Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
JIANJUN CHEN, ZHIWEI MA, AMER RIAZUDDIN, S, FIELDING HEJTMANCIK, J, XIAODONG JIAO, FARISS, Robert, LEE KANTOROW, Wanda, KANTOROW, Marc, PRAS, Eran, FRYDMAN, Moshe, PRAS, Elon, RIAZUDDIN, Sheikh
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
Brownstein, Zippora, Abu-Rayyan, Amal, Karfunkel-Doron, Daphne, Sirigu, Serena, Davidov, Bella, Shohat, Mordechai, Frydman, Moshe, Houdusse, Anne, Kanaan, Moien, Avraham, Karen B
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
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Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
Published in American journal of human genetics (01.05.2008)
Published in American journal of human genetics (01.05.2008)
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Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51
Walsh, Tom, Pierce, Sarah B., Lenz, Danielle R., Brownstein, Zippora, Dagan-Rosenfeld, Orit, Shahin, Hashem, Roeb, Wendy, McCarthy, Shane, Nord, Alex S., Gordon, Carlos R., Ben-Neriah, Ziva, Sebat, Jonathan, Kanaan, Moien, Lee, Ming K., Frydman, Moshe, King, Mary-Claire, Avraham, Karen B.
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Late onset fulminant Wilson’s disease:A case report and review of the literature
Weitzman, Ella, Pappo, Orit, Weiss, Peretz, Frydman, Moshe, Haviv-Yadid, Yael, Ben Ari, Ziv
Published in World journal of gastroenterology : WJG (14.12.2014)
Published in World journal of gastroenterology : WJG (14.12.2014)
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Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice
Parzefall, Thomas, Shivatzki, Shaked, Lenz, Danielle R., Rathkolb, Birgit, Ushakov, Kathy, Karfunkel, Daphne, Shapira, Yisgav, Wolf, Michael, Mohr, Manuela, Wolf, Eckhard, Sabrautzki, Sibylle, de Angelis, Martin Hrabé, Frydman, Moshe, Brownstein, Zippora, Avraham, Karen B.
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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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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Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?
Nissenkorn, Andreea, MD, Banet Levi, Yonit, RN, Vilozni, Daphna, PhD, Berkun, Yakov, MD, Efrati, Ori, MD, Frydman, Moshe, MD, Yahav, Jacob, MD, Waldman, Dalia, MD, Somech, Raz, MD, Shenhod, Efrat, BOT, Menascu, Shay, MD, Ben-Zeev, Bruria, MD
Published in The Journal of pediatrics (01.09.2011)
Published in The Journal of pediatrics (01.09.2011)
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24
Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Stolovitch, Chaim, Aviram-Goldring, Ayala, Rienstein, Shlomit, Reznik-Wolf, Haike, Pras, Elon
Published in Investigative ophthalmology & visual science (01.12.2006)
Published in Investigative ophthalmology & visual science (01.12.2006)
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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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Screening for fragile X syndrome in women of reproductive age
Pesso, Rachel, Berkenstadt, Michal, Cuckle, Howard, Gak, Eva, Peleg, Lea, Frydman, Moshe, Barkai, Gad
Published in Prenatal diagnosis (01.08.2000)
Published in Prenatal diagnosis (01.08.2000)
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The LINC complex is essential for hearing
Horn, Henning F, Brownstein, Zippora, Lenz, Danielle R, Shivatzki, Shaked, Dror, Amiel A, Dagan-Rosenfeld, Orit, Friedman, Lilach M, Roux, Kyle J, Kozlov, Serguei, Jeang, Kuan-Teh, Frydman, Moshe, Burke, Brian, Stewart, Colin L, Avraham, Karen B
Published in The Journal of clinical investigation (01.02.2013)
Published in The Journal of clinical investigation (01.02.2013)
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Brownstein, Zippora, Friedman, Lilach M, Shahin, Hashem, Oron-Karni, Varda, Kol, Nitzan, Abu Rayyan, Amal, Parzefall, Thomas, Lev, Dorit, Shalev, Stavit, Frydman, Moshe, Davidov, Bella, Shohat, Mordechai, Rahile, Michele, Lieberman, Sari, Levy-Lahad, Ephrat, Lee, Ming K, Shomron, Noam, King, Mary-Claire, Walsh, Tom, Kanaan, Moien, Avraham, Karen B
Published in Genome biology (14.09.2011)
Published in Genome biology (14.09.2011)
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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