Health literacy in patients with gout: A latent profile analysis von Cai, Shuo, Hu, Danqing, Wang, Derong, Zhao, Jianchun, Du, Haowei, Wang, Aimin, Song, Yuting

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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits von Duan, Ruizhi, Du, Haowei, Dardas, Zain, Lupski, James

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy von Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy von Dardas, Zain, Fatih, Jawid M, Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M, Jones, Edward G, Jhangiani, Shalini N, Wehrens, Xander H T, Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Coban-Akdemir, Zeynep, Morris, Shaine A

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Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome von Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation von Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei

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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome von Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability von Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.

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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome von Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., Lupski, James R.

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy von Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.

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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant von Calame, Daniel G., Fatih, Jawid M., Herman, Isabella, Coban‐Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Jhangiani, Shalini N., Marafi, Dana, Gibbs, Richard A., Posey, Jennifer E., Mehta, Vidya P., Mohila, Carrie A., Abid, Farida, Lotze, Timothy E., Pehlivan, Davut, Adesina, Adekunle M., Lupski, James R.

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Experimental and computational investigations of flexible membrane nano rotors in hover von Liu, Zhen, Du, Haowei, Li, Shiqi, Kang, Zihan, Dang, Tianjiao

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Thermal performance and applied evaluation of the pre-bored grouting planted nodular pile in warm frozen soil von Zhang, Qi, Zhang, Tianqi, Dong, Yuanhong, Zhang, Tianyuan, Wei, Yao, Hao, Ruoyu, Zhao, Nanlu, Du, Haowei

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Hourly operation strategy of a CCHP system with GSHP and thermal energy storage (TES) under variable loads: A case study von Liu, Wei, Chen, Guanyi, Yan, Beibei, Zhou, Zhihua, Du, Haowei, Zuo, Jian

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Breast tumours maintain a reservoir of subclonal diversity during expansion von Minussi, Darlan C., Nicholson, Michael D., Ye, Hanghui, Davis, Alexander, Wang, Kaile, Baker, Toby, Tarabichi, Maxime, Sei, Emi, Du, Haowei, Rabbani, Mashiat, Peng, Cheng, Hu, Min, Bai, Shanshan, Lin, Yu-wei, Schalck, Aislyn, Multani, Asha, Ma, Jin, McDonald, Thomas O., Casasent, Anna, Barrera, Angelica, Chen, Hui, Lim, Bora, Arun, Banu, Meric-Bernstam, Funda, Van Loo, Peter, Michor, Franziska, Navin, Nicholas E.

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Effect of discharge pulse frequency on the microstructure and field-emission performance of CNX films deposited by pulse cathode arc evaporation von Du, Haowei, Zhou, Bing, Piliptsou, D. G., Sun, Hui, Ma, Yong, Hei, Hongjun, Yu, Shengwang, Liu, Zhubo

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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia von Zemet, Roni, Du, Haowei, Gambin, Tomasz, Lupski, James R., Liu, Pengfei, Stankiewicz, Paweł

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Health literacy in patients with gout: A latent profile analysis von Shuo Cai, Danqing Hu, Derong Wang, Jianchun Zhao, Haowei Du, Aimin Wang, Yuting Song

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 von Dardas, Zain, Marafi, Dana, Duan, Ruizhi, Fatih, Jawid M, El-Rashidy, Omnia F, Grochowski, Christopher M, Carvalho, Claudia M B, Jhangiani, Shalini N, Bi, Weimin, Du, Haowei, Gibbs, Richard A, Posey, Jennifer E, Calame, Daniel G, Zaki, Maha S, Lupski, James R

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease von Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.

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