Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Shiri Shkedi-Rafid"'
Publikováno v:
Journal of Community Genetics. 13:381-388
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 analysis of semi-structured intervi
Publikováno v:
Prenatal Diagnosis.
Publikováno v:
Journal of Genetic Counseling. 31:912-921
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 qualitative analysis of semi-structu
Publikováno v:
Prenatal Diagnosis. 41:1066-1073
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 findings: variants of unc
Autor:
Revital Bruchim, Shiri Shkedi-Rafid, Rinat Bernstein-Molho, Iris Barshack, Eitan Friedman, Chana Vinkler, Camila Avivi, Drakoulis Yannoukakos, Yael Laitman, Gabriel Arie Lidzbarsky, Florentia Fostira, Noam Shomron, Merav Akiva Ben David, Lily Bazak, Yael Goldberg, Malak Darawshe, Lina Basel Salmon
Publikováno v:
Human Mutation. 42:592-599
BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1-TPDS) associated with an increased lifetime risk for developing primarily pleural and peritoneal mesothelioma and uveal and cutaneous melanoma. Ov
Autor:
Vitalia Libman, Michal Macarov, Yechiel Friedlander, Sidra Goldman‐Mellor, Salomon Israel, Drorith Hochner‐Celnikier, Yishai Sompolinsky, Uri Pinchas Dior, Michael Osovsky, Lina Basel‐Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Shiri Shkedi‐Rafid, Hagit Hochner
Publikováno v:
Prenatal diagnosis. 42(8)
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 actionable cond
Publikováno v:
Eur J Hum Genet
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 interpretation of genetic variants identified could be anchored in attempts to explain an
Publikováno v:
Journal of Community Genetics
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 challenge. Although peri
Autor:
Hagit Daum, Reeval Segel, Vardiella Meiner, Yael Goldberg, Sharon Zeligson, Omri Weiss, Shira Stern, Ayala Frumkin, Shamir Zenvirt, Gael Ganz, Shiri Shkedi-Rafid
Publikováno v:
Journal of medical genetics.
BackgroundCopy 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 at two tertiary ce
Autor:
Ruth Eliahou, Mark Andrew Hellmann, Lili Bazak, Hagit Yonath, Oded Shor, Lina Basel-Salmon, Elon Pras, Adi Wilf-Yarkoni, Avi Fellner, Lior Greenbaum, Yael Goldberg, Shiri Shkedi-Rafid, Felix Benninger, Hadas Stiebel-Kalish
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship.MethodsThe cl