Search Results - "Shkedi-Rafid S"

Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder BRCA1/2 and LRRK2 Mutations.

Authors: Shkedi-Rafid, S. Ofer-Bialer, G. Meiner, V. et al.

Source: Public Health Genomics. Aug2013, Vol. 16 Issue 4, p174-183. 10p. 1 Chart, 1 Graph.

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.

Authors: Stern, S. Hacohen, N. Meiner, V. et al.

Source: Ultrasound in Obstetrics & Gynecology. May2021, Vol. 57 Issue 5, p813-820. 8p.

Role of late amniocentesis in the era of modern genomic technologies.

Authors: collaborating authors Daum, H. Zenvirt, S. et al.

Source: Ultrasound in Obstetrics & Gynecology. May2019, Vol. 53 Issue 5, p676-685. 10p.

OC02.05: What is the chance for pathogenic chromosomal microarray analysis results in structurally normal fetuses?

Authors: Daum, H. Stern, S. Meiner, V. et al.

Source: Ultrasound in Obstetrics & Gynecology. Oct2019 Supplement S1, Vol. 54, p4-5. 2p.

EP11.03: The impact of late amniocentesis in the chromosomal microarray era.

Authors: Daum, H. Ben‐David, A. Nadjari, M. et al.

Source: Ultrasound in Obstetrics & Gynecology. Oct2018 Supplement S1, Vol. 52, p243-244. 2p.

OC20.07: Fetal exome sequencing: yield and limitations observed in a single tertiary centre.

Authors: Daum, H. Meiner, V. Eilat, A. et al.

Source: Ultrasound in Obstetrics & Gynecology. Oct2018 Supplement S1, Vol. 52, p49-49. 1p.

Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.

Authors: Daum, H. Nadjari, M. Zlotogora, J. et al.

Source: Ultrasound in Obstetrics & Gynecology. Sep2016 Supplement, Vol. 48, p170-170. 1p.

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.

Authors: Shir D Bregman N David AB et al.

Source: European journal of neurology [Eur J Neurol] 2026 Jun; Vol. 33 (6), pp. e70649.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

The new frontier in assisted reproduction : Consumer Desire vs. Regulatory and Ethical Precaution in AI-assisted Polygenic Embryo Screening.

Authors: Raz A Halsband A Langner R et al.

Source: EMBO reports [EMBO Rep] 2026 Jan; Vol. 27 (2), pp. 265-268. Date of Electronic Publication: 2025 Dec 10.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE; In Process

Breast cancer phenotypes in carriers of pathogenic POT1 variants.

Authors: Hadar T Abu Shtaya A Bernstein-Molho R et al.

Source: Familial cancer [Fam Cancer] 2026 Jul 10; Vol. 25 (3). Date of Electronic Publication: 2026 Jul 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.

Authors: Arnon J Zick A Maoz M et al.

Source: Familial cancer [Fam Cancer] 2024 Nov; Vol. 23 (4), pp. 531-542. Date of Electronic Publication: 2024 May 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations.

Authors: Shkedi-Rafid S Raz A Sabatello M et al.

Source: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2025 Nov; Vol. 42 (11), pp. 3713-3721. Date of Electronic Publication: 2025 Sep 27.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.

Authors: Libman V Macarov M Friedlander Y et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 270-279. Date of Electronic Publication: 2024 Jan 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy.

Authors: Libman V Friedlander Y Chalk M et al.

Source: Prenatal diagnosis [Prenat Diagn] 2023 Jun; Vol. 43 (6), pp. 773-780. Date of Electronic Publication: 2023 Mar 07.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

Authors: Libman V Macarov M Friedlander Y et al.

Source: Prenatal diagnosis [Prenat Diagn] 2022 Jul; Vol. 42 (8), pp. 1038-1048. Date of Electronic Publication: 2022 May 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.

Authors: Lieberman S Chen-Shtoyerman R Levi Z et al.

Source: Breast cancer research and treatment [Breast Cancer Res Treat] 2022 May; Vol. 193 (1), pp. 217-224. Date of Electronic Publication: 2022 Mar 12.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7217 (Electronic) Linking ISSN: 01676806 NLM ISO Abbreviation: Breast Cancer Res Treat Subsets: MEDLINE

Clinicians' attitudes towards parental choice in the era of advanced genomic tests in pregnancy.

Authors: Macarov M Meiner V Chalk M et al.

Source: Prenatal diagnosis [Prenat Diagn] 2021 Aug; Vol. 41 (9), pp. 1066-1073. Date of Electronic Publication: 2021 Jul 19.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.

Authors: Dayan R Shkedi Rafid S Baker Erdman H et al.

Source: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Mar; Vol. 11 (3), pp. 306-308. Date of Electronic Publication: 2024 Jan 31.

Publication Type: Letter

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Authors: Goldberg Y Laitman Y Ben David M et al.

Source: Human mutation [Hum Mutat] 2021 May; Vol. 42 (5), pp. 592-599. Date of Electronic Publication: 2021 Mar 03.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis.

Authors: Millo T Douiev L Popper D et al.

Source: Prenatal diagnosis [Prenat Diagn] 2021 Feb; Vol. 41 (3), pp. 376-383. Date of Electronic Publication: 2020 Nov 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE