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Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry Erker, Craig; Lane, Adam; Chaney, Brooklyn; Leary, Sarah; Minturn, Jane E.; Bartels, Ute; Packer, Roger J.; Dorris, Kathleen; Gottardo, Nicholas G.; Warren, Katherine E.; Broniscer, Alberto; Kieran, Mark W.; Zhu, Xiaoting; White, Peter; Dexheimer, Phillip J.; Black, Katie; Asher, Anthony; DeWire, Mariko; Hansford, Jordan R.; Gururangan, Sridharan; Nazarian, Javad; Ziegler, David S.; Sandler, Eric; Bartlett, Allison; Goldman, Stewart; Shih, Chie-Schin; Hassall, Tim; Dholaria, Hetal; Bandopadhayay, Pratiti; Samson, Yvan; Monje, Michelle; Fisher, Paul G.; Dodgshun, Andrew; Parkin, Sarah; Chintagumpala, Murali; Tsui, Karen; Gass, David; Larouche, Valerie; Broxson, Emmett; Lombardi, Mercedes Garcia; Wang, Stacie Shiqi; Ma, Jie; Hawkins, Cynthia; Hamideh, Dima; Wagner, Lars; Koschmann, Carl; Fuller, Christine; Drissi, Rachid; Jones, Blaise, V; Leach, James; Fouladi, Maryam 分享 收藏
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system Mandl, Kenneth D.; Glauser, Tracy; Krantz, Ian D.; Avillach, Paul; Bartels, Anna; Beggs, Alan H.; Biswas, Sawona; Bourgeois, Florence T.; Corsmo, Jeremy; Dauber, Andrew; Devkota, Batsal; Fleisher, Gary R.; Heath, Allison P.; Helbig, Ingo; Hirschhorn, Joel N.; Kilbourn, Judson; Kong, Sek Won; Kornetsky, Susan; Majzoub, Joseph A.; Marsolo, Keith; Martin, Lisa J.; Nix, Jeremy; Schwarzhoff, Amy; Stedman, Jason; Strauss, Arnold; Sund, Kristen L.; Taylor, Deanne M.; White, Peter S.; Marsh, Eric; Grimberg, Adda; Hawkes, Colin; Barkman, Darlene; Borglund, Erin M.; Chakrabarty, Ramkrishna; Chandel, Alka; Degala, Anil Kumar; DeSain, Thomas; Dexheimer, Philip; Divekar, Parth; Ellis, Alyssa; Furgason, Mike; Geehan, Christopher; Guidetti, Andrew Joseph; Gutierrez, Alba; Hallinan, Barbara; Harper, Becca; Jalali, Niloofar; Khanna, Jaspreet; Kirby, Christopher; Korodi, Gabor; Kouril, Michal; Kratchman, Amy; Kumar, Ranjay; Labilloy, Guillaume; Lee, In-Hee; Morgan, Bria; Morgan, James; Muglia, Louis J.; Nikitin, Aleksandr; Pistone, Mike; Poduri, Anna; Rupert, Andrew; Safier, Kristen; Sliz, Piotr; Stevenson, Gelvina; St Gemeiii, Joseph; Thaker, Vidhu; Temporal, Simone; Velayutham, Prakash; Wijesooriya, Julie; Wolf, Bryan; Wooten, Andrew; Yen, Alan; Zhang, Yu 分享 收藏
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system (vol 74, pg 879, 2020) Mandl, Kenneth D.; Glauser, Tracy; Krantz, Ian D.; Avillach, Paul; Bartels, Anna; Beggs, Alan H.; Biswas, Sawona; Bourgeois, Florence T.; Corsmo, Jeremy; Dauber, Andrew; Devkota, Batsal; Fleisher, Gary R.; Heath, Allison P.; Helbig, Ingo; Hirschhorn, Joel N.; Kilbourn, Judson; Kong, Sek Won; Kornetsky, Susan; Majzoub, Joseph A.; Marsolo, Keith; Martin, Lisa J.; Nix, Jeremy; Schwarzhoff, Amy; Stedman, Jason; Strauss, Arnold; Sund, Kristen L.; Taylor, Deanne M.; White, Peter S.; Marsh, Eric; Grimberg, Adda; Hawkes, Colin 分享 收藏
Molecular profiling identifies a second malignancy in a patient with medulloblastoma Schieffer, Kathleen M.; Miller, Katherine E.; Boue, Daniel R.; Koboldt, Daniel C.; Brennan, Patrick; Kelly, Benjamin J.; Wheeler, Gregory; Magrini, Vincent; Wetzel, Amy; Varga, Elizabeth; Dishman, Devon; Leraas, Kristen; Agarwal, Vibhuti; AbdelBaki, Mohamed S.; Finlay, Jonathan L.; Leonard, Jeffrey R.; White, Peter; Gastier-Foster, Julie M.; Cottrell, Catherine E.; Mardis, Elaine R.; Wilson, Richard K. 分享 收藏
Expression profiling based characterization of immune cell populations in pediatric brain cancers Miller, Katherine E.; Schieffer, Kathleen; Fitch, James; Magrini, Vincent; Wetzel, Amy; Miller, Anthony R.; Boue, Daniel R.; Leonard, Jeffrey; Finlay, Jonathan L.; Osorio, Diana S.; AbdelBaki, Mohamed S.; Pierson, Christopher R.; Drapeau, Annie; Pindrik, Jonathan; Leraas, Kristen; Varga, Elizabeth; Dishman, Devon; Shoemaker, Lauren; Ross, Nicole; Pitts, Jeremy; Gastier-Foster, Julie; White, Peter; Cottrell, Catherine E.; Wilson, Richard K.; Mardis, Elaine R. 分享 收藏
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy AP2M1中的复发性错义变体会损害网格蛋白介导的内吞作用，并导致发育性和癫痫性脑病 Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter 分享 收藏
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution Taylor, Deanne M.; Aronow, Bruce J.; Tan, Kai; Bernt, Kathrin; Salomonis, Nathan; Greene, Casey S.; Frolova, Alina; Henrickson, Sarah E.; Wells, Andrew; Pei, Liming; Jaiswal, Jyoti K.; Whitsett, Jeffrey; Hamilton, Kathryn E.; MacParland, Sonya A.; Kelsen, Judith; Heuckeroth, Robert O.; Potter, S. Steven; Vella, Laura A.; Terry, Natalie A.; Ghanem, Louis R.; Kennedy, Benjamin C.; Helbig, Ingo; Sullivan, Kathleen E.; Castelo-Soccio, Leslie; Kreigstein, Arnold; Herse, Florian; Nawijn, Martijn C.; Koppelman, Gerard H.; Haendel, Melissa; Harris, Nomi L.; Rokita, Jo Lynne; Zhang, Yuanchao; Regev, Aviv; Rozenblatt-Rosen, Orit; Rood, Jennifer E.; Tickle, Timothy L.; Vento-Tormo, Roser; Alimohamed, Saif; Lek, Monkol; Mar, Jessica C.; Loomes, Kathleen M.; Barrett, David M.; Uapinyoying, Prech; Beggs, Alan H.; Agrawal, Pankaj B.; Chen, Yi-Wen; Muir, Amanda B.; Garmire, Lana X.; Snapper, Scott B.; Nazarian, Javad; Seeholzer, Steven H.; Fazelinia, Hossein; Singh, Larry N.; Faryabi, Robert B.; Raman, Pichai; Dawany, Noor; Xie, Hongbo Michael; Devkota, Batsal; Diskin, Sharon J.; Anderson, Stewart A.; Rappaport, Eric F.; Peranteau, William; Wikenheiser-Brokamp, Kathryn A.; Teichmann, Sarah; Wallace, Douglas; Peng, Tao; Ding, Yang-yang; Kim, Man S.; Xing, Yi; Kong, Sek Won; Bonnemann, Carsten G.; Mandl, Kenneth D.; White, Peter S. 分享 收藏
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data (vol 20, pg 329, 2018) Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S.; Pennington, Jeffrey; Luo, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni 分享 收藏
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data (vol 20, pg 329, 2018) Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S.; Pennington, Jeffrey; Lou, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni 分享 收藏
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S.; Pennington, Jeffrey; Lou, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni 分享 收藏
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death Li, Mindy H.; Abrudan, Jenica L.; Dulik, Matthew C.; Sasson, Ariella; Brunton, Joshua; Jayaraman, Vijayakumar; Dugan, Noreen; Haley, Danielle; Rajagopalan, Ramakrishnan; Biswas, Sawona; Sarmady, Mahdi; DeChene, Elizabeth T.; Deardorff, Matthew A.; Wilkens, Alisha; Noon, Sarah E.; Scarano, Maria I.; Santani, Avni B.; White, Peter S.; Pennington, Jeffrey; Conlin, Laura K.; Spinner, Nancy B.; Krantz, Ian D.; Vetter, Victoria L. 分享 收藏
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data 通过对单核苷酸多态性阵列和外显子组序列数据的综合分析，增加了先天性心脏病中从头拷贝数变异的频率 Glessner, Joseph T.; Bick, Alexander G.; Ito, Kaoru; Homsy, Jason G.; Rodriguez-Murillo, Laura; Fromer, Menachem; Mazaika, Erica; Vardarajan, Badri; Italia, Michael; Leipzig, Jeremy; DePalma, Steven R.; Golhar, Ryan; Sanders, Stephan J.; Yamrom, Boris; Ronemus, Michael; Iossifov, Ivan; Willsey, A. Jeremy; State, Matthew W.; Kaltman, Jonathan R.; White, Peter S.; Shen, Yufeng; Warburton, Dorothy; Brueckner, Martina; Seidman, Christine; Goldmuntz, Elizabeth; Gelb, Bruce D.; Lifton, Richard; Seidman, Jonathan; Hakonarson, Hakon; Chung, Wendy K. 分享 收藏
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record Tarczy-Hornoch, Peter; Amendola, Laura; Aronson, Samuel J.; Garraway, Levi; Gray, Stacy; Grundmeier, Robert W.; Hindorff, Lucia A.; Jarvik, Gail; Karavite, Dean; Lebo, Matthew; Plon, Sharon E.; Van Allen, Eliezer; Weck, Karen E.; White, Peter S.; Yang, Yaping 分享 收藏
The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen; Newburger, Jane; Breitbart, Roger; Colan, Steven; Geva, Judith; Monafo, Angela; Roberts, Amy; Stryker, Janice; Seidman, Christine; McDonough, Barbara; Seidman, Jonathan; Goldmuntz, Elizabeth; Edman, Sharon; Garbarini, Jennifer; Hakonarson, Hakon; Mercer-Rosa, Laura; Mitchell, Laura; Tusi, Jessica; White, Peter; Woyciechowski, Stacy; Chung, Wendy; Warburton, Dorothy; Awad, Danielle; Celia, Katrina; Etwaru, Davina; Sond, Jaswinder Kaur; Kline, Jennie; Korsin, Rosalind; Lanz, Alyssa; Marquez, Emma; Williams, Ismee; Wilpers, Abigail; Yee, Roslyn; Guevara, Denise; Julian, Ariel; Mac Neal, Meghan; Mintz, Cassie; Peter, Inga; Sachidanandam, Ravi; Seiden, Howard; Romano-Adesman, Angela; Gruber, Dorota; Stellato, Nancy; Brueckner, Martina; Lifton, Richard; Cross, Nancy; Deanfield, John; Giardini, Alessandro; Flack, Karen; Porter, George; Taillie, Eileen; Kim, Richard; Nhu Tran; Tennstedt, Sharon; Breitbart, Roger; Dandreo, Kimberly; Gallagher, Dianne; Lu, Minmin; Sleeper, Lynn; Berlin, Dorit; Beiswanger, Christine; Lifton, Richard; Seidman, Jonathan; Hakonarson, Hakon; White, Peter; Italia, Mike; Chung, Wendy; Seidman, Christine; Brooks, Maria; Olive, Michelle; Botkin, Jeffrey; Dupuis, Josee; Garg, Vidu; Watson, Mike; Bristow, James; Evans, Todd; Kendziorski, Christina; Mardis, Elaine; Murray, Jeffrey; Saltz, Joel; Wong, Hector 分享 收藏
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder Elia, Josephine; Glessner, Joseph T.; Wang, Kai; Takahashi, Nagahide; Shtir, Corina J.; Hadley, Dexter; Sleiman, Patrick M. A.; Zhang, Haitao; Kim, Cecilia E.; Robison, Reid; Lyon, Gholson J.; Flory, James H.; Bradfield, Jonathan P.; Imielinski, Marcin; Hou, Cuiping; Frackelton, Edward C.; Chiavacci, Rosetta M.; Sakurai, Takeshi; Rabin, Cara; Middleton, Frank A.; Thomas, Kelly A.; Garris, Maria; Mentch, Frank; Freitag, Christine M.; Steinhausen, Hans-Christoph; Todorov, Alexandre A.; Reif, Andreas; Rothenberger, Aribert; Franke, Barbara; Mick, Eric O.; Roeyers, Herbert; Buitelaar, Jan; Lesch, Klaus-Peter; Banaschewski, Tobias; Ebstein, Richard P.; Mulas, Fernando; Oades, Robert D.; Sergeant, Joseph; Sonuga-Barke, Edmund J. S.; Renner, Tobias J.; Romanos, Marcel; Romanos, Jasmin; Warnke, Andreas; Walitza, Susanne; Meyer, Jobst; Palmason, Haukur; Seitz, Christiane; Loo, Sandra K.; Smalley, Susan L.; Biederman, Joseph; Kent, Lindsey; Asherson, Philip; Anney, Richard J. L.; Gaynor, J. William; Shaw, Philip; Devoto, Marcella; White, Peter S.; Grant, Struan F. A.; Buxbaum, Joseph D.; Rapoport, Judith L.; Williams, Nigel M.; Nelson, Stanley F.; Faraone, Stephen V.; Hakonarson, Hakon 分享 收藏
Rare structural variation of synapse and neurotransmission genes in autism Gai, X.; Xie, H. M.; Perin, J. C.; Takahashi, N.; Murphy, K.; Wenocur, A. S.; D'arcy, M.; O'Hara, R. J.; Goldmuntz, E.; Grice, D. E.; Shaikh, T. H.; Hakonarson, H.; Buxbaum, J. D.; Elia, J.; White, P. S. 分享 收藏
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High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications Shaikh, Tamim H.; Gai, Xiaowu; Perin, Juan C.; Glessner, Joseph T.; Xie, Hongbo; Murphy, Kevin; O'Hara, Ryan; Casalunovo, Tracy; Conlin, Laura K.; D'Arcy, Monica; Frackelton, Edward C.; Geiger, Elizabeth A.; Haldeman-Englert, Chad; Imielinski, Marcin; Kim, Cecilia E.; Medne, Livija; Annaiah, Kiran; Bradfield, Jonathan P.; Dabaghyan, Elvira; Eckert, Andrew; Onyiah, Chioma C.; Ostapenko, Svetlana; Otieno, F. George; Santa, Erin; Shaner, Julie L.; Skraban, Robert; Smith, Ryan M.; Elia, Josephine; Goldmuntz, Elizabeth; Spinner, Nancy B.; Zackai, Elaine H.; Chiavacci, Rosetta M.; Grundmeier, Robert; Rappaport, Eric F.; Grant, Struan F. A.; White, Peter S.; Hakonarson, Hakon 分享 收藏
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes Elia, J.; Gai, X.; Xie, H. M.; Perin, J. C.; Geiger, E.; Glessner, J. T.; D'arcy, M.; deBerardinis, R.; Frackelton, E.; Kim, C.; Lantieri, F.; Muganga, B. M.; Wang, L.; Takeda, T.; Rappaport, E. F.; Grant, S. F. A.; Berrettini, W.; Devoto, M.; Shaikh, T. H.; Hakonarson, H.; White, P. S. 分享 收藏
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