Search Results - "Ruhrman‐Shahar, Noa"

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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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition by Orenstein, Naama, Gofin, Yoel, Shomron, Noam, Ruhrman‐Shahar, Noa, Magal, Nurit, Hagari, Ofir, Azulay, Noy, Bazak, Lily, Goldberg, Yael, Basel‐Salmon, Lina

“…A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome…”
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Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease by Hamiel, Uri, Kurolap, Alina, Cohen, Ian J., Ruhrman‐Shahar, Noa, Hershkovitz, Tova, Niederau, Claus, Zimran, Ari, Revel‐Vilk, Shoshana, Istaiti, Majdolen, Cappellini, Maria Domenica, Baris Feldman, Hagit

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The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study by Sukenik‐Halevy, Rivka, Perlman, Sharon, Ruhrman‐Shahar, Noa, Engel, Offra, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily, Basel‐Salmon, Lina

“…Objective Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal…”
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A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome by Ruhrman‐Shahar, Noa, Assia Batzir, Nurit, Lidzbarsky, Gabriel Arie, Bazak, Lily, Magal, Nurit, Basel‐Salmon, Lina

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Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia by Salzer‐Sheelo, Liat, Fellner, Avi, Orenstein, Naama, Bazak, Lily, Lev‐El Halabi, Noa, Daue, Melanie, Smirin‐Yosef, Pola, Van Hout, Cristopher V., Fellig, Yakov, Ruhrman‐Shahar, Noa, Staples, Jeffrey, Magal, Nurit, Shuldiner, Alan R., Mitchell, Braxton D., Nevo, Yoram, Pollin, Toni I., Gonzaga‐Jauregui, Claudia, Basel‐Salmon, Lina

“…Background and purpose Muscular A‐type lamin‐interacting protein (MLIP) is most abundantly expressed in cardiac and skeletal muscle. In vitro and animal…”
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The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting by Sukenik‐Halevy, Rivka, Ruhrman‐Shahar, Noa, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel A., Bazak, Lily, Basel‐Salmon, Lina

“…ABSTRACT Objective Laboratories performing prenatal exome sequencing (ES) frequently limit analysis to predetermined gene lists. We used a diagnostic postnatal…”
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Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations by Hershkovitz, Tova, Kurolap, Alina, Ruhrman‐Shahar, Noa, Monakier, Daniel, DeChene, Elizabeth T., Peretz‐Amit, Gabriela, Funke, Birgit, Zucker, Nili, Hirsch, Rafael, Tan, Wen‐Hann, Baris Feldman, Hagit

“…MYH7‐related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of…”
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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 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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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 by Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio T.A., Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik‐Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial‐Farran, Nada, Abu‐Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnthórsson, Asgeir Ö., Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samra, Nadra, Zvi, Na'ama, Baris‐Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali‐Naffaa, Doaa, Ruhrman‐Shahar, Noa, Madgar, Ory, Sofrin‐Drucker, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel‐Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien N., Allon‐Shalev, Stavit, King, Mary‐Claire, Avraham, Karen B.

“…Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations…”
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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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Refining the Phenotypic Spectrum of KMT5B -Associated Developmental Delay by 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

“…The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious…”
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Challenging the Use of Hematopoietic Stem Cell Transplantation in Gaucher Disease by Ruhrman-Shahar, Noa, Cohen, Ian J.

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Challenging the Use of Hematopoietic Stem Cell Transplantation in Gaucher Disease by Ruhrman-Shahar, Noa, Cohen, Ian J.

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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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The Ongoing Debate regarding Long-Term Safety of Silicone Breast Augmentation Rages by Levy, Yair, Ruhrman-Shahar, Noa

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Real-world experiences with taliglucerase alfa home infusions for patients with Gaucher disease: A global cohort study by Zimran, Ari, Mansfield, Roy, Feder-Krengel, Neta, Machtiger-Azoulay, Noya, Szer, Jeff, Rosenbaum, Hanna, Shahar, Noa Ruhrman, Wajnrajch, Michael, Revel-Vilk, Shoshana

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 by Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

“…We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1…”
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