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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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities von Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

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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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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

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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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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions von Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Coban Akdemir, Zeynep H., Wilson, Theresa A., Jhangiani, Shalini N., Chen, Ed, Eng, Christine M., Muzny, Donna, Posey, Jennifer E., Yang, Yaping, Zhang, David Y., Shaw, Chad, Liu, Pengfei, Lupski, James R., Stankiewicz, Paweł

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Variant‐level matching for diagnosis and discovery: Challenges and opportunities von Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara

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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs von Szafranski, Przemyslaw, Coban-Akdemir, Zeynep H., Rupps, Rosemarie, Grazioli, Serge, Wensley, David, Jhangiani, Shalini N., Popek, Edwina, Lee, Anna F., Lupski, James R., Boerkoel, Cornelius F., Stankiewicz, Paweł

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AD-Syn-Net: systematic identification of Alzheimer’s disease-associated mutation and co-mutation vulnerabilities via deep learning von Pan, Xingxin, Coban Akdemir, Zeynep H, Gao, Ruixuan, Jiang, Xiaoqian, Sheynkman, Gloria M, Wu, Erxi, Huang, Jason H, Sahni, Nidhi, Yi, S Stephen

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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID von Kuhny, Marcel, Forbes, Lisa R., Cakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salome, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric

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Biallelic variants in KIF14 cause intellectual disability with microcephaly von Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S, Mahmoud, Iman G, Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N, Coban Akdemir, Zeynep H, Gambin, Tomasz, Sorte, Hanne S, Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N, Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A, Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G, Lupski, James R, Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E

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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity von Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Edwina, Stankiewicz, Paweł

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Biallelic mutations in IRF8 impair human NK cell maturation and function von Mace, Emily M, Bigley, Venetia, Gunesch, Justin T, Chinn, Ivan K, Angelo, Laura S, Care, Matthew A, Maisuria, Sheetal, Keller, Michael D, Togi, Sumihito, Watkin, Levi B, LaRosa, David F, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Coban Akdemir, Zeynep, Smith, Jansen B, Hernández-Sanabria, Mayra, Le, Duy T, Hogg, Graham D, Cao, Tram N, Freud, Aharon G, Szymanski, Eva P, Savic, Sinisa, Collin, Matthew, Cant, Andrew J, Gibbs, Richard A, Holland, Steven M, Caligiuri, Michael A, Ozato, Keiko, Paust, Silke, Doody, Gina M, Lupski, James R, Orange, Jordan S

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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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AI-DrugNet: A network-based deep learning model for drug repurposing and combination therapy in neurological disorders von Pan, Xingxin, Yun, Jun, Coban Akdemir, Zeynep H., Jiang, Xiaoqian, Wu, Erxi, Huang, Jason H., Sahni, Nidhi, Yi, S. Stephen

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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders von Bozkurt-Yozgatli, Tugce, Pehlivan, Davut, Gibbs, Richard A, Sezerman, Ugur, Posey, Jennifer E, Lupski, James R, Coban-Akdemir, Zeynep

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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant von Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Du, Haowei, Rafat, Karima, Fatih, Jawid M., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep, Gibbs, Richard A., Pehlivan, Davut, Hunter, Jill V., Posey, Jennifer E., Zaki, Maha S., Lupski, James R.

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy von Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation von Coban‐Akdemir, Zeynep H., Charng, Wu‐Lin, Azamian, Mahshid, Paine, Ingrid S., Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago O., Cannon, Bryan, Zapata, Gladys, Hernandez, Patricia P., Jhangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Boricha, Fatima, Muzny, Donna M., Boerwinkle, Eric, Yang, Yaping, Gibbs, Richard A., Posey, Jennifer E., Wehrens, Xander H. T., Belmont, John W., Kim, Jeffrey J., Miyake, Christina Y., Lupski, James R., Lalani, Seema 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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