Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

Autor: Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V. Malicdan, Yair Anikster

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing vari

Externí odkaz: https://doaj.org/article/d052a0aa8c6c4f508f394a32a1bea017

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

Autor: Michal Macarov, Michal Chalk, Hagit Hochner, Vardiella Meiner, Shiri Shkedi-Rafid

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4946c447604696a443d1d665476828
https://doi.org/10.1002/pd.6010

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Autor: Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm

Publikováno v: Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identifie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59c959649cc3aebd8383c0371b972af
https://doi.org/10.1038/s41431-020-00790-w

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d84bb221a1846629b87a80e4aadac4
https://pubmed.ncbi.nlm.nih.gov/35484937

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1

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