Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Amihood, Singer"'
Autor:
Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder va
Externí odkaz:
https://doaj.org/article/98d73e2983624db18de54e83054016dd
Autor:
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated
Externí odkaz:
https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd
Autor:
Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in KMT5B were implicated in individuals with intellectual disability (ID
Externí odkaz:
https://doaj.org/article/8342e62b779147fdbc13b6a3c37a4529
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Introduction: Following the wide distribution of non-invasive prenatal genetic screening (NIPS), numerous studies have reported a decline in total invasive tests in the recent years, up to 50–70% in some countries. However, in Denmark and Israel we
Externí odkaz:
https://doaj.org/article/837d6e54c04e4c5eab9a6e01afad5d31
Autor:
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin read
Externí odkaz:
https://doaj.org/article/b1560623a9ca450d95e163da44e0576c
Autor:
Lena Sagi-Dain, Idit Maya, Michal Feingold-Zadok, Shay Ben Shachar, Amihood Singer, Anat Bar-Shira, Tzipora C. Falik-Zaccai, Amir Peleg
Publikováno v:
Archives of Gynecology and Obstetrics. 304:649-656
To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios. Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4847ed6aedbcb48619b0f14200452381
https://doi.org/10.1007/s00404-021-05995-y
https://doi.org/10.1007/s00404-021-05995-y
Autor:
Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat
Publikováno v:
Clin Genet
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7
https://doi.org/10.1111/cge.13817
https://doi.org/10.1111/cge.13817
Autor:
Amihood Singer, Morad Khayat, Rachel Michaelson-Cohen, Hagit Daum, Lena Sagi-Dain, Keren Tzadikevitch Geffen, Shay Ben-Shachar, Rivka Sukenik Halevy, Michal Feingold-Zadok, Idit Maya
Publikováno v:
Archives of Gynecology and Obstetrics. 303:85-92
To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. The study cohort was based on cases of chromosomal mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a3c0131402b0b5926ab940d26230949
https://doi.org/10.1007/s00404-020-05729-6
https://doi.org/10.1007/s00404-020-05729-6
Autor:
Morad Khayat, Yael Pasternak, Rivka Sukenik Halevy, Sharon Zeligson, Shay Ben-Shachar, Amihood Singer, Lena Sagi-Dain, Michal Feingold-Zadok, Lior Greenbaum, Idit Maya
Publikováno v:
Journal of Perinatal Medicine. 48:553-558
Objectives Chromosomal microarray analysis (CMA) is the method of choice for genetic work-up in cases of fetal malformations. We assessed the detection rate of CMA in cases of abnormal fetal head circumference (HC). Methods The study cohort was based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e628d1d8437bfb3b57e9b8602f0baab
https://doi.org/10.1515/jpm-2020-0048
https://doi.org/10.1515/jpm-2020-0048
Autor:
Lena Sagi-Dain, Amihood Singer
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica. 99:802-808
Introduction The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93e173837a50c98ed362161dbe08917d
https://doi.org/10.1111/aogs.13858
https://doi.org/10.1111/aogs.13858