Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation von 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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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease von 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.

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Phenotypic expansion illuminates multilocus pathogenic variation von 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.

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Rare disease informs mechanism and possible treatment of statin-associated myopathy von Harel, Tamar

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Insights into genetics, human biology and disease gleaned from family based genomic studies von 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.

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Modulation of cardiac macrophages by phosphatidylserine-presenting liposomes improves infarct repair von Harel-Adar, Tamar, Mordechai, Tamar Ben, Amsalem, Yoram, Feinberg, Micha S, Leor, Jonathan, Cohen, Smadar

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New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review von Harel, Tamar, Gorman, Emily F, Wallin, Mitchell T

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

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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size von 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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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy von 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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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease von 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.

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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder von 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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A deleterious variant of INTS1 leads to disrupted sleep-wake cycles von Confino, Shir, Wexler, Yair, Medvetzky, Adar, Elazary, Yotam, Ben-Moshe, Zohar, Reiter, Joel, Dor, Talya, Edvardson, Simon, Prag, Gali, Harel, Tamar, Gothilf, Yoav

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

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin von 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

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially von 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

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Ulcers and Scars on the Trunk of a 20-month-old Boy: A Quiz von Goldberger, Tal, Maly, Alexander, Harel, Tamar, Molho-Pessach, Vered

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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes von 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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Grandparental genotyping enhances exome variant interpretation von Daum, Hagit, Mor‐Shaked, Hagar, Ta‐Shma, Asaf, Shaag, Avraham, Silverstein, Shira, Shohat, Mordechai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

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

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