A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genes
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Published in Genome research (01.03.2014)
Published in Genome research (01.03.2014)
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Elevated RNA Editing Activity Is a Major Contributor to Transcriptomic Diversity in Tumors
Paz-Yaacov, Nurit, Bazak, Lily, Buchumenski, Ilana, Porath, Hagit T., Danan-Gotthold, Miri, Knisbacher, Binyamin A., Eisenberg, Eli, Levanon, Erez Y.
Published in Cell reports (Cambridge) (13.10.2015)
Published in Cell reports (Cambridge) (13.10.2015)
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Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
Basel-Salmon, Lina, Orenstein, Naama, Markus-Bustani, Keren, Ruhrman-Shahar, Noa, Kilim, Yael, Magal, Nurit, Hubshman, Monika Weisz, Bazak, Lily
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
Basel-Salmon, Lina, Ruhrman-Shahar, Noa, Orenstein, Naama, Goldberg, Yael, Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Sukenik-Halevy, Rivka, Maya, Idit, Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
Fellner, Avi, Ruhrman-Shahar, Noa, Orenstein, Naama, Lidzbarsky, Gabriel, Shuldiner, Alan R., Gonzaga-Jauregui, Claudia, Brown-Shalev, Hadar, Hagari-Bechar, Ofir, Bazak, Lily, Basel-Salmon, Lina
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
Levy, Michal, Bazak, Lily, Lev-El, Noa, Greenberg, Rotem, Kropach, Nesia, Basel-Salmon, Lina, Maya, Idit
Published in Genes (23.09.2023)
Published in Genes (23.09.2023)
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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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Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Michaelson-Cohen, Rachel, Salzer-Sheelo, Liat, Sukenik-Halevy, Rivka, Koifman, Arie, Fellner, Avi, Reches, Adi, Marom, Daphna, Behar, Doron M., Sofrin-Drucker, Efrat, Zaks-Hoffer, Gal, Weiss-Hubshmann, Monika, Oresntein, Naama, Kropach-Gilad, Nesia, Rhurman-Shahar, Noa, Averbuch, Noa Shefer, Magal, Nurit, Bazak, Lily, Josefberg, Sagi, Matar, Reut, Goldberg, Yael, Shohat, Mordechai, Basel-Salmon, Lina, Maya, Idit
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
Abu Shtaya, Aasem, Kedar, Inbal, Bazak, Lily, Basel-Salmon, Lina, Barhom, Sarit Farage, Naftali, Michal, Eskin-Schwartz, Marina, Birk, Ohad S, Polager-Modan, Shirley, Keidar, Nitzan, Reznick Levi, Gili, Levi, Zohar, Yablonski-Peretz, Tamar, Mahamid, Ahmad, Segol, Ori, Matar, Reut, Bareli, Yifat, Azoulay, Noy, Goldberg, Yael
Published in Genes (13.03.2024)
Published in Genes (13.03.2024)
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P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
Shtaya, Aasem Abu, Kedar, Inbal, Bazak, Lily, Basel-Salmon, Lina, Naftali, Michal, Eskin-Schwartz, Marina, Birk, Ohad, Polager-Modan, Shirley, Keidar, Nitzan, Levi, Gili Reznick, Levi, Zohar, Segol, Ori, Azulay, Noy, Goldberg, Yael
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas
Basel-Salmon, Lina, Ruhrman-Shahar, Noa, Orenstein, Naama, Levy, Michal, Lidzbarsky, Gabriel A., Batzir, Nurit A., Lifshitc-Kalis, Marina, Farage-Barhom, Sarit, Abel, Gali, Petasny, Mayra, Brabbing-Goldstein, Dana, Fellner, Avi, Bazak, Lily
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Refining the Phenotypic Spectrum of KMT5B -Associated Developmental Delay
Eliyahu, Aviva, Barel, Ortal, Greenbaum, Lior, Zaks Hoffer, Gal, Goldberg, Yael, Raas-Rothschild, Annick, Singer, Amihood, Bar-Joseph, Ifat, Kunik, Vered, Javasky, Elisheva, Staretz-Chacham, Orna, Pode-Shakked, Naomi, Bazak, Lily, Ruhrman-Shahar, Noa, Pras, Elon, Frydman, Moshe, Shohat, Mordechai, Pode-Shakked, Ben
Published in Frontiers in pediatrics (30.03.2022)
Published in Frontiers in pediatrics (30.03.2022)
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A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum
Regev, Miriam, Dori, Amir, Altarescu, Gheona, Barel, Ortal, Basel-Salmon, Lina, Greenbaum, Lior, Fellner, Avi, Pras, Elon, Shamash, Jana, Meiner, Vardiela, Bazak, Lily, Goldberg, Yael
Published in Gene (15.11.2024)
Published in Gene (15.11.2024)
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High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease
Abu Shtaya, Aasem, Orenstein, Naama, Bazak, Lily, Lidzbarsky, Gabriel, Kalis, Marina Lifshitc, Amarilyo, Gil, Sofrin-Drucker, Efrat, Jaron, Ranit, Shahar, Noa Ruhrman, Gilad, Nesia Kropach, Basel-Salmon, Lina
Published in Pediatric research (11.05.2024)
Published in Pediatric research (11.05.2024)
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1063 Prenatal Exome in low-risk pregnancies and apparently normal fetuses – the rate of abnormal findings
Levy, Michal, Lifshitz, Shira, Goldenberg-Fumanov, Mirela, Bazak, Lily, Goldshtein, Rayna Joy, Hamiel, Uri, Ziskind, Yael Wilnai, Berger, Rachel, Lipitz, Shlomo, Shohat, Mordechai
Published in American journal of obstetrics and gynecology (01.01.2024)
Published in American journal of obstetrics and gynecology (01.01.2024)
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Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Levy, Michal, Lifshitz, Shira, Goldenberg-Fumanov, Mirela, Bazak, Lily, Goldstein, Rayna Joy, Hamiel, Uri, Berger, Rachel, Lipitz, Shlomo, Maya, Idit, Shohat, Mordechai
Published in Prenatal diagnosis (12.05.2024)
Published in Prenatal diagnosis (12.05.2024)
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Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel
Orenstein, Naama, Glassberg, Yael Mozer, Shkalim-Zemer, Vered, Basel-Salmon, Lina, Averbuch, Noa Shefer, Lagovsky, Irina, Mark, Anat Guz, Amir, Achiya Z., Bazak, Lily, Cooper, Shiri, Goldberg, Yael
Published in Gene (15.12.2023)
Published in Gene (15.12.2023)
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Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
Brabbing-Goldstein, Dana, Bazak, Lily, Ruhrman-Shahar, Noa, Lidzbarsky, Gabriel Arie, Orenstein, Naama, Lifshiz-Kalis, Marina, Asia-Batzir, Nurit, Goldberg, Yael, Basel-Salmon, Lina
Published in Prenatal diagnosis (05.09.2024)
Published in Prenatal diagnosis (05.09.2024)
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