Genomic analysis of inherited hearing loss in the Palestinian population
Rayyan, Amal Abu, Kamal, Lara, Casadei, Silvia, Brownstein, Zippora, Zahdeh, Fouad, Shahin, Hashem, Canavati, Christina, Dweik, Dima, Jaraysa, Tamara, Rabie, Grace, Carlson, Ryan J., Gulsuner, Suleyman, Lee, Ming K., Avraham, Karen B., Walsh, Tom, King, Mary-Claire, Kanaan, Moien N.
Published in Proceedings of the National Academy of Sciences - PNAS (18.08.2020)
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Published in Journal of medical genetics (01.06.2015)
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Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
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Published in American journal of human genetics (09.07.2010)
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A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss
Aburayyan, Amal, Carlson, Ryan J, Rabie, Grace N, Lee, Ming K, Gulsuner, Suleyman, Walsh, Tom, Avraham, Karen B, Kanaan, Moien N, King, Mary-Claire
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A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
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Published in The Journal of clinical investigation (01.11.2015)
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Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice
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The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
Klein, Karl Martin, Pendziwiat, Manuela, Eilam, Anda, Gilad, Ronit, Blatt, Ilan, Rosenow, Felix, Kanaan, Moien, Helbig, Ingo, Afawi, Zaid
Published in Journal of neurology (01.07.2017)
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Using multi-scale genomics to associate poorly annotated genes with rare diseases
Canavati, Christina, Sherill-Rofe, Dana, Kamal, Lara, Bloch, Idit, Zahdeh, Fouad, Sharon, Elad, Terespolsky, Batel, Allan, Islam Abu, Rabie, Grace, Kawas, Mariana, Kassem, Hanin, Avraham, Karen B, Renbaum, Paul, Levy-Lahad, Ephrat, Kanaan, Moien, Tabach, Yuval
Published in Genome medicine (04.01.2024)
Published in Genome medicine (04.01.2024)
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
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.
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
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Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Aran, Adi, Rosenfeld, Nuphar, Jaron, Ranit, Renbaum, Paul, Zuckerman, Shachar, Fridman, Hila, Zeligson, Sharon, Segel, Reeval, Kohn, Yoav, Kamal, Lara, Kanaan, Moien, Segev, Yoram, Mazaki, Eyal, Rabinowitz, Ron, Shen, Ori, Lee, Ming, Walsh, Tom, King, Mary Claire, Gulsuner, Suleyman, Levy-Lahad, Ephrat
Published in Neurology (24.05.2016)
Published in Neurology (24.05.2016)
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Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
YARIZ, Kemal O, DUMAN, Duygu, OOSTRIK, Jaap, DIAZ-HORTA, Oscar, YOUNG, Juan I, TOKGOZ-YILMAZ, Suna, KONUKSEVEN, Ozlem, SHAHIN, Hashem, HETTERSCHIJT, Lisette, KANAAN, Moien, OONK, Anne M. M, EDWARDS, Yvonne J. K, CELIA ZAZO SECO, HUAWEI LI, ATALAY, Semra, BLANTON, Susan, DESMIDT, Alexandra A, LIU, Xue-Zhong, PENNINGS, Ronald J. E, ZHONGMIN LU, CHEN, Zheng-Yi, KREMER, Hannie, TEKIN, Mustafa, DALLMAN, Julia, MINGQIAN HUANG, PETERS, TheoA, SIRMACI, Asli, NA LU, SCHRADERS, Margit, SKROMNE, Isaac
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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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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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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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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Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis
Elson, Ari, Stein, Merle, Rabie, Grace, Barnea-Zohar, Maayan, Winograd-Katz, Sabina, Reuven, Nina, Shalev, Moran, Sekeres, Juraj, Kanaan, Moien, Tuckermann, Jan, Geiger, Benjamin
Published in Frontiers in cell and developmental biology (20.05.2021)
Published in Frontiers in cell and developmental biology (20.05.2021)
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mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA
Walsh, Vanessa L, Raviv, Dorith, Dror, Amiel A, Shahin, Hashem, Walsh, Tom, Kanaan, Moien N, Avraham, Karen B, King, Mary-Claire
Published in Mammalian genome (01.04.2011)
Published in Mammalian genome (01.04.2011)
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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
Kamal, Lara, Pierce, Sarah B, Canavati, Christina, Rayyan, Amal Abu, Jaraysa, Tamara, Lobel, Orit, Lolas, Suhair, Norquist, Barbara M, Rabie, Grace, Zahdeh, Fouad, Levy-Lahad, Ephrat, King, Mary-Claire, Kanaan, Moien N
Published in Cold Spring Harbor molecular case studies (01.10.2020)
Published in Cold Spring Harbor molecular case studies (01.10.2020)
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From Flies' Eyes to Our Ears: Mutations in a Human Class III Myosin Cause Progressive Nonsyndromic Hearing Loss DFNB30
Walsh, Tom, Walsh, Vanessa, Vreugde, Sarah, Hertzano, Ronna, Shahin, Hashem, Haika, Smadar, Lee, Ming K., Kanaan, Moien, King, Mary-Claire, Avraham, Karen B.
Published in Proceedings of the National Academy of Sciences - PNAS (28.05.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (28.05.2002)
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Collaborative genomics for human health and cooperation in the Mediterranean region
Özçelik, Tayfun, Levy-Lahad, Ephrat, Kanaan, Moien, Avraham, Karen B, Yannoukakos, Drakoulis, Mégarbané, André, Tadmouri, Ghazi O, Middleton, Lefkos, Romeo, Giovanni, King, Mary-Claire
Published in Nature genetics (01.08.2010)
Published in Nature genetics (01.08.2010)
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