The d3GHR carrier epigenome in Druze clan longevity
Falah, Ghadeer, Kurolap, Alina, Paperna, Tamar, Ekhilevitch, Nina, Moustafa, Nivin, Damouny-Naoum, Nadine, Amir, Yam, Sharvit, Lital, Moghrabi, Rihan, Hassoun, Gamal, Fares, Fuad, Baris Feldman, Hagit, Atzmon, Gil
Published in Scientific reports (13.09.2024)
Published in Scientific reports (13.09.2024)
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Journal Article
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
Hershkovitz, Tova, Kurolap, Alina, Gonzaga-Jauregui, Claudia, Paperna, Tamar, Mory, Adi, Wolf, Sarah E, Overton, John D, Shuldiner, Alan R, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Published in Journal of human genetics (01.06.2019)
Published in Journal of human genetics (01.06.2019)
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Journal Article
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy
Kurolap, Alina, Eshach-Adiv, Orly, Hershkovitz, Tova, Paperna, Tamar, Mory, Adi, Oz-Levi, Danit, Zohar, Yaniv, Mandel, Hanna, Chezar, Judith, Azoulay, David, Peleg, Sarit, Half, Elizabeth E, Yahalom, Vered, Finkel, Lilach, Weissbrod, Omer, Geiger, Dan, Tabib, Adi, Shaoul, Ron, Magen, Daniella, Bonstein, Lilach, Mevorach, Dror, Baris, Hagit N
Published in The New England journal of medicine (06.07.2017)
Published in The New England journal of medicine (06.07.2017)
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Journal Article
Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis
Khsheibun, Rana, Paperna, Tamar, Volkowich, Anat, Lejbkowicz, Izabella, Avidan, Nili, Miller, Ariel
Published in PloS one (15.07.2014)
Published in PloS one (15.07.2014)
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Journal Article
The ubiquitin-proteasome pathway regulates claudin 5 degradation
Mandel, Ilana, Paperna, Tamar, Volkowich, Anat, Merhav, Maayan, Glass-Marmor, Lea, Miller, Ariel
Published in Journal of cellular biochemistry (01.07.2012)
Published in Journal of cellular biochemistry (01.07.2012)
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Journal Article
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit
Published in Human genomics (28.03.2023)
Published in Human genomics (28.03.2023)
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Journal Article
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report
Pollack, Shirley, Eisenstein, Israel, Mory, Adi, Paperna, Tamar, Ofir, Ayala, Baris-Feldman, Hagit, Weiss, Karin, Veszeli, Nóra, Csuka, Dorottya, Shemer, Revital, Glaser, Fabian, Prohászka, Zoltán, Magen, Daniella
Published in Frontiers in immunology (24.06.2021)
Published in Frontiers in immunology (24.06.2021)
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Journal Article
Interferon-beta induces distinct gene expression response patterns in human monocytes versus T cells
Henig, Noa, Avidan, Nili, Mandel, Ilana, Staun-Ram, Elsebeth, Ginzburg, Elizabeta, Paperna, Tamar, Pinter, Ron Y, Miller, Ariel
Published in PloS one (23.04.2013)
Published in PloS one (23.04.2013)
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Journal Article
Tight junction proteins expression and modulation in immune cells and multiple sclerosis
Mandel, Ilana, Paperna, Tamar, Glass‐Marmor, Lea, Volkowich, Anat, Badarny, Samih, Schwartz, Ilya, Vardi, Pnina, Koren, Ilana, Miller, Ariel
Published in Journal of cellular and molecular medicine (01.04.2012)
Published in Journal of cellular and molecular medicine (01.04.2012)
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Journal Article
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management
Nakhleh Francis, Yara, Hershkovitz, Tova, Ekhilevitch, Nina, Habib, Clair, Ravid, Sarit, Tal, Galit, Schertz, Mitchell, Mory, Adi, Zinger, Amihood, Baris Feldman, Hagit, Zaid, Rinat, Paperna, Tamar, Weiss, Karin
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt
Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N
Published in Rambam Maimonides medical journal (30.07.2018)
Published in Rambam Maimonides medical journal (30.07.2018)
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Journal Article
eP174 - Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience
Weiss, Karin, Hershkovitz, Tova, Ekhilevitch, Nina, Zaid, Rinat, Mory, Adi, Feldman, Hagit Baris, Paperna, Tamar
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience
Weiss, Karin, Hershkovitz, Tova, Ekhilevitch, Nina, Zaid, Rinat, Mory, Adi, Feldman, Hagit Baris, Paperna, Tamar
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Rapid exome sequencing for children with severe acute encephalopathy – A case series
Habib, Clair, Paperna, Tamar, Zaid, Rinat, Ravid, Sarit, Ben Ari, Josef, Tal, Galit, Weiss, Karin, Hershkovitz, Tova
Published in European journal of medical genetics (01.04.2024)
Published in European journal of medical genetics (01.04.2024)
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Journal Article
Tu1225 MUTYH ASSOCIATED POLYPOSIS IN THE NON-JEWISH POPULATION IN NORTHER ISRAEL
Half, Elizabeth E., Reznick-Levi, Gili, Shwartzman, Nitzan Sharon, Maza, Itay, Mori, Adi, Paperna, Tamar, Rennert, Gad, Weiss, Karin, Baris-Feldman, Hagit
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
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Journal Article
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease
Shlomovitz, Omer, Atias-Varon, Danit, Yagel, Dina, Barel, Ortal, Shasha-Lavsky, Hadas, Skorecki, Karl, Eliyahu, Aviva, Bathish, Younes, Frajewicki, Victor, Kushnir, Daniel, Zaid, Rinat, Paperna, Tamar, Ofir, Ayala, Tchirkov, Marina, Hassan, Kamal, Kruzel, Etty, Khazim, Khaled, Geron, Ronit, Weisman, Irit, Hanut, Anaam, Nakhoul, Farid, Kenig-Kozlovsky, Yael, Refael, Gery, Antebi, Alon, Storch, Shimon, Leiba, Marcel, Kagan, Maayan, Shukrun, Rachel, Rechavi, Gidi, Dekel, Benjamin, Ben Moshe, Yishay, Weiss, Karin, Assady, Suheir, Vivante, Asaf
Published in American journal of kidney diseases (01.02.2024)
Published in American journal of kidney diseases (01.02.2024)
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Journal Article
Eculizumab Is Safe and Effective as a Long‐term Treatment for Protein‐losing Enteropathy Due to CD55 Deficiency
Kurolap, Alina, Eshach Adiv, Orly, Hershkovitz, Tova, Tabib, Adi, Karbian, Netanel, Paperna, Tamar, Mory, Adi, Vachyan, Arcadi, Slijper, Nadav, Steinberg, Ran, Zohar, Yaniv, Mevorach, Dror, Baris Feldman, Hagit
Published in Journal of pediatric gastroenterology and nutrition (01.03.2019)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2019)
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