Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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
Published in The New England journal of medicine (05.01.2017)
Published in The New England journal of medicine (05.01.2017)
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Journal Article
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.
Published in Nature communications (15.09.2020)
Published in Nature communications (15.09.2020)
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Journal Article
Phenotypic expansion illuminates multilocus pathogenic variation
Karaca, Ender, Posey, Jennifer E., Coban Akdemir, Zeynep, 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.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
Insights into genetics, human biology and disease gleaned from family based genomic studies
Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Journal Article
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
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
Published in PLoS genetics (23.03.2016)
Published in PLoS genetics (23.03.2016)
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Journal Article
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
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
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Journal Article
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
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
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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Journal Article
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Journal Article
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles
Confino, Shir, Wexler, Yair, Medvetzky, Adar, Elazary, Yotam, Ben-Moshe, Zohar, Reiter, Joel, Dor, Talya, Edvardson, Simon, Prag, Gali, Harel, Tamar, Gothilf, Yoav
Published in Disease models & mechanisms (01.08.2024)
Published in Disease models & mechanisms (01.08.2024)
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Journal Article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M, Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W, Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A, Boerwinkle, Eric, Gibbs, Richard A, Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R
Published in The Journal of clinical investigation (01.02.2016)
Published in The Journal of clinical investigation (01.02.2016)
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Journal Article
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.
Published in Nature communications (01.10.2020)
Published in Nature communications (01.10.2020)
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Journal Article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo, Xi, Rosenfeld, Jill A, Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J, Pastore, Matthew T, Bartholomew, Dennis, Delgado, Mauricio R, Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A, Eldomery, Mohammad K, Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R, Lotze, Timothy, Lupski, James R, Lee, Brendan, Bellen, Hugo J, Wangler, Michael F
Published in PLoS genetics (24.07.2017)
Published in PLoS genetics (24.07.2017)
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Journal Article
Modulation of cardiac macrophages by phosphatidylserine-presenting liposomes improves infarct repair
Harel-Adar, Tamar, Mordechai, Tamar Ben, Amsalem, Yoram, Feinberg, Micha S, Leor, Jonathan, Cohen, Smadar
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.2011)
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Journal Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
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
Published in Genome medicine (12.04.2021)
Published in Genome medicine (12.04.2021)
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Journal Article
Ulcers and Scars on the Trunk of a 20-month-old Boy: A Quiz
Goldberger, Tal, Maly, Alexander, Harel, Tamar, Molho-Pessach, Vered
Published in Acta dermato-venereologica (01.05.2019)
Published in Acta dermato-venereologica (01.05.2019)
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Journal Article
Grandparental genotyping enhances exome variant interpretation
Daum, Hagit, Mor‐Shaked, Hagar, Ta‐Shma, Asaf, Shaag, Avraham, Silverstein, Shira, Shohat, Mordechai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs
Yanovsky-Dagan, Shira, Frumkin, Ayala, Lupski, James R., Harel, Tamar
Published in HGG advances (14.04.2022)
Published in HGG advances (14.04.2022)
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Journal Article
22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
Falah, Nadia, Posey, Jennifer E., Thorson, Willa, Benke, Paul, Tekin, Mustafa, Tarshish, Brocha, Lupski, James R., Harel, Tamar
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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Journal Article