未登录 Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR 使用实时qPCR对RNA-Seq文库进行测序前质量评估 Kottapalli, Kavya; Chao, Hsu; Jiang, Qi; Donelson, Jimmonique; Emerick, Nathanael; Bhamidipati, Sravya, V; Momin, Zeineen; Mathew, Tittu; Khan, Ziad M.; Korchina, Viktoriya; Gingras, Marie-Claude; Muzny, Donna; Gibbs, Richard; Doddapaneni, Harsha 分享 收藏
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R. 分享 收藏
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H. 分享 收藏
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation 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 分享 收藏
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders Forbes, Lisa R.; Eckstein, Olive S.; Gulati, Nitya; Peckham-Gregory, Erin C.; Ozuah, Nmazuo W.; Lubega, Joseph; El-Mallawany, Nader K.; Agrusa, Jennifer E.; Poli, M. Cecilia; Vogel, Tiphanie P.; Chaimowitz, Natalia S.; Rider, Nicholas L.; Mace, Emily M.; Orange, Jordan S.; Caldwell, Jason W.; Aldave-Becerra, Juan C.; Jolles, Stephen; Saettini, Francesco; Chong, Hey J.; Stray-Pedersen, Asbjorg; Heslop, Helen E.; Kamdar, Kala Y.; Rouce, R. Helen; Muzny, Donna M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Coban-Akdemir, Zeynep H.; Lupski, James R.; McClain, Kenneth L.; Allen, Carl E.; Chinn, Ivan K. 分享 收藏
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation POLR2A的种系突变: 一种以转录失调为特征的异质性、多系统发育障碍 Hansen, Adam W.; Arora, Payal; Khayat, Michael M.; Smith, Leah J.; Lewis, Andrea M.; Rossetti, Linda Z.; Jayaseelan, Joy; Cristian, Ingrid; Haynes, Devon; DiTroia, Stephanie; Meeks, Naomi; Delgado, Mauricio R.; Rosenfeld, Jill A.; Pais, Lynn; White, Susan M.; Meng, Qingchang; Pehlivan, Davut; Liu, Pengfei; Gingras, Marie-Claude; Wangler, Michael F.; Muzny, Donna M.; Lupski, James R.; Kaplan, Craig D.; Gibbs, Richard A. 分享 收藏
Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review of published cases Montenegro-Garreaud, Ximena; Hansen, Adam W.; Khayat, Michael M.; Chander, Varuna; Grochowski, Christopher M.; Jiang, Yunyun; Li, He; Mitani, Tadahiro; Kessler, Elena; Jayaseelan, Joy; Shen, Hua; Gezdirici, Alper; Pehlivan, Davut; Meng, Qingchang; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Madan-Khetarpal, Suneeta; Scott, Daryl A.; Abarca-Barriga, Hugo; Trubnykova, Milana; Gingras, Marie-Claude; Muzny, Donna M.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Gibbs, Richard A. 分享 收藏
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease Robak, Laurie A.; Du, Renqian; Yuan, Bo; Gu, Shen; Alfradique-Dunham, Isabel; Kondapalli, Vismaya; Hinojosa, Evelyn; Stillwell, Amanda; Young, Emily; Zhang, Chaofan; Song, Xiaofei; Du, Haowei; Gambin, Tomasz; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Muzny, Donna M.; Tejomurtula, Anusha; Ross, Owen A.; Shaw, Chad; Jankovic, Joseph; Bi, Weimin; Posey, Jennifer E.; Lupski, James R.; Shulman, Joshua M. 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
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
Human NK cell deficiency as a result of biallelic mutations in MCM10 Mace, Emily M.; Paust, Silke; Conte, Matilde I.; Baxley, Ryan M.; Schmit, Megan M.; Patil, Sagar L.; Guilz, Nicole C.; Mukherjee, Malini; Pezzi, Ashley E.; Chmielowiec, Jolanta; Tatineni, Swetha; Chinn, Ivan K.; Akdemir, Zeynep Coban; Jhangiani, Shalini N.; Muzny, Donna M.; Stray-Pedersen, Asbjorg; Bradley, Rachel E.; Moody, Mo; Connor, Philip P.; Heaps, Adrian G.; Steward, Colin; Banerjee, Pinaki P.; Gibbs, Richard A.; Borowiak, Malgorzata; Lupski, James R.; Jolles, Stephen; Bielinsky, Anja K.; Orange, Jordan S. 分享 收藏
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID Kuhny, Marcel; Forbes, Lisa R.; Cakan, Elif; Vega-Loza, Andrea; Kostiuk, Valentyna; Dinesh, Ravi K.; Glauzy, Salome; Stray-Pedersen, Asbjorg; Pezzi, Ashley E.; Hanson, I. Celine; Vargas-Hernandez, Alexander; Xu, Mina LuQuing; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Chinn, Ivan K.; Schatz, David G.; Orange, Jordan S.; Meffre, Eric 分享 收藏
Sawfly Genomes Reveal Evolutionary Acquisitions That Fostered the Mega-Radiation of Parasitoid and Eusocial Hymenoptera 锯蝇基因组揭示了进化过程，促进了寄生虫和社会膜翅目的巨大辐射 Oeyen, Jan Philip; Baa-Puyoulet, Patrice; Benoit, Joshua B.; Beukeboom, Leo W.; Bornberg-Bauer, Erich; Buttstedt, Anja; Calevro, Federica; Cash, Elizabeth, I; Chao, Hsu; Charles, Hubert; Chen, Mei-Ju May; Childers, Christopher; Cridge, Andrew G.; Dearden, Peter; Huyen Dinh; Doddapaneni, Harsha Vardhan; Dolan, Amanda; Donath, Alexander; Dowling, Daniel; Dugan, Shannon; Duncan, Elizabeth; Elpidina, Elena N.; Friedrich, Markus; Geuverink, Elzemiek; Gibson, Joshua D.; Grath, Sonja; Grimmelikhuijzen, Cornelis J. P.; Grosse-Wilde, Ewald; Gudobba, Cameron; Han, Yi; Hansson, Bill S.; Hauser, Frank; Hughes, Daniel S. T.; Ioannidis, Panagiotis; Jacquin-Joly, Emmanuelle; Jennings, Emily C.; Jones, Jeffery W.; Klasberg, Steffen; Lee, Sandra L.; Lesny, Peter; Lovegrove, Mackenzie; Martin, Sebastian; Martynov, Alexander G.; Mayer, Christoph; Montagne, Nicolas; Moris, Victoria C.; Munoz-Torres, Monica; Murali, Shwetha Canchi; Muzny, Donna M.; Oppert, Brenda; Parisot, Nicolas; Pauli, Thomas; Peters, Ralph S.; Petersen, Malte; Pick, Christian; Persyn, Emma; Podsiadlowski, Lars; Poelchau, Monica F.; Provataris, Panagiotis; Qu, Jiaxin; Reijnders, Maarten J. M. F.; von Reumont, Bjoern Marcus; Rosendale, Andrew J.; Simao, Felipe A.; Skelly, John; Sotiropoulos, Alexandros G.; Stahl, Aaron L.; Sumitani, Megumi; Szuter, Elise M.; Tidswell, Olivia; Tsitlakidis, Evangelos; Vedder, Lucia; Waterhouse, Robert M.; Werren, John H.; Wilbrandt, Jeanne; Worley, Kim C.; Yamamoto, Daisuke S.; van de Zande, Louis; Zdobnov, Evgeny M.; Ziesmann, Tanja; Gibbs, Richard A.; Richards, Stephen; Hatakeyama, Masatsugu; Misof, Bernhard; Niehuis, Oliver 分享 收藏
A Genocentric Approach to Discovery of Mendelian Disorders Hansen, Adam W.; Murugan, Mullai; Li, He; Khayat, Michael M.; Wang, Liwen; Rosenfeld, Jill; Andrews, B. Kim; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Sedlazeck, Fritz J.; Ashley-Koch, Allison E.; Liu, Pengfei; Muzny, Donna M.; Davis, Erica E.; Katsanis, Nicholas; Sabo, Aniko; Posey, Jennifer E.; Yang, Yaping; Wangler, Michael F.; Eng, Christine M.; Sutton, V. Reid; Lupski, James R.; Boerwinkle, Eric; Gibbs, Richard A. 分享 收藏
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function Lam, Michael T.; Coppola, Simona; Krumbach, Oliver H. F.; Prencipe, Giusi; Insalaco, Antonella; Cifaldi, Cristina; Brigida, Immacolata; Zara, Erika; Scala, Serena; Di Cesare, Silvia; Martinelli, Simone; Di Rocco, Martina; Pascarella, Antonia; Niceta, Marcello; Pantaleoni, Francesca; Ciolfi, Andrea; Netter, Petra; Carisey, Alexandre F.; Diehl, Michael; Akbarzadeh, Mohammad; Conti, Francesca; Merli, Pietro; Pastore, Anna; Mortera, Stefano Levi; Camerini, Serena; Farina, Luciapia; Buchholzer, Marcel; Pannone, Luca; Cao, Tram N.; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Basso-Ricci, Luca; Chiriaco, Maria; Dvorsky, Radovan; Putignani, Lorenza; Carsetti, Rita; Janning, Petra; Stray-Pedersen, Asbjorg; Erichsen, Hans Christian; Horne, AnnaCarin; Bryceson, Yenan T.; Torralba-Raga, Lamberto; Ramme, Kim; Rosti, Vittorio; Bracaglia, Claudia; Messia, Virginia; Palma, Paolo; Finocchi, Andrea; Locatelli, Franco; Chinn, Ivan K.; Lupski, James R.; Mace, Emily M.; Cancrini, Caterina; Aiuti, Alessandro; Ahmadian, Mohammad R.; Orange, Jordan S.; De Benedetti, Fabrizio; Tartaglia, Marco 分享 收藏
Paralog Studies Augment Gene Discovery: DDX and DHX Genes Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Akdemir, Zeynep Coban; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K. Y.; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, Rene; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J.; Wilichowski, Ekkehard; Wortmann, Saskia B.; Casella, Erasmo B.; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M.; Bamshad, Michael; Gibbs, Richard A.; Sutton, V. Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B.; Glass, Ian; Lessel, Davor; Lyon, Gholson J.; Lupski, James R. 分享 收藏
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R. 分享 收藏
Reanalysis of Clinical Exome Sequencing Data Liu, Pengfei; Meng, Linyan; Normand, Elizabeth A.; Xia, Fan; Song, Xiaofei; Ghazi, Andrew; Rosenfeld, Jill; Magoulas, Pilar L.; Braxton, Alicia; Ward, Patricia; Dai, Hongzheng; Yuan, Bo; Bi, Weimin; Xiao, Rui; Wang, Xia; Chiang, Theodore; Vetrini, Francesco; He, Weimin; Cheng, Hanyin; Dong, Jie; Gijavanekar, Charul; Benke, Paul J.; Bernstein, Jonathan A.; Eble, Tanya; Eroglu, Yasemen; Erwin, Deanna; Escobar, Luis; Gibson, James B.; Gripp, Karen; Kleppe, Soledad; Koenig, Mary K.; Lewis, Andrea M.; Natowicz, Marvin; Mancias, Pedro; Minor, LaKeesha; Scaglia, Fernando; Schaaf, Christian P.; Streff, Haley; Vernon, Hilary; Uhles, Crescenda L.; Zackai, Elaine H.; Wu, Nan; Sutton, V. Reid; Beaudet, Arthur L.; Muzny, Donna; Gibbs, Richard A.; Posey, Jennifer E.; Lalani, Seema; Shaw, Chad; Eng, Christine M.; Lupski, James R.; Yang, Yaping 分享 收藏
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases Dharmadhikari, Avinash V.; Ghosh, Rajarshi; Yuan, Bo; Liu, Pengfei; Dai, Hongzheng; Al Masri, Sami; Scull, Jennifer; Posey, Jennifer E.; Jiang, Allen H.; He, Weimin; Vetrini, Francesco; Braxton, Alicia A.; Ward, Patricia; Chiang, Theodore; Qu, Chunjing; Gu, Shen; Shaw, Chad A.; Smith, Janice L.; Lalani, Seema; Stankiewicz, Pawel; Cheung, Sau-Wai; Bacino, Carlos A.; Patel, Ankita; Breman, Amy M.; Wang, Xia; Meng, Linyan; Xiao, Rui; Xia, Fan; Muzny, Donna; Gibbs, Richard A.; Beaudet, Arthur L.; Eng, Christine M.; Lupski, James R.; Yang, Yaping; Bi, Weimin 分享 收藏
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Akdemir, Zeynep Hande Coban; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Abali, Saygin; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J.; Yesil, Gozde; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R. 分享 收藏
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