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Clinical validation of RNA sequencing for Mendelian disorder diagnostics Zhao, Sen; Macakova, Kristina; Sinson, Jefferson C.; Dai, Hongzheng; Rosenfeld, Jill; Zapata, Gladys E.; Li, Shenglan; Ward, Patricia A.; Wang, Christiana; Qu, Chunjing; Maywald, Becky; Lee, Brendan; Eng, Christine; Liu, Pengfei 分享 收藏
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis 双基因组下一代测序面板检测线粒体疾病的经验：一项全面的分子诊断 Gorman, Elizabeth; Dai, Hongzheng; Feng, Yanming; Craigen, William James; Chen, David C. Y.; Xia, Fan; Meng, Linyan; Liu, Pengfei; Rigobello, Robert; Neogi, Arpita; Eng, Christine M.; Wang, Yue 分享 收藏
CffDNA screening for Niemann-pick disease, type C1: a case series C1型尼曼-匹奇病的CffDNA筛查: 病例系列 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 分享 收藏
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing Li, Shenglan; Zhao, Sen; Sinson, Jefferson C.; Bajic, Aleksandar; Rosenfeld, Jill A.; Neeley, Matthew B.; Pena, Mezthly; Worley, Kim C.; Burrage, Lindsay C.; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William J.; Clark, Gary D.; Lalani, Seema; Bacino, Carlos A.; Machol, Keren; Chao, Hsiao-Tuan; Potocki, Lorraine; Emrick, Lisa; Sheppard, Jennifer; Nguyen, My T. T.; Khoramnia, Anahita; Hernandez, Paula Patricia; Nagamani, Sandesh CS.; Liu, Zhandong; Eng, Christine M.; Lee, Brendan; Liu, Pengfei 分享 收藏
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 分享 收藏
Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology Dai, Hongzheng; Vossaert, Liesbeth; Zhao, Xiaonan; Schulze, Katharina; Liu, Pengfei; Qu, Chunjing; Nguyen, Vy; Santana, Michael; Xia, Fan; Eng, Christine; Meng, Linyan 分享 收藏
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies Chen, Chun-An; Lattier, John; Zhu, Wenmiao; Rosenfeld, Jill; Wang, Lei; Scott, Tiana M.; Du, Haowei; Patel, Vipulkumar; Anh Dang; Magoulas, Pilar; Streff, Haley; Sebastian, Jessica; Svihovec, Shayna; Curry, Kathryn; Delgado, Mauricio R.; Hanchard, Neil A.; Lalani, Seema; Marom, Ronit; Madan-Khetarpal, Suneeta; Saenz, Margarita; Dai, Hongzheng; Meng, Linyan; Xia, Fan; Bi, Weimin; Liu, Pengfei; Posey, Jennifer E.; Scott, Daryl A.; Lupski, James R.; Eng, Christine M.; Xiao, Rui; Yuan, Bo 分享 收藏
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. 分享 收藏
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain PRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍 Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. 分享 收藏
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome 导致隐性高IgE综合征的细胞因子选择性IL6ST缺陷的功能和结构分析 Chen, Yin-Huai; Zastrow, Diane B.; Metcalfe, Riley D.; Gartner, Lisa; Krause, Freia; Morton, Craig J.; Marwaha, Shruti; Fresard, Laure; Huang, Yong; Zhao, Chunli; McCormack, Colleen; Bick, David; Worthey, Elizabeth A.; Eng, Christine M.; Gold, Jessica; Montgomery, Stephen B.; Fisher, Paul G.; Ashley, Euan A.; Wheeler, Matthew T.; Parker, Michael W.; Shanmugasundaram, Veerabahu; Putoczki, Tracy L.; Schmidt-Arras, Dirk; Laurence, Arian; Bernstein, Jonathan A.; Griffin, Michael D. W.; Uhlig, Holm H. 分享 收藏
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels CNVs引起常染色体隐性遗传疾病，无论是否涉及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 分享 收藏
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Frequency of genomic secondary findings among 21,915 eMERGE network participants Gordon, Adam S.; Zouk, Hana; Venner, Eric; Eng, Christine M.; Funke, Birgit H.; Amendola, Laura M.; Carrell, David S.; Chisholm, Rex L.; Chung, Wendy K.; Denny, Joshua C.; Fedotov, Alexander; Hakonarson, Hakon; Kullo, Iftikhar J.; Larson, Eric B.; Leduc, Magalie S.; Leppig, Kathleen A.; Lennon, Niall J.; Linder, Jodell E.; Muzny, Donna M.; Prows, Cynthia A.; Rasmussen-Torvik, Laura J.; Rasouly, Hila Milo; Roden, Dan M.; Rosenthal, Elisabeth A.; Smith, Maureen E.; Stanaway, Ian B.; Van Driest, Sara L.; Walker, Kimberly; Wiesner, Georgia L.; Williams, Marc S.; Witkowski, Leora; Crosslin, David R.; Gibbs, Richard A.; Rehm, Heidi L.; Jarvik, Gail P. 分享 收藏
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach Westemeyer, Maggie; Saucier, Jennifer; Wallace, Jody; Prins, Sarah A.; Shetty, Aparna; Malhotra, Meenakshi; Demko, Zachary P.; Eng, Christine M.; Weckstein, Louis; Boostanfar, Robert; Rabinowitz, Matthew; Benn, Peter; Keen-Kim, Dianne; Billings, Paul 分享 收藏
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (vol 56, pg 817, 2020) Westemeyer, Maggie; Saucier, Jennifer; Wallace, Jody; Prins, Sarah A.; Shetty, Aparna; Malhotra, Meenakshi; Demko, Zachary P.; Eng, Christine M.; Weckstein, Louis; Boostanfar, Robert; Rabinowitz, Matthew; Benn, Peter; Keen-Kim, Dianne; Billings, Paul 分享 收藏
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (vol 21, pg 2755, 2019) Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed Saeed Mohamed; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza 分享 收藏
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al Gazali, Lihadh; Al Shamsi, Aisha Mohamed Saeed Mohamed; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza 分享 收藏
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