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Systems nanoelectrochemistry from single entity to ensemble: general discussion Actis, Paolo; Aoki, Koichi; Baker, Lane A.; Caniglia, Giada; Dang, Ning; Ding, Zhifeng; Ewing, Andrew G.; Fu, Kaiyu X.; Gooding, J. Justin; Hiramoto, Kaoru; Jiang, Dechen; Kanoufi, Frederic; Kasianowicz, John J.; Kranz, Christine; Lang, Shuang-Yan; Li, Fei; Li, Haoran; Liu, Liang; Long, Yi-Tao; Lu, Jin; Lu, Si-Min; Mckelvey, Kim; Mount, Andrew R.; Ren, Hang; Shao, Yuanhua; Shen, Mei; Siwy, Zuzanna S.; Takahashi, Yasufumi; Tang, Juan; Wang, Haiyan; Wang, Jun-Gang; Wang, Kang; Wang, Liang; Wang, Yunong; Xia, Fan; Xie, Ruo-Chen; Ying, Yi-Lun; Zhang, Guohui; Zhao, Ziwen Share Save
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan Share Save
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CffDNA screening for Niemann-pick disease, type C1: a case series Lau, Sydney A.; Fawaz, Romy I.; Rigobello, Robert; Bawazeer, Shahad; Alajaji, Nouf M.; Faqeih, Eissa; Li, Yanchun; Feng, Yanming; Xia, Fan; Eng, Christine M.; Abedalthagafi, Malak Share Save
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Role of CAMK2D in neurodevelopment and associated conditions Rigter, Pomme M. F.; de Konink, Charlotte; Dunn, Matthew J.; Onori, Martina Proietti; Humberson, Jennifer B.; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E.; Weaver, K. Nicole; Ryan, Thomas D.; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N.; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P.; Bezieau, Stephane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M.; Xia, Fan; Rosenfeld, Jill A.; Hsieh, Tzung-Chien; Krawitz, Peter M.; Elbracht, Miriam; Veenma, Danielle C. M.; Schulman, Howard; Stratton, Margaret M.; Kury, Sebastien; van Woerden, Geeske M. Share Save
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory Meng, Linyan; Attali, Ruben; Talmy, Tomer; Regev, Yakir; Mizrahi, Niv; Smirin-Yosef, Pola; Vossaert, Liesbeth; Taborda, Christian; Santana, Michael; Machol, Ido; Xiao, Rui; Dai, Hongzheng; Eng, Christine; Xia, Fan; Tzur, Shay Share Save
Lessons drawn from China and South Korea for managing COVID-19 epidemic: Insights from a comparative modeling study Tang, Biao; Xia, Fan; Bragazzi, Nicola Luigi; McCarthy, Zachary; Wang, Xia; He, Sha; Sun, Xiaodan; Tang, Sanyi; Xiao, Yanni; Wu, Jianhong Share Save
Telemedicine and dermatology hospital consultations during the COVID-19 pandemic: a multi-centre observational study on resource utilization and conversion to in-person consultations during the COVID-19 pandemic Trinidad, J.; Gabel, C. K.; Han, J. J.; Bonomo, L.; Cartron, A.; Chand, S.; Coburn, W.; Daveluy, S.; Davis, M.; DeNiro, K. L.; Guggina, L. M.; Hennessy, K.; Hoffman, M.; Katz, K.; Keller, J. J.; Kim, S. J.; Konda, S.; Lake, E.; Lincoln, F. N.; Lo, J. A.; Markova, A.; Marvin, E. K.; Micheletti, R. G.; Newman, S.; Nutan, F. N. U.; Nguyen, C. V.; Pahalyants, V.; Patel, J.; Rahnama-Moghadam, S.; Rambhatla, P. V.; Riegert, M.; Reingold, R. E.; Robinson, D. B.; Rrapi, R.; Sartori-Valinotti, J. C.; Seminario-Vidal, L.; Sharif-Sidi, Z.; Smogorzewski, J.; Spaccarelli, N.; Stewart, J. R.; Tuttle, S. D.; Ulrich, M. N.; Wanat, K. A.; Di Xia, F.; Kaffenberger, B.; Kroshinsky, D. Share Save
Clinical experience with non-invasive prenatal screening for single-gene disorders Mohan, P.; Lemoine, J.; Trotter, C.; Rakova, I; Billings, P.; Peacock, S.; Kao, C-Y; Wang, Y.; Xia, F.; Eng, C. M.; Benn, P. Share Save
Effects of medical resource capacities and intensities of public mitigation measures on outcomes of COVID-19 outbreaks Wang, Xia; Li, Qian; Sun, Xiaodan; He, Sha; Xia, Fan; Song, Pengfei; Shao, Yiming; Wu, Jianhong; Cheke, Robert A.; Tang, Sanyi; Xiao, Yanni Share Save
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A.; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A.; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A.; Eng, Christine M.; Yang, Yaping; Lupski, James R.; Bi, Weimin Share Save
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A.; Lalani, Seema R.; Rosenfeld, Jill A.; Azamian, Mahshid S.; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Noh, Grace J.; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E.; Gavrilova, Ralitza; Mirzaa, Ghayda M.; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A.; Ekici, Arif B.; Gregor, Anne; van de Laar, Ingrid; Zweierl, Christiane Share Save
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Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies Ling, Chao; Dai, Yi; Fang, Li; Yao, Fengxia; Liu, Zhe; Qiu, Zhengqing; Cui, Liying; Xia, Fan; Zhao, Chen; Zhang, Shuyang; Wang, Kai; Zhang, Xue Share Save
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism Kim, Hyung-Goo; Rosenfeld, Jill A.; Scott, Daryl A.; Benedicte, Gerard; Labonne, Jonathan D.; Brown, Jason; McGuire, Marianne; Mahida, Sonal; Naidu, Sakkubai; Gutierrez, Jacqueline; Lesca, Gaetan; des Portes, Vincent; Bruel, Ange-Line; Sorlin, Arthur; Xia, Fan; Capri, Yline; Muller, Eric; McKnight, Dianalee; Torti, Erin; Rueschendorf, Franz; Hummel, Oliver; Islam, Zeyaul; Kolatkar, Prasanna R.; Layman, Lawrence C.; Ryu, Duchwan; Kong, Il-Keun; Madan-Khetarpal, Suneeta; Kim, Cheol-Hee Share Save
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission Guo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P. A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M. S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A.; de Vries, Bert B. A.; Bernier, Raphael A.; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B.; Eichler, Evan E.; Xia, Kun Share Save
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Fountain, Michael D.; Oleson, David S.; Rech, Megan E.; Segebrecht, Lara; Hunter, Jill, V; McCarthy, John M.; Lupo, Philip J.; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A.; Isidor, Bertrand; Le Caignec, Cedric; Saenz, Margarita S.; Pedersen, Robert C.; Morgan, Thomas M.; Pfotenhauer, Jean P.; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Krantz, Ian D.; Raible, Sarah E.; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Milian, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Kury, Sebastien; Bezieau, Stephane; Uguen, Kevin; Ferec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D.; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L.; Taft, Ryan J.; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F.; Horn, Denise; Spillmann, Rebecca C.; Pena, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. Share Save
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