Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy von Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R

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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements von Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Syk Lundberg, Elisabeth, Carvalho, Claudia M B, Lindstrand, Anna

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The genetic architecture of phosphorus efficiency in sorghum involves pleiotropic QTL for root morphology and grain yield under low phosphorus availability in the soil von Bernardino, Karine C, Pastina, Maria Marta, Menezes, Cícero B, de Sousa, Sylvia M, Maciel, Laiane S, Carvalho, Jr, Geraldo, Guimarães, Claudia T, Barros, Beatriz A, da Costa E Silva, Luciano, Carneiro, Pedro C S, Schaffert, Robert E, Kochian, Leon V, Magalhaes, Jurandir V

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Complex genomic rearrangements: an underestimated cause of rare diseases von Schuy, Jakob, Grochowski, Christopher M, Carvalho, Claudia M B, Lindstrand, Anna

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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 von Gu, Shen, Yuan, Bo, Campbell, Ian M, Beck, Christine R, Carvalho, Claudia M B, Nagamani, Sandesh C S, Erez, Ayelet, Patel, Ankita, Bacino, Carlos A, Shaw, Chad A, Stankiewicz, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R

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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry von Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut

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Molecular mechanism of dynein recruitment to kinetochores by the Rod-Zw10-Zwilch complex and Spindly von Gama, José B, Pereira, Cláudia, Simões, Patrícia A, Celestino, Ricardo, Reis, Rita M, Barbosa, Daniel J, Pires, Helena R, Carvalho, Cátia, Amorim, João, Carvalho, Ana X, Cheerambathur, Dhanya K, Gassmann, Reto

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Inflammatory Cytokine Patterns Associated with Neurological Diseases in Coronavirus Disease 2019 von Espíndola, Otávio M., Gomes, Yago C. P., Brandão, Carlos Otávio, Torres, Rafael C., Siqueira, Marilda, Soares, Cristiane N., Lima, Marco Antonio S. D., Leite, Ana Claudia C. B., Venturotti, Carolina O., Carvalho, Ana Julia C., Torezani, Guilherme, Araujo, Abelardo Q. C., Silva, Marcus Tulius T.

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Neurodevelopment in Infants Exposed to Zika Virus In Utero von Lopes Moreira, M. Elisabeth, Nielsen-Saines, Karin, Brasil, Patricia, Kerin, Tara, Damasceno, Luana, Pone, Marcos, Carvalho, Liege M.A, Pone, Sheila M, Vasconcelos, Zilton, Ribeiro, Ieda P, Zin, Andrea A, Tsui, Irena, Adachi, Kristina, Gaw, Stephanie L, Halai, Umme-Aiman, Salles, Tania S, da Cunha, Denise C, Bonaldo, Myrna C, Raja Gabaglia, Claudia, Guida, Leticia, Malacarne, Jociele, Costa, Roozemerie P, Gomes, S. Clair, Reis, A. Beatriz, Soares, Fernanda V.M, Hasue, Renata H, Aizawa, Carolina Y.P, Genovesi, Fernanda F, Aibe, Mitsue, Einspieler, Christa, Marschik, Peter B, Pereira, J. Paulo, Portari, Elyzabeth A, Janzen, Carla, Cherry, James D

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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps von Bilgrav Saether, Kristine, Eisfeldt, Jesper, Bengtsson, Jesse D., Lun, Ming Yin, Grochowski, Christopher M., Mahmoud, Medhat, Chao, Hsiao-Tuan, Rosenfeld, Jill A., Liu, Pengfei, Ek, Marlene, Schuy, Jakob, Ameur, Adam, Dai, Hongzheng, Hwang, James Paul, Sedlazeck, Fritz J., Bi, Weimin, Marom, Ronit, Wincent, Josephine, Nordgren, Ann, Carvalho, Claudia M. B., Lindstrand, Anna

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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes von Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

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Pervasive H3K27 Acetylation Leads to ERV Expression and a Therapeutic Vulnerability in H3K27M Gliomas von Krug, Brian, De Jay, Nicolas, Harutyunyan, Ashot S., Deshmukh, Shriya, Marchione, Dylan M., Guilhamon, Paul, Bertrand, Kelsey C., Mikael, Leonie G., McConechy, Melissa K., Chen, Carol C.L., Khazaei, Sima, Koncar, Robert F., Agnihotri, Sameer, Faury, Damien, Ellezam, Benjamin, Weil, Alexander G., Ursini-Siegel, Josie, De Carvalho, Daniel D., Dirks, Peter B., Lewis, Peter W., Salomoni, Paolo, Lupien, Mathieu, Arrowsmith, Cheryl, Lasko, Paul F., Garcia, Benjamin A., Kleinman, Claudia L., Jabado, Nada, Mack, Stephen C.

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 von Beck, Christine R., Carvalho, Claudia M.B., Akdemir, Zeynep C., Sedlazeck, Fritz J., Song, Xiaofei, Meng, Qingchang, Hu, Jianhong, Doddapaneni, Harsha, Chong, Zechen, Chen, Edward S., Thornton, Philip C., Liu, Pengfei, Yuan, Bo, Withers, Marjorie, Jhangiani, Shalini N., Kalra, Divya, Walker, Kimberly, English, Adam C., Han, Yi, Chen, Ken, Muzny, Donna M., Ira, Grzegorz, Shaw, Chad A., Gibbs, Richard A., Hastings, P.J., Lupski, James R.

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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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Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene von Bodkin, J. Alexander, Coleman, Michael J, Godfrey, Laura J, Carvalho, Claudia M.B, Morgan, Charity J, Suckow, Raymond F, Anderson, Thea, Öngür, Dost, Kaufman, Marc J, Lewandowski, Kathryn E, Siegel, Arthur J, Waldstreicher, Elliot, Grochowski, Christopher M, Javitt, Daniel C, Rujescu, Dan, Hebbring, Scott, Weinshilboum, Richard, Rodriguez, Stephanie Burgos, Kirchhoff, Colette, Visscher, Timothy, Vuckovic, Alexander, Fialkowski, Allison, McCarthy, Shane, Malhotra, Dheeraj, Sebat, Jonathan, Goff, Donald C, Hudson, James I, Lupski, James R, Coyle, Joseph T, Rudolph, Uwe, Levy, Deborah L

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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Biomarkers of waterborne copper exposure in the Neotropical fish Prochilodus lineatus von Simonato, Juliana D., Mela, Maritana, Doria, Halina B., Guiloski, Izonete C., Randi, Marco A.F., Carvalho, Paulo S.M., Meletti, Paulo C., Silva de Assis, Helena C., Bianchini, Adalto, Martinez, Claudia B.R.

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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort von Gambin, Tomasz, Akdemir, Zeynep C, Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M B, Shaw, Chad, Jhangiani, Shalini, Boone, Philip M, Eldomery, Mohammad K, Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W, Boerwinkle, Eric, Beaudet, Arthur L, Gibbs, Richard A, Lupski, James R

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Oceanic eddy-induced modifications to air–sea heat and CO2 fluxes in the Brazil-Malvinas Confluence von Pezzi, Luciano P., de Souza, Ronald B., Santini, Marcelo F., Miller, Arthur J., Carvalho, Jonas T., Parise, Claudia K., Quadro, Mario F., Rosa, Eliana B., Justino, Flavio, Sutil, Ueslei A., Cabrera, Mylene J., Babanin, Alexander V., Voermans, Joey, Nascimento, Ernani L., Alves, Rita C. M., Munchow, Gabriel B., Rubert, Joel

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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes von Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L., Lupski, James R., Carvalho, Claudia M.B.

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