Search Results - "Shkedi-Rafid, S."

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

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

Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing.

Authors: Verheyen, Sarah Pertl, Barbara Bierbaumer, Sophie et al.

Source: Medizinische Genetik. Apr2026, Vol. 38 Issue 2, p99-110. 12p.

Waisman Syndrome: A Novel RAB39B Mutation in X‐Linked Parkinsonism with Basal Ganglia Calcification and Literatures Review.

Authors: Zhang, Jinglin Zhang, Lei Shi, Lu

Source: Movement Disorders Clinical Practice. Nov2025, Vol. 12 Issue 11, p2021-2023. 3p.

Neutropenia Through Enhanced Neutrophil Apoptosis and Secondary Necrosis in Wolfram Syndrome 1.

Alternate Title: Wolfram Sendromu 1'de Artmış Nötrofil Apoptozu ve Sekonder Nekrozuna Bağlı Nötropeni.

Authors: Aslan, Deniz Kayhan, Handan

Source: Turkish Journal of Hematology. 2026, Vol. 43 Issue 1, p96-100. 5p.

Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell‐Free DNA Screening Results in Southwest China.

Authors: Chen, Yun Lai, Yunli Xu, Fuben et al.

Source: Journal of Pregnancy. 11/12/2025, Vol. 2025, p1-8. 8p.

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

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

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

Source: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2019 May; Vol. 53 (5), pp. 676-685. Date of Electronic Publication: 2019 Apr 12.

Publication Type: Evaluation Study; Journal Article

Journal Info: Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE

In vitro maturation in women with polycystic ovary syndrome: current advances and emerging roles of artificial intelligence.

Authors: Phung, Thu Minh Nguyen, Hao Chi Ho, Dang Ngoc et al.

Source: Middle East Fertility Society Journal. 5/25/2026, Vol. 31 Issue 1, p1-26. 26p.

Next-generation nephrology: part 2—mainstreaming genomics in nephrology, a global perspective.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2779-2793. 15p.

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.

Authors: Chang, Jiazhen Li, Mengmeng Jiang, Yulin et al.

Source: BMC Pregnancy & Childbirth. 9/1/2025, Vol. 25 Issue 1, p1-11. 11p.

Reproductive Autonomy in Light of Expanded Prenatal Genomic Testing.

Authors: Holmes, Isabella MacKay, Kathryn McDougall, Rosalind et al.

Source: American Journal of Bioethics. Dec2025, Vol. 25 Issue 12, p19-31. 13p.

Experience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study.

Authors: Godino, Lea Magi, Camilla Elena Bruzzone, Carla et al.

Source: BMC Nursing. 1/20/2025, Vol. 24 Issue 1, p1-13. 13p.

Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.

Authors: Morandi, Anita Fornari, Elena Corradi, Massimiliano et al.

Source: Pediatric Obesity. Dec2024, Vol. 19 Issue 12, p1-9. 9p.

Genetic Testing for GBA and LRRK2 Mutations: Is it Time for Routine Use?

Authors: Roopnarain, Karisha Klein, Christine

Source: Movement Disorders Clinical Practice. 2023 Supplement, Vol. 10 Issue 1, pS26-S31. 6p.

Circum-Mediterranean influence in the Y-chromosome lineages associated with prostate cancer in Mexican men: A Converso heritage founder effect?

Authors: Álvarez-Topete, Esmeralda Torres-Sánchez, Luisa E. Hernández-Tobías, Esther A. et al.

Source: PLoS ONE. 8/16/2024, Vol. 19 Issue 8, p1-33. 33p.

Capacities and Limitations of Using Polygenic Risk Scores for Reproductive Decision Making.

Authors: Barlevy, Dorit Lencz, Todd Carmi, Shai et al.

Source: American Journal of Bioethics. Feb2022, Vol. 22 Issue 2, p42-45. 4p.

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.

Authors: Jauregui, Ruben Abreu, Nicolas J. Golan, Shani et al.

Source: Brain Sciences (2076-3425). Jul2023, Vol. 13 Issue 7, p1030. 10p.

The Relationship Between Perinatal Grief and Spiritual Well-Being in Women Experiencing Termination Due to Fetal Anomaly in Türkiye.

Authors: Sarı T Harkin Gemicioğlu Ş

Source: Journal of religion and health [J Relig Health] 2026 Apr; Vol. 65 (2), pp. 2129-2142. Date of Electronic Publication: 2025 Dec 25.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 2985199R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-6571 (Electronic) Linking ISSN: 00224197 NLM ISO Abbreviation: J Relig Health Subsets: MEDLINE

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies.

Authors: Ren, Shiwei Gu, Wenjing Liu, Ting et al.

Source: PLoS ONE. 10/28/2025, Vol. 20 Issue 10, p1-15. 15p.