Search Results - "Basel‐Salmon, Lina"

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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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders by Liscovitch-Brauer, Noa, Mesika, Ravit, Rabinowitz, Tom, Volkov, Hadas, Grad, Meitar, Matar, Reut Tomashov, Basel-Salmon, Lina, Tadmor, Oren, Beker, Amir, Shomron, Noam

“…Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs)…”
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Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds by Maya, Idit, Levy, Michal, Matar, Reut, Kahana, Sarit, Agmon‐Fishman, Ifaat, Klein, Cochava, Gurevitch, Merav, Basel‐Salmon, Lina, Sagi‐Dain, Lena

“…Long contiguous stretches of homozygosity or regions of homozygosity (ROH) are frequently detected via microarray and sequencing technologies. However,…”
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Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition by Michaeli, Orli, Ladany, Hagay, Erez, Ayelet, Ben Shachar, Shay, Izraeli, Shai, Lidzbarsky, Gabriel, Basel‐Salmon, Lina, Biskup, Saskia, Maruvka, Yosef E., Toledano, Helen, Goldberg, Yael

“…Polymerase proofreading‐associated polyposis (PPAP) and Lynch syndrome, caused by mutated POLE and mismatch repair (MMR) genes, respectively, are associated…”
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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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Proximal 1q21 duplication: A syndrome or a susceptibility locus? by Levy, Michal, Shohat, Mordechai, Kahana, Sarit, Matar, Reut, Klein, Kochav, Fishman, Ifat Agmon, Gurevitch, Merav, Basel-Salmon, Lina, Maya, Idit

“…Proximal 1q21 microduplication is an incomplete penetrance and variable expressivity syndrome. This study reports 28 new cases and summarizes data on…”
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Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population by Davidov, Bella, Levon, Amit, Volkov, Hadas, Orenstein, Naama, Karo, Racheli, Fatal Gazit, Inbal, Magal, Nurit, Basel‐Salmon, Lina, Golan Mashiach, Michal

“…Preconception carrier screening allows identification of couples at risk to have offspring with autosomal recessive and X‐linked disorders. In a current…”
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In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease by Fellner, Avi, Goldberg, Yael, Lev, Dorit, Basel-Salmon, Lina, Shor, Oded, Benninger, Felix

“…TUBB4A -associated disorder is a rare condition affecting the central nervous system. It displays a wide phenotypic spectrum, ranging from isolated late-onset…”
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Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance by Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri P., Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Hochner, Hagit, Shkedi‐Rafid, Shiri

“…Background Chromosomal‐microarray‐analysis (CMA) may reveal susceptibility‐loci (SL) of varied penetrance for autism‐spectrum‐disorder (ASD) and other…”
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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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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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Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia by Abu Shtaya, Aasem, Sukenik‐Halevy, Rivka, Bazak, Lily, Lidzbarsky, Gabriel Arie, Gonzaga‐Jauregui, Claudia, Lagovsky, Irina, Goldberg, Yael, Basel‐Salmon, Lina

“…A short report of two male siblings born with cutis aplasia, lymphedema and intestinal lymphangiectasia, one found to carry bi‐allelic variants in the TIE1…”
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Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study by Michaelson-Cohen, Rachel, Salzer, Liat Sheelo, Brabbing-Goldstein, Dana, Yaron, Yuval, Reches, Adi, Yonath, Hagith, Regev, Miriam, Shani, Hagit, Altarescu, Gheona, Segel, Reeval, Sukenik-Halevy, Rivka, Daum, Hagit, Harel, Tamar, Meiner, Vardiella, Basel-Salmon, Lina, Sagi-Dain, Lena, Maya, Idit

“…Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting…”
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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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Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy by Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Goldman‐Mellor, Sidra, Israel, Salomon, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri Pinchas, Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Shkedi‐Rafid, Shiri, Hochner, Hagit

“…Background Advanced prenatal genomic technologies can identify risks for adult‐onset (AO) conditions in the fetus, challenging the traditional purpose of…”
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Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting by Maya, Idit, Sukenik-Halevy, Rivka, Basel-Salmon, Lina, Sagi-Dain, Lena

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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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Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature by Stern, Tomer, Orenstein, Naama, Fellner, Avi, Lev‐El Halabi, Noa, Shuldiner, Alan R., Gonzaga‐Jauregui, Claudia, Lidzbarsky, Gabriel, Basel‐Salmon, Lina, Goldberg‐Stern, Hadassa

“…A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal development, with normal speech and…”
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Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia by Fellner, Avi, Lossos, Alexander, Kogan, Elena, Argov, Zohar, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Darawshe, Malak, Bazak, Lily, Lidzbarsky, Gabriel, Shomron, Noam, Basel‐Salmon, Lina, Goldberg, Yael

“…POLR3A encodes the largest subunit of the DNA‐dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA…”
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