Shiri Shkedi-Rafid
Overview
Explore the profile of Shiri Shkedi-Rafid including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
29
Citations
343
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Arnon J, Zick A, Maoz M, Salaymeh N, Gugenheim A, Marouani M, et al.
Fam Cancer
. 2024 May;
23(4):531-542.
PMID: 38743206
TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we describe the clinical phenotype and genetic characteristics of carriers of NM_000546.6 (TP53): c.541C > ...
2.
Libman V, Macarov M, Friedlander Y, Hochner-Celnikier D, Sompolinsky Y, Dior U, et al.
Prenat Diagn
. 2024 Jan;
44(3):270-279.
PMID: 38221678
Background: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied. Methods: A...
3.
Abu Shtaya A, Kedar I, Mattar S, Mahamid A, Basel-Salmon L, Barhom S, et al.
Cancers (Basel)
. 2024 Jan;
16(1).
PMID: 38201524
Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed,...
4.
Libman V, Friedlander Y, Chalk M, Hochner H, Shkedi-Rafid S
Prenat Diagn
. 2023 Feb;
43(6):773-780.
PMID: 36828779
Background: Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualitative study provides empirical data on...
5.
Amano Y, Raz A, Timmermans S, Shkedi-Rafid S
J Community Genet
. 2022 May;
13(4):381-388.
PMID: 35616809
Genetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better understand patient perspectives of VUSs, we draw on qualitative...
6.
Libman V, Macarov M, Friedlander Y, Goldman-Mellor S, Israel S, Hochner-Celnikier D, et al.
Prenat Diagn
. 2022 Apr;
42(8):1038-1048.
PMID: 35484937
Background: Advanced prenatal genomic technologies can identify risks for adult-onset (AO) conditions in the fetus, challenging the traditional purpose of prenatal testing. Professional guidelines commonly support disclosure of high-penetrance AO...
7.
Daum H, Segel R, Meiner V, Goldberg Y, Zeligson S, Weiss O, et al.
J Med Genet
. 2022 Mar;
60(1):99-105.
PMID: 35264407
Background: Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here, we critically review the cases...
8.
Levin Fridman A, Raz A, Timmermans S, Shkedi-Rafid S
J Genet Couns
. 2022 Feb;
31(4):912-921.
PMID: 35122362
While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on...
9.
Levin Fridman A, Raz A, Timmermans S, Shkedi-Rafid S
J Community Genet
. 2021 Oct;
13(1):13-18.
PMID: 34609721
While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major...
10.
Macarov M, Meiner V, Chalk M, Hochner H, Shkedi-Rafid S
Prenat Diagn
. 2021 Jul;
41(9):1066-1073.
PMID: 34259341
Objective: Israel is one of the first countries to incorporate chromosomal microarray analysis into routine prenatal care. We explored attitudes of Israeli healthcare professionals (HCPs) towards the disclosure of challenging...