Search Results - "Orenstein, Naama"

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested by Basel-Salmon, Lina, Orenstein, Naama, Markus-Bustani, Keren, Ruhrman-Shahar, Noa, Kilim, Yael, Magal, Nurit, Hubshman, Monika Weisz, Bazak, Lily

“…Purpose Reanalysis of exome sequencing data when results are negative may yield additional diagnoses. We sought to estimate the contribution of clinical…”
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When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation by 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

“…Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in…”
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The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders by 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

“…To investigate the effectiveness of phenotype-based search approaches using publicly available online databases. We included consecutively solved cases from…”
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White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology by Zerem, Ayelet, Ben-Sira, Liat, Vigdorovich, Nitzan, Leibovitz, Zvi, Fisher, Yael, Schiffmann, Raphael, Grishchuk, Yulia, Misko, Albert L., Orenstein, Naama, Lev, Dorit, Lerman-Sagie, Tally, Kidron, Debora

“…Mucolipidosis type IV (MLIV; OMIM 252,650) is an autosomal recessive lysosomal disorder caused by mutations in MCOLN1. MLIV causes psychomotor impairment and…”
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Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis by Steinberg-Shemer, Orna, Orenstein, Naama, Krasnov, Tanya, Noy-Lotan, Sharon, Marcoux, Nathaly, Dgany, Orly, Yacobovich, Joanne, Gilad, Oded, Shabad, Evelyn, Basel-Salmon, Lina, Tamary, Hannah

“…The transcription factor MEIS1 (myeloid ectotrophic insertion site 1) is crucial for the maintenance of hematopoietic stem cells and for megakaryopoiesis…”
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Congenital myasthenic syndrome in Israel: Genetic and clinical characterization by Aharoni, Sharon, Sadeh, Menachem, Shapira, Yehuda, Edvardson, Simon, Daana, Muhannad, Dor-Wollman, Talia, Mimouni-Bloch, Aviva, Halevy, Ayelet, Cohen, Rony, Sagie, Liora, Argov, Zohar, Rabie, Malcolm, Spiegel, Ronen, Chervinsky, Ilana, Orenstein, Naama, Engel, Andrew G, Nevo, Yoram

“…Highlights • Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders. To date, 20 CMS-causing genes have been…”
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De novo and biallelic DEAF1 variants cause a phenotypic spectrum by Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

“…To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1…”
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Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas by 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

“…Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients…”
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Biallelic loss of EMC10 leads to mild to severe intellectual disability by Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza

“…The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post‐translational insertion of…”
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High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1 by Rossenwasser-Weiss, Shirel, Orenstein, Naama, Zahavi, Alon, Goldenberg-Cohen, Nitza

“…Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family. Methods: Five generations of a single family…”
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High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease by 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

“…Biological similarities between inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) have been described in humans and animal models…”
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Long COVID‐19 Liver Manifestation in Children by Cooper, Shiri, Tobar, Ana, Konen, Osnat, Orenstein, Naama, Kropach Gilad, Nesia, Landau, Yuval E., Mozer‐Glassberg, Yael, Bar‐Lev, Michal Rozenfeld, Shaoul, Ron, Shamir, Raanan, Waisbourd‐Zinman, Orith

“…Objectives: Severe acute respiratory syndrome coronavirus 2, the novel coronavirus responsible for coronavirus disease (COVID‐19), has been a major cause of…”
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A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant by Sachs, Nimrod, Wechsberg, Oded, Landau, Yuval E., Krause, Irit, Elgali, Ifat Israel, Darawshe, Malak, Shomron, Noam, Lidzbarsky, Gabriel, Orenstein, Naama

“…•The variant c.848 + 6 T > C in the SLC25A13 gene is a novel splice site variant.•We proved the variant resulted in an aberrant RNA product.•It manifested…”
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DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis by Starokadomskyy, Petro, Gemelli, Terry, Rios, Jonathan J, Xing, Chao, Wang, Richard C, Li, Haiying, Pokatayev, Vladislav, Dozmorov, Igor, Khan, Shaheen, Miyata, Naoteru, Fraile, Guadalupe, Raj, Prithvi, Xu, Zhe, Xu, Zigang, Ma, Lin, Lin, Zhimiao, Wang, Huijun, Yang, Yong, Ben-Amitai, Dan, Orenstein, Naama, Mussaffi, Huda, Baselga, Eulalia, Tadini, Gianluca, Grunebaum, Eyal, Sarajlija, Adrijan, Krzewski, Konrad, Wakeland, Edward K, Yan, Nan, de la Morena, Maria Teresa, Zinn, Andrew R, Burstein, Ezra

“…The causative mechanism for the immunodeficiency and autoinflammatory disease XLPDR is unknown. Burstein and colleagues show that XLPDR is caused by disruption…”
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Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel by 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

“…•p.(Val1262Phe) is a unique pathogenic variant in ATP7B in Bukharan Jewish descent.•In our cohort, patients had a severe phenotype of WD with early onset.•A…”
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Impact of a national population-based carrier-screening program on spinal muscular atrophy births by Aharoni, Sharon, Nevo, Yoram, Orenstein, Naama, Basel-Salmon, Lina, Ben-Shachar, Shay, Mussaffi, Huda, Sagi-Dain, Lena, Cohen, Rony, Singer, Amihood

“…•SMA population carrier screening is a strategy to reduce the disease impact.•Since 2013, SMA population carrier screening is funded by the Israeli…”
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Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin‐Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti–Interleukin‐1 Therapy by Birk‐Bachar, Merav, Cohen, Hadar, Sofrin‐Drucker, Efrat, Kropach‐Gilad, Nesia, Orenstein, Naama, Lidzbarsky, Gabriel, Kornreich, Liora, Tal, Rotem, Amarilyo, Gil, Levinsky, Yoel, Sokolov, Meirav, Raveh, Eyal, Gerlic, Motti, Harel, Liora

“…Objective Cryopyrin‐associated periodic syndromes (CAPS), also known as NLRP3‐associated autoinflammatory diseases, are a spectrum of rare autoinflammatory…”
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Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism by Ehrenberg, Miriam, Bagdonite-Bejarano, Laura, Fulton, Anne B, Orenstein, Naama, Yahalom, Claudia

“…: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation…”
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The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations by Ehrenberg, Miriam, Weiss, Shirel, Orenstein, Naama, Goldenberg-Cohen, Nitza, Ben-Yosef, Tamar

“…To describe the coexistence of additional non-ocular genetic diseases in patients diagnosed with inherited retinal degenerations (IRDs). The study was based on…”
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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 by Brabbing-Goldstein, Dana, Bazak, Lily, Ruhrman-Shahar, Noa, Lidzbarsky, Gabriel Arie, Orenstein, Naama, Lifshiz-Kalis, Marina, Asia-Batzir, Nurit, Goldberg, Yael, Basel-Salmon, Lina

“…To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants…”
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