未登录Reproductive outcomes in individuals with chromosomal reciprocal translocations
Verdoni, Angela; Hu, Jie; Surti, Urvashi; Babcock, Melanie; Sheehan, Elizabeth; Clemens, Michele; Drewes, Sarah; Walsh, Leslie; Clark, Rebecca; Katari, Sunita; Sanfilippo, Joe; Saller, Devereux N.; Rajkovic, Aleksandar; Yatsenko, Svetlana A. .png)
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收藏分享 收藏 Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variationMostovoy, Yulia; Yilmaz, Feyza; Chow, Stephen K.; Chu, Catherine; Lin, Chin; Geiger, Elizabeth A.; Meeks, Naomi J. L.; Chatfield, Kathryn C.; Coughlin, Curtis R.; Surti, Urvashi; Kwok, Pui-Yan; Shaikh, Tamim H. 分享 收藏 Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes (vol 78, pg 130, 2019)Khawajkie, Yassemine; Mechtouf, Nawel; Nguyen Ngoc Minh Phuong; Rahimi, Kurosh; Breguet, Magali; Arseneau, Jocelyne; Ronnett, Brigitte M.; Hoffner, Lori; Lazure, Felicia; Arnaud, Marjolaine; Peers, Fabrice; Tan, Liane; Rafea, Basam Abu; Aguinaga, Monica; Horowitz, Neil S.; Ao, Asangla; Tan, Seang Lin; Brown, Richard; Buckett, William; Surti, Urvashi; Hovanes, Karine; Sahoo, Trilochan; Sauthier, Philippe; Slim, Rima 分享 收藏 Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypesKhawajkie, Yassemine; Mechtouf, Nawel; Nguyen Ngoc Minh Phuong; Rahimi, Kurosh; Breguet, Magali; Arseneau, Jocelyne; Ronnett, Brigitte M.; Hoffner, Lori; Lazure, Felicia; Arnaud, Marjolaine; Peers, Fabrice; Tan, Liane; Abu Rafea, Basam; Aguinaga, Monica; Horowitz, Neil S.; Ao, Asangla; Tan, Seang Lin; Brown, Richard; Buckett, William; Surti, Urvashi; Hovanes, Karine; Sahoo, Trilochan; Sauthier, Philippe; Slim, Rima 分享 收藏 A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic molesAllias, Fabienne; Mechtouf, Nawel; Gaillot-Durand, Lucie; Hoffner, Lori; Hajri, Touria; Devouassoux-Shisheboran, Mojgan; Massardier, Jerome; Golfier, Francois; Bolze, Pierre-Adrien; Surti, Urvashi; Slim, Rima 分享 收藏 分享 收藏 分享 收藏 DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeJoshi, Ricky S.; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T.; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E.; Brunner, Han G.; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P.; Gimelli, Giorgio; Jacobson, Samuel G.; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J.; Montgomery, Stephen B.; Pagnamenta, Alistair T.; Papenhausen, Peter; Robinson, David O.; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A.; Surti, Urvashi; Wassink, Thomas; Sharp, Andrew J. 分享 收藏 Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsSzafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V.; Akdemir, Kadir Caner; Jhangiani, Shalini N.; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A.; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G.; Bateman, David A.; Wilson, Ashley L.; Markham, Melinda H.; Slamon, Jill; Santos-Simarro, Fernando; Palomares, Maria; Nevado, Julian; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A.; Kelly, David R.; Shieh, Joseph; Rosenthal, Taryn C.; Scheible, Kristin; Steiner, Laurie; Iqbal, M. Anwar; McKinnon, Margaret L.; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R.; DeNapoli, Thomas S.; Littlejohn, Rebecca Okashah; Wolff, Daynna J.; Wagner, Carol L.; Yeung, Alison; Francis, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Janssens, Sandra; De Baere, Elfride; Menten, Bjorn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S.; Kussmann, Jennifer L.; Chawla, Jasneek; Payton, Diane J.; Phillips, Gael E.; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; Mckay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A.; Langston, Claire; Lupski, James R.; Sen, Partha; Popek, Edwina; Stankiewicz, Pawel 分享 收藏 分享 收藏 分享 收藏 分享 收藏 MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal InstabilityWood-Trageser, Michelle A.; Gurbuz, Fatih; Yatsenko, Svetlana A.; Jeffries, Elizabeth P.; Kotan, L. Damla; Surti, Urvashi; Ketterer, Deborah M.; Matic, Jelena; Chipkin, Jacqueline; Jiang, Huaiyang; Trakselis, Michael A.; Topaloglu, A. Kemal; Rajkovic, Aleksandar 分享 收藏 Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instabilityAlAsiri, Saleh; Basit, Sulman; Wood-Trageser, Michelle A.; Yatsenko, Svetlana A.; Jeffries, Elizabeth P.; Surti, Urvashi; Ketterer, Deborah M.; Afzal, Sibtain; Ramzan, Khushnooda; Faiyaz-Ul Haque, Muhammad; Jiang, Huaiyang; Trakselis, Michael A.; Rajkovic, Aleksandar 分享 收藏 Single haplotype assembly of the human genome from a hydatidiform moleSteinberg, Karyn Meltz; Schneider, Valerie A.; Graves-Lindsay, Tina A.; Fulton, Robert S.; Agarwala, Richa; Huddleston, John; Shiryev, Sergey A.; Morgulis, Aleksandr; Surti, Urvashi; Warren, Wesley C.; Church, Deanna M.; Eichler, Evan E.; Wilson, Richard K. 分享 收藏 Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferationNgoc Minh Phuong Nguyen; Zhang, Li; Reddy, Ramesh; Dery, Christine; Arseneau, Jocelyne; Cheung, Annie; Surti, Urvashi; Hoffner, Lori; Seoud, Muhieddine; Zaatari, Ghazi; Bagga, Rashmi; Srinivasan, Radhika; Coullin, Philippe; Ao, Asangla; Slim, Rima 分享 收藏 分享 收藏 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresLamb, Allen N.; Rosenfeld, Jill A.; Neill, Nicholas J.; Talkowski, Michael E.; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I.; Rosenbaum, Kenneth; Vallee, Stephanie E.; Moeschler, John B.; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C.; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andree; Heron-Longe, Benedicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M.; Opheim, Kent E.; Descartes, Maria; Eichler, Evan E.; Morton, Cynthia C.; Gusella, James F.; Schultz, Roger A.; Ballif, Blake C.; Shaffer, Lisa G. 分享 收藏 Noninvasive Prenatal Diagnosis of a Fetal Microdeletion SyndromePeters, David; Chu, Tianjiao; Yatsenko, Svetlana A.; Hendrix, Nancy; Hogge, W. Allen; Surti, Urvashi; Bunce, Kimberly; Dunkel, Mary; Shaw, Patricia; Rajkovic, Aleksandar 分享 收藏 
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