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

Volltext

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode von Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias

Volltext

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype von Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.

Volltext

Boosting Electrocatalytic Nitrate Reduction to Ammonia via Promoting Water Dissociation von Zhou, Yiyang, Duan, Ruizhi, Li, Hao, Zhao, Miao, Ding, Chunmei, Li, Can

Volltext

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.

Volltext

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.

Volltext

Binuclear Metal Phthalocyanines with Enhanced Activity in the Oxygen Evolution Reaction: A First-Principles Study von Chen, Jun, Liu, Yang, Duan, Ruizhi, Huang, Qinge, Li, Can

Volltext

Rationally Modulating the Functions of Ni3Sn2‐NiSnOx Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction von Wang, Xiaomei, Long, Guifa, Liu, Bo, Li, Zelong, Gao, Wensheng, Zhang, Pengfei, Zhang, Hong, Zhou, Xia, Duan, Ruizhi, Hu, Wei, Li, Can

Volltext

Modulating crystal facets of photoanodes for photoelectrocatalytic scalable degradation of fluorinated pharmaceuticals in wastewater von Chi, Haibo, Ma, Jiangping, Duan, Ruizhi, Wang, Aoqi, Qiao, Yafei, Wang, Wangyin, Li, Can

Volltext

Amino Acid Synthesis through C–N Coupling between α‑Ketoacids and Hydroxylamine from Nitrate Reduction von Zhou, Yiyang, Duan, Ruizhi, Huang, Qing’e, Ding, Chunmei, Li, Can

Volltext

Fabrication of perovskite solar cells with PCE of 21.84% in open air by bottom-up defect passivation and stress releasement von Ning, Lei, Zha, Leying, Duan, Ruizhi, Gu, Ningxia, Du, Pingfan, Song, Lixin, Chen, Wei-Husiang, Xiong, Jie

Volltext

Promoting C–C coupling for CO2 reduction on Cu2O electrocatalysts with atomically dispersed Rh atoms von Feng, Chengcheng, Duan, Ruizhi, Chi, Haibo, Liu, Fengyuan, Song, Rui, Li, Mingrun, Yu, Wenguang, Ding, Chunmei, Li, Can

Volltext

Understanding the Synergistic Catalysis in Hydrogenation of Carbonyl Groups on Cu-Based Catalysts von Wang, Qing-Nan, Duan, Ruizhi, Feng, Zhendong, Zhang, Ying, Luan, Peng, Feng, Zhaochi, Wang, Jijie, Li, Can

Volltext

Promoting C-C coupling for CO reduction on CuO electrocatalysts with atomically dispersed Rh atoms von Feng, Chengcheng, Duan, Ruizhi, Chi, Haibo, Liu, Fengyuan, Song, Rui, Li, Mingrun, Yu, Wenguang, Ding, Chunmei, Li, Can

Volltext

Promoting C-C coupling for CO 2 reduction on Cu 2 O electrocatalysts with atomically dispersed Rh atoms von Feng, Chengcheng, Duan, Ruizhi, Chi, Haibo, Liu, Fengyuan, Song, Rui, Li, Mingrun, Yu, Wenguang, Ding, Chunmei, Li, Can

Volltext

Rationally Modulating the Functions of Ni 3 Sn 2 -NiSnO x Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction von Wang, Xiaomei, Long, Guifa, Liu, Bo, Li, Zelong, Gao, Wensheng, Zhang, Pengfei, Zhang, Hong, Zhou, Xia, Duan, Ruizhi, Hu, Wei, Li, Can

Volltext

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

Volltext

Centers for Mendelian Genomics: A decade of facilitating gene discovery von Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Lek, Monkol, Jhangiani, Shalini N., Lifton, Richard P., Matise, Tara C., Lupski, James R., Valle, David, Nickerson, Deborah A., Akay, Gulsen, Antonescu, Corina, Austin-Tse, Christina A., Bacus, Tamara J., Bahrambeigi, Vahid, Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boone, Philip M., Calame, Daniel, Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Clarke, Declan, Delano, Kayla, Doddapaneni, Harshavardhan, Du, Renqian, Fatih, Jawid, Francioli, Laurent C., Fu, Jack, Gambin, Tomasz, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Gonzaga-Jauregui, Claudia, Grochowski, Christopher M., Gu, Shen, Hansen, Adam, Harmanci, Arif O., Huang, Yongqing, Johanson, Eric, Karaca, Ender, Kumar, Sushant, Laricchia, Kristen M., Ling, Hua, Lipson, Rachel B., MacMillan, Melissa P., Marshall, Jamie L., Martin, Renan, McGee, Sean, Mekonnen, Betselote, Mullen, Thomas E., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nielsen, Patrick M., Nudelman, Natalie, O’Leary, Melanie C., Pais, Lynn S., Patterson, Karynne, Pehlivan, Davut, Penney, Samantha, Pierce-Hoffman, Emma, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Sabo, Aniko, Scott, Daryl A., Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Snow, Hana, Solomonson, Matthew, Song, Xiaofei, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Valivullah, Zaheer, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Wilson, Michael W., Wiszniewski, Wojciech, Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wu, Nan, Yi, Qian, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Yeting, Zoghbi, Huda, van den Veyver, Igna, O’Donnell-Luria, Anne

Volltext

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions von Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.

Volltext

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

Volltext