未登录 分享 收藏
分享 收藏
Correspondence on Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) by Grebe et al Reply Grebe, Theresa A.; Khushf, George; Greally, John M.; Turley, Patrick; Foyouzi, Nastaran; Rabin-Havt, Sara; Berkman, Benjamin; Pope, Kathleen; Vatta, Matteo; Kaur, Shagun 分享 收藏
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population Marathe, Priya N.; Suckiel, Sabrina A.; Bonini, Katherine E.; Kelly, Nicole R.; Scarimbolo, Laura; Insel, Beverly J.; Odgis, Jacqueline A.; Sebastin, Monisha; Ramos, Michelle A.; Di Biase, Miranda; Gallagher, Katie M.; Brown, Kaitlyn; Rodriguez, Jessica E.; Yelton, Nicole; Aguiniga, Karla Lopez; Rodriguez, Michelle A.; Maria, Estefany; Lopez, Jessenia; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Wasserstein, Melissa P.; Kenny, Eimear E.; Horowitz, Carol R. 分享 收藏
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders Berkalieva, Asem; Kelly, Nicole R.; Fisher, Ashley; Hohmann, Samuel F.; Abul-Husn, Noura S.; Greally, John M.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelb, Bruce D.; Ferket, Bart S. 分享 收藏
Deciphering epigenetic regulation of enhancers in high-risk prostate cancer Tuzova, A. V.; Moran, B.; Russell, N. M.; Das, S.; Delahaye, F.; Silva, R.; Barrett, C.; Watson, R. W. G.; O'Neill, A.; Gallagher, W. M.; Greally, J.; Perry, A. S. 分享 收藏
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 剪接体功能异常导致具有重叠特征的神经发育障碍 Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon 分享 收藏
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program Berkalieva, Asem; Kelly, Nicole R.; Fisher, Ashley; Hohmann, Samuel F.; Sebastin, Monisha; Di Biase, Miranda; Bonini, Katherine E.; Marathe, Priya; Odgis, Jacqueline A.; Suckiel, Sabrina A.; Ramos, Michelle A.; Rhodes, Rosamond; Abul-Husn, Noura S.; Greally, John M.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelb, Bruce D.; Ferket, Bart S. 分享 收藏
Acute Lymphoblastic Leukemia with Myeloid Mutations Is a High-Risk Disease Associated with Clonal Hematopoiesis Saygin, Caner; Zhang, Pu; Stauber, Jacob; Aldoss, Ibrahim; Sperling, Adam S.; Weeks, Lachelle D.; Luskin, Marlise R.; Knepper, Todd C.; Wanjari, Pankhuri; Wang, Peng; Lager, Angela M.; Fitzpatrick, Carrie; Segal, Jeremy P.; Gharghabi, Mehdi; Gurbuxani, Sandeep; Venkataraman, Girish; Cheng, Jason X.; Eisfelder, Bart J.; Bohorquez, Oliver; Patel, Anand A.; Umesh Nagalakshmi, Sheethal; Jayaram, Savita; Odenike, Olatoyosi M.; Larson, Richard A.; Godley, Lucy A.; Arber, Daniel A.; Gibson, Christopher J.; Munshi, Nikhil C.; Marcucci, Guido; Ebert, Benjamin L.; Greally, John M.; Steidl, Ulrich; Lapalombella, Rosa; Shah, Bijal D.; Stock, Wendy 分享 收藏
The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse families Suckiel, Sabrina A.; Kelly, Nicole R.; Odgis, Jacqueline A.; Gallagher, Katie M.; Sebastin, Monisha; Bonini, Katherine E.; Marathe, Priya N.; Brown, Kaitlyn; Biase, Miranda Di; Ramos, Michelle A.; Rodriguez, Jessica E.; Scarimbolo, Laura; Insel, Beverly J.; Ferar, Kathleen D. M.; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E. 分享 收藏
分享 收藏
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients Abul-Husn, Noura S.; Marathe, Priya N.; Kelly, Nicole R.; Bonini, Katherine E.; Sebastin, Monisha; Odgis, Jacqueline A.; Abhyankar, Avinash; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Guha, Saurav; Ioele, Nicolette; Okur, Volkan; Ramos, Michelle A.; Rodriguez, Jessica E.; Rehman, Atteeq U.; Thomas-Wilson, Amanda; Edelmann, Lisa; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Jobanputra, Vaidehi; Suckiel, Sabrina A.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelh, Bruce D. 分享 收藏
分享 收藏
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders McGee, Stacey R.; Rajamanickam, Shivakumar; Adhikari, Sandeep; Falayi, Oluwatosin C.; Wilson, Theresa A.; Shayota, Brian J.; Coleman, Jessica A. Cooley; Skinner, Cindy; Caylor, Raymond C.; Stevenson, Roger E.; Quaio, Caio Robledo D' Angioli Costa; Wilke, Berenice Cunha; Bain, Jennifer M.; Anyane-Yeboa, Kwame; Brown, Kaitlyn; Greally, John M.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A. L.; Politi, Keren; Arbogast, Lydia A.; Collard, Michael W.; Huggenvik, Jodi, I; Elsea, Sarah H.; Jensik, Philip J. 分享 收藏
Recommendations for clinical interpretation of variants found in non-coding regions of the genome 在基因组非编码区发现的变异的临床解释建议 Ellingford, Jamie M.; Ahn, Joo Wook; Bagnall, Richard D.; Baralle, Diana; Barton, Stephanie; Campbell, Chris; Downes, Kate; Ellard, Sian; Duff-Farrier, Celia; FitzPatrick, David R.; Greally, John M.; Ingles, Jodie; Krishnan, Neesha; Lord, Jenny; Martin, Hilary C.; Newman, William G.; O'Donnell-Luria, Anne; Ramsden, Simon C.; Rehm, Heidi L.; Richardson, Ebony; Singer-Berk, Moriel; Taylor, Jenny C.; Williams, Maggie; Wood, Jordan C.; Wright, Caroline F.; Harrison, Steven M.; Whiffin, Nicola 分享 收藏
The SEQC2 epigenomics quality control (EpiQC) study Foox, Jonathan; Nordlund, Jessica; Lalancette, Claudia; Gong, Ting; Lacey, Michelle; Lent, Samantha; Langhorst, Bradley W.; Ponnaluri, V. K. Chaithanya; Williams, Louise; Padmanabhan, Karthik Ramaswamy; Cavalcante, Raymond; Lundmark, Anders; Butler, Daniel; Mozsary, Christopher; Gurvitch, Justin; Greally, John M.; Suzuki, Masako; Menor, Mark; Nasu, Masaki; Alonso, Alicia; Sheridan, Caroline; Scherer, Andreas; Bruinsma, Stephen; Golda, Gosia; Muszynska, Agata; Labaj, Pawel P.; Campbell, Matthew A.; Wos, Frank; Raine, Amanda; Liljedahl, Ulrika; Axelsson, Tomas; Wang, Charles; Chen, Zhong; Yang, Zhaowei; Li, Jing; Yang, Xiaopeng; Wang, Hongwei; Melnick, Ari; Guo, Shang; Blume, Alexander; Franke, Vedran; Ibanez de Caceres, Inmaculada; Rodriguez-Antolin, Carlos; Rosas, Rocio; Davis, Justin Wade; Ishii, Jennifer; Megherbi, Dalila B.; Xiao, Wenming; Liao, Will; Xu, Joshua; Hong, Huixiao; Ning, Baitang; Tong, Weida; Akalin, Altuna; Wang, Yunliang; Deng, Youping; Mason, Christopher E. 分享 收藏
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis Pearson, Nathaniel M.; Stolte, Christian; Shi, Kevin; Beren, Faygel; Abul-Husn, Noura S.; Bertier, Gabrielle; Brown, Kaitlyn; Diaz, George A.; Odgis, Jacqueline A.; Suckiel, Sabrina A.; Horowitz, Carol R.; Wasserstein, Melissa; Gelb, Bruce D.; Kenny, Eimear E.; Gagnon, Charles; Jobanputra, Vaidehi; Bloom, Toby; Greally, John M. 分享 收藏
分享 收藏
GUiA: a digital platform to facilitate result disclosure in genetic counseling Suckiel, Sabrina A.; Odgis, Jaqueline A.; Gallagher, Katie M.; Rodriguez, Jessica E.; Watnick, Dana; Bertier, Gabrielle; Sebastin, Monisha; Yelton, Nicole; Maria, Estefany; Lopez, Jessenia; Ramos, Michelle; Kelly, Nicole; Teitelman, Nehama; Beren, Faygel; Kaszemacher, Tom; Davis, Kojo; Laguerre, Irma; Richardson, Lynne D.; Diaz, George A.; Pearson, Nathaniel M.; Ellis, Stephen B.; Stolte, Christian; Robinson, Mimsie; Kovatch, Patricia; Horowitz, Carol R.; Gelb, Bruce D.; Greally, John M.; Bauman, Laurie J.; Zinberg, Randi E.; Abul-Husn, Noura S.; Wasserstein, Melissa P.; Kenny, Eimear E. 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
