Resultados de búsqueda - Harel, Tamar

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs por Yanovsky-Dagan, Shira, Frumkin, Ayala, Lupski, James R., Harel, Tamar

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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child por Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

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22q11.2q13 Duplication Including SOX10 causes Sex-reversal and Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Dis... por Falah, Nadia, Posey, Jennifer E., Thorson, Willa, Benke, Paul, Tekin, Mustafa, Tarshish, Brocha, Lupski, James R, Harel, Tamar

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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay por Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly

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Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome por Duvdevani, Morasha Plesser, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar

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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy por Yuan, Bo, Neira, Juanita, Gu, Shen, Harel, Tamar, Liu, Pengfei, Briceño, Ignacio, Elsea, Sarah H., Gómez, Alberto, Potocki, Lorraine, Lupski, James R.

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MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease por Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar

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Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies por Harel, Tamar, Griffin, John N, Arbogast, Thomas, Monroe, Tanner O, Palombo, Flavia, Martinelli, Marcella, Seri, Marco, Pippucci, Tommaso, Elpeleg, Orly, Katsanis, Nicholas

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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: clinical gene panels versus genome-wide approaches to molecular diagnosis por Punetha, Jaya, Mackay-Loder, Loren, Harel, Tamar, Coban-Akdemir, Zeynep, Jhangiani, Shalini N, Gibbs, Richard A, Lee, Ian, Terespolsky, Deborah, Lupski, James R, Posey, Jennifer E

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy por Sheffer, Ruth, Gur, Michal, Brooks, Rebecca, Salah, Somaya, Daana, Muhannad, Fraenkel, Nitay, Eisenstein, Eli, Rabie, Malcolm, Nevo, Yoram, Jalas, Chaim, Elpeleg, Orly, Edvardson, Shimon, Harel, Tamar

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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder por Abu-Libdeh, Bassam, Mor-Shaked, Hagar, Atawna, Amir A., Gillis, David, Halstuk, Orli, Shaul-Lotan, Nava, Slae, Mordechai, Sultan, Mutaz, Meiner, Vardiella, Elpeleg, Orly, Harel, Tamar

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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis por Pehlivan, Davut, Akdemir, Zeynep Coban, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Harel, Tamar

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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size por Kadir, Rotem, Harel, Tamar, Markus, Barak, Perez, Yonatan, Bakhrat, Anna, Cohen, Idan, Volodarsky, Michael, Feintsein-Linial, Miora, Chervinski, Elana, Zlotogora, Joel, Sivan, Sara, Birnbaum, Ramon Y., Abdu, Uri, Shalev, Stavit, Birk, Ohad S.

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Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing por Mor-Shaked, Hagar, Paz-Ebstein, Emuna, Basal, Adily, Ben-Haim, Simona, Grobe, Hanna, Heymann, Sami, Israel, Zvi, Namnah, Montaser, Nitzan, Anat, Rosenbluh, Chaggai, Saada, Ann, Tzur, Tomer, Yanovsky-Dagan, Shira, Zaidel-Bar, Ronen, Harel, Tamar, Arkadir, David

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Phenotypic Expansion Illuminates Multilocus Pathogenic Variation por Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

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Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy por Fichtman, Boris, Harel, Tamar, Biran, Nitzan, Zagairy, Fadia, Applegate, Carolyn D., Salzberg, Yuval, Gilboa, Tal, Salah, Somaya, Shaag, Avraham, Simanovsky, Natalia, Ayoubieh, Houriya, Sobreira, Nara, Punzi, Giuseppe, Pierri, Ciro Leonardo, Hamosh, Ada, Elpeleg, Orly, Harel, Amnon, Edvardson, Simon

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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy por Pehlivan, Davut, Beck, Christine R., Okamoto, Yuji, Harel, Tamar, Akdemir, Zeynep H.C., Jhangiani, Shalini N., Withers, Marjorie A., Goksungur, Meryem Tuba, Carvalho, Claudia M.B., Czesnik, Dirk, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna M., Gibbs, Richard A., Rautenstrauss, Bernd, Sereda, Michael W., Lupski, James R.

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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes por Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation por Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Muzny, Donna M., Gibbs, Richard A., Boerwinkle, Eric, Eng, Christine M., Sutton, V. Reid, Shaw, Chad A., Plon, Sharon E., Yang, Yaping, Lupski, James R.

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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics por Loviglio, Maria Nicla, Beck, Christine R., White, Janson J., Leleu, Marion, Harel, Tamar, Guex, Nicolas, Niknejad, Anne, Bi, Weimin, Chen, Edward S., Crespo, Isaac, Yan, Jiong, Charng, Wu-Lin, Gu, Shen, Fang, Ping, Coban-Akdemir, Zeynep, Shaw, Chad A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Rougemont, Jacques, Xenarios, Ioannis, Lupski, James R., Reymond, Alexandre

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