Search Results - "Shkedi, Shiri"

Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis by Millo, Talya, Douiev, Liza, Popper, Dov, Shkedi‐Rafid, Shiri

“…Background Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental…”
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Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy by Libman, Vitalia, Friedlander, Yechiel, Chalk, Michal, Hochner, Hagit, Shkedi‐Rafid, Shiri

“…Background Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete…”
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Clinicians’ attitudes towards parental choice in the era of advanced genomic tests in pregnancy by Macarov, Michal, Meiner, Vardiella, Chalk, Michal, Hochner, Hagit, Shkedi‐Rafid, Shiri

“…Objective Israel is one of the first countries to incorporate chromosomal microarray analysis into routine prenatal care. We explored attitudes of Israeli…”
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Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients by Levin Fridman, Alma, Raz, Aviad, Timmermans, Stefan, Shkedi‐Rafid, Shiri

“…While genomic medicine is becoming an important part of patient care with an ever‐increasing diagnostic yield, communicating variants of uncertain clinical…”
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Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance by Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri P., Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Hochner, Hagit, Shkedi‐Rafid, Shiri

“…Background Chromosomal‐microarray‐analysis (CMA) may reveal susceptibility‐loci (SL) of varied penetrance for autism‐spectrum‐disorder (ASD) and other…”
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Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant by Goldberg, Yael, Laitman, Yael, Ben David, Merav, Bazak, Lily, Lidzbarsky, Gabriel, Salmon, Lina B., Shkedi‐Rafid, Shiri, Barshack, Iris, Avivi, Camila, Darawshe, Malak, Shomron, Noam, Bruchim, Revital, Vinkler, Chana, Yannoukakos, Drakoulis, Fostira, Florentia, Bernstein‐Molho, Rinat, Friedman, Eitan

“…BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1‐TPDS) associated with an increased lifetime risk for…”
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Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy by Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Goldman‐Mellor, Sidra, Israel, Salomon, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri Pinchas, Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Shkedi‐Rafid, Shiri, Hochner, Hagit

“…Background Advanced prenatal genomic technologies can identify risks for adult‐onset (AO) conditions in the fetus, challenging the traditional purpose of…”
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Psychiatric genetic counseling: A mapping exercise by Moldovan, Ramona, McGhee, Kevin A., Coviello, Domenico, Hamang, Anniken, Inglis, Angela, Ingvoldstad Malmgren, Charlotta, Johansson‐Soller, Maria, Laurino, Mercy, Meiser, Bettina, Murphy, Lauren, Paneque, Milena, Papsuev, Oleg, Pawlak, Joanna, Rovira Moreno, Eulàlia, Serra‐Juhe, Clara, Shkedi‐Rafid, Shiri, Laing, Nakita, Voelckel, Marie‐Antoinette, Watson, Melanie, Austin, Jehannine C.

“…Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a…”
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Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants by Bernstein-Molho, Rinat, Friedman, Eitan, Kedar, Inbal, Laitman, Yael, Allweis, Tanir M., Gal-Yam, Einav Nili, Feldman, Hagit Baris, Grinshpun, Albert, Halpern, Naama, Hartmajer, Shulamit, Kadouri, Luna, Katz, Lior H., Kaufman, Bella, Laish, Ido, Levanon, Keren, Philipsborn, Shira Litz, Ludman, Mark, Moran, Gal, Peretz, Tamar, Reinstein, Eyal, Levi, Gili Reznick, Safra, Tamar, Shkedi, Shiri, Vinkler, Chana, Levy, Zohar, Goldberg, Yael

“…Background Carriers of pathogenic variants (PVs) in moderate–high-penetrance cancer susceptibility genes are offered tailored surveillance schemes for early…”
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Defining and managing incidental findings in genetic and genomic practice by Shkedi-Rafid, Shiri, Dheensa, Sandi, Crawford, Gillian, Fenwick, Angela, Lucassen, Anneke

“…The rapidly declining costs and increasing speeds of whole-genome analysis mean that genetic testing is undergoing a shift from targeted approaches to broader…”
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Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder by Dayan, Roy, Shkedi Rafid, Shiri, Baker Erdman, Halen, Weill, Caroline, Shag, Avraham, Meiner, Vardiella, Arkadir, David

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What is the meaning of a 'genomic result' in the context of pregnancy? by Shkedi-Rafid, Shiri, Horton, Rachel, Lucassen, Anneke

“…Prenatal genetic testing and analysis in the past was usually only offered when a particular fetal phenotype was noted or suspected, meaning that filtering and…”
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Egg freezing for age-related fertility decline: preventive medicine or a further medicalization of reproduction? Analyzing the new Israeli policy by Shkedi-Rafid, Shiri, M.Sc, Hashiloni-Dolev, Yael, Ph.D

“…In December 2009, the Israel National Bioethics Council (INBC) issued recommendations permitting egg freezing to prevent both disease- and age-related…”
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Cancer patients’ understandings of genetic variants of uncertain significance in clinical care by Amano, Yael, Raz, Aviad, Timmermans, Stefan, Shkedi-Rafid, Shiri

“…Genetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better…”
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Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification by Fridman, Alma Levin, Raz, Aviad, Timmermans, Stefan, Shkedi-Rafid, Shiri

“…While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of…”
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What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis by Shkedi-Rafid, Shiri, Fenwick, Angela, Dheensa, Sandi, Wellesley, Diana, Lucassen, Anneke M.

“…Objectives This study explored the views of healthcare professionals (HCPs) in the UK about what information should be disclosed, when; and whether…”
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Fetal exome sequencing: yield and limitations in a tertiary referral center by Daum, H., Meiner, V., Elpeleg, O., Harel, T., Bar‐Or, Libat, Eilat, Avital, Fahham, Duha, Gur, Michal, Hacohen, Nuphar, Kimchi, Adva, Macarov, Michal, Porat, Shay, Rosenak, Daniel, Shaag, Avraham, Shkedi‐Rafid, Shiri, Szmulewicz, Adi, Yagel, Simcha, Yanai, Nili, Zvi, Naama, Banne, Ehud, Ben‐Yehoshua, Sagi Josefsberg, Ephron, Noa, Lev, Dorit, Drugan, Arie, Irge, Dana, Mordechai, Shikma, Yehuda, Adi Ben, Freireich, Orit, Segel, Reeval

“…ABSTRACT Objective To explore the indications for and diagnostic outcomes of fetal exome sequencing in a tertiary referral center. Methods Between 2012 and…”
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Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally? by Shkedi-Rafid, Shiri, Hashiloni-Dolev, Yael

“…Advanced genomic tests in pregnancy, such as chromosomal microarray analysis (CMA), provide higher detection rates yet often produce probabilistic and…”
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Abstract P5-08-12: Genetic anticipation among BRCA1/2 mutation carriers with breast cancer by Kedmi, Aviya, Kaduri, Luna, Grinshpun, Albert, Shkedi, Shiri, Meiner, Vardiella, Hamburger, Tamar, Maimon, Ofra, Peretz, Tamar

“…Introduction: There are several reports of an earlier age of diagnosis in successive generation among BRCA1/2 mutation carriers' families, which may indicate…”
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Abstract P4-14-06: Express model of hereditary multigene mutation analysis in breast cancer patients by Grinshpun, Albert, Carmon, Einat, Kaduri, Luna, Zick, Aviad, Shkedi, Shiri, Shalom, Edna, Granit, Avital, Monas, Liza, Shaldovsky, Tamar, Hamburger, Tamar, Meiner, Vardiella, Peretz, Tamar

“…Introduction Traditionally, women with family history of breast and ovarian cancer, or young age at presentation, are referred to BRCA1\2 mutation testing. The…”
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