081
Background: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the gene in female individuals receiving reproductive...
5.
Williams 3rd J, Benn P
Prenat Diagn
. 2023 Nov;
44(4):527-528.
PMID: 37991283
No abstract available.
6.
Benn P, Cuckle H
Clin Obstet Gynecol
. 2023 Aug;
66(3):536-556.
PMID: 37650667
Although nearly all noninvasive prenatal testing is currently based on analyzing circulating maternal cell-free DNA, the technical methods usedvary considerably. We review the different methods. Based on validation trials and...
7.
Souter V, Prigmore B, Becraft E, Repass E, Smart T, Sanapareddy N, et al.
Obstet Gynecol
. 2023 Aug;
142(5):1208-1216.
PMID: 37562044
Objective: To identify conditions on a reproductive carrier screening panel with the potential for carrier manifestations during pregnancy and review the implications for obstetric care. Methods: This was a retrospective...
8.
9.
Grati F, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, et al.
Prenat Diagn
. 2022 Nov;
42(13):1575-1586.
PMID: 36403097
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by...
10.
Gall B, Smart T, Munch R, Kolluri S, Tadepally H, Lim K, et al.
Mol Genet Genomic Med
. 2022 Nov;
10(12):e2085.
PMID: 36333997
Background: Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand-alone basis. The purpose of this study was to evaluate...