Rare disease informs mechanism and possible treatment of statin-associated myopathy

por Harel, Tamar
Publicado 2023

New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review

por Harel, Tamar, Gorman, Emily F., Wallin, Mitchell T.
Publicado 2023

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

por Yanovsky-Dagan, Shira, Frumkin, Ayala, Lupski, James R., Harel, Tamar
Publicado 2022

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

por Mo, Alisa, Paz‐Ebstein, Emuna, Yanovsky‐Dagan, Shira, Lai, Abbe, Mor‐Shaked, Hagar, Gilboa, Tal, Yang, Edward, Shao, Diane D., Walsh, Christopher A., Harel, Tamar
Publicado 2023

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

por O’Neill, Audrey G, Burrell, Anika L, Zech, Michael, Elpeleg, Orly, Harel, Tamar, Edvardson, Simon, Shaked, Hagar Mor, Rippert, Alyssa L, Nomakuchi, Tomoki, Izumi, Kosuke, Kollman, Justin M
Publicado 2023

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

por O’Neill, Audrey G., Burrell, Anika L., Zech, Michael, Elpeleg, Orly, Harel, Tamar, Edvardson, Simon, Mor-Shaked, Hagar, Rippert, Alyssa L., Nomakuchi, Tomoki, Izumi, Kosuke, Kollman, Justin M.
Publicado 2023

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

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.
Publicado 2016

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
Publicado 2021

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.
Publicado 2018

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
Publicado 2021

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

por Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Mor, Evyatar, Tzvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Jeong, Won Chan, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Elpeleg, Orly, Gordon, Chris, Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar
Publicado 2023

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
Publicado 2016

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

por 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.
Publicado 2017

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

por Abu-Libdeh, Bassam, Jhujh, Satpal S., Dhar, Srijita, Sommers, Joshua A., Datta, Arindam, Longo, Gabriel M.C., Grange, Laura J., Reynolds, John J., Cooke, Sophie L., McNee, Gavin S., Hollingworth, Robert, Woodward, Beth L., Ganesh, Anil N., Smerdon, Stephen J., Nicolae, Claudia M., Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M., Stewart, Grant S.
Publicado 2022

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

por 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.
Publicado 2020

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

por Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Publicado 2020

POGZ truncating alleles cause syndromic intellectual disability

por White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kati J., Wierenga, Klaas J., Arrington, Daniel K., Hall, Melissa, Psychogios, Apostolos, Fairbrother, Laura, Walkiewicz, Magdalena, Person, Richard E., Niu, Zhiyv, Zhang, Jing, Rosenfeld, Jill A., Muzny, Donna M., Eng, Christine, Beaudet, Arthur L., Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A., Yang, Yaping, Xia, Fan, Sutton, V. Reid
Publicado 2016

Lessons learned from additional research analyses of unsolved clinical exome cases

por Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
Publicado 2017