Program Publications
Program Publications
Get Program Updates
Publications Search by Program
Search Results
The publications on this page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.
| Title | Authors | Journal | PubMedID | Publication Date |
|---|---|---|---|---|
| Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations. | Zieger, Hanna K; Weinhold, Leonie; Schmidt, Axel; Holtgrewe, Manuel; Juranek, Stefan A; Siewert, Anna; Scheer, Annika B; Thieme, Frederic; Mangold, Elisabeth; Ishorst, Nina; Brand, Fabian U; Welzenbach, Julia; Beule, Dieter; Paeschke, Katrin; Krawitz, Peter M; Ludwig, Kerstin U | HGG advances | 36589413 | 2023 Jan 12 |
| Ten lessons for data sharing with a data commons. | Grossman, Robert L | Scientific data | 36878917 | 2023 Mar 06 |
| Towards self-describing and FAIR bulk formats for biomedical data. | Lukowski, Michael; Prokhorenkov, Andrew; Grossman, Robert L | PLoS computational biology | 36913405 | 2023 Mar |
| Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing. | Kovaka, Sam; Ou, Shujun; Jenike, Katharine M; Schatz, Michael C | Nature methods | 36635537 | 2023 Jan |
| Jasmine and Iris: population-scale structural variant comparison and analysis. | Kirsche, Melanie; Prabhu, Gautam; Sherman, Rachel; Ni, Bohan; Battle, Alexis; Aganezov, Sergey; Schatz, Michael C | Nature methods | 36658279 | 2023 Mar |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Greene, Daniel; Genomics England Research Consortium; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud P J; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire L S; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L; Morisaki, Hiroko; Ahmed, Zubair M; Birdsey, Graeme M; Freson, Kathleen; Mumford, Andrew; Turro, Ernest | Nature medicine | 36928819 | 2023 Mar |
| The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science. | Lilly, Jena V; Rokita, Jo Lynne; Mason, Jennifer L; Patton, Tatiana; Stefankiewiz, Stephanie; Higgins, David; Trooskin, Gerri; Larouci, Carina A; Arya, Kamnaa; Appert, Elizabeth; Heath, Allison P; Zhu, Yuankun; Brown, Miguel A; Zhang, Bo; Farrow, Bailey K; Robins, Shannon; Morgan, Allison M; Nguyen, Thinh Q; Frenkel, Elizabeth; Lehmann, Kaitlin; Drake, Emily; Sullivan, Catherine; Plisiewicz, Alexa; Coleman, Noel; Patterson, Luke; Koptyra, Mateusz; Helili, Zeinab; Van Kuren, Nicholas; Young, Nathan; Kim, Meen Chul; Friedman, Christopher; Lubneuski, Alex; Blackden, Christopher; Williams, Marti; Baubet, Valerie; Tauhid, Lamiya; Galanaugh, Jamie; Boucher, Katie; Ijaz, Heba; Cole, Kristina A; Choudhari, Namrata; Santi, Mariarita; Moulder, Robert W; Waller, Jonathan; Rife, Whitney; Diskin, Sharon J; Mateos, Marion; Parsons, Donald W; Pollack, Ian F; Goldman, Stewart; Leary, Sarah; Caporalini, Chiara; Buccoliero, Anna Maria; Scagnet, Mirko; Haussler, David; Hanson, Derek; Firestein, Ron; Cain, Jason; Phillips, Joanna J; Gupta, Nalin; Mueller, Sabine; Grant, Gerald; Monje-Deisseroth, Michelle; Partap, Sonia; Greenfield, Jeffrey P; Hashizume, Rintaro; Smith, Amy; Zhu, Shida; Johnston, James M; Fangusaro, Jason R; Miller, Matthew; Wood, Matthew D; Gardner, Sharon; Carter, Claire L; Prolo, Laura M; Pisapia, Jared; Pehlivan, Katherine; Franson, Andrea; Niazi, Toba; Rubin, Josh; Abdelbaki, Mohamed; Ziegler, David S; Lindsay, Holly B; Stucklin, Ana Guerreiro; Gerber, Nicolas; Vaske, Olena M; Quinsey, Carolyn; Rood, Brian R; Nazarian, Javad; Raabe, Eric; Jackson, Eric M; Stapleton, Stacie; Lober, Robert M; Kram, David E; Koschmann, Carl; Storm, Phillip B; Lulla, Rishi R; Prados, Michael; Resnick, Adam C; Waanders, Angela J | Neoplasia (New York, N.Y.) | 36335802 | 2023 Jan |
| Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis. | Tetikol, H Serhat; Turgut, Deniz; Narci, Kubra; Budak, Gungor; Kalay, Ozem; Arslan, Elif; Demirkaya-Budak, Sinem; Dolgoborodov, Alexey; Kabakci-Zorlu, Duygu; Semenyuk, Vladimir; Jain, Amit; Davis-Dusenbery, Brandi N | Nature communications | 35927245 | 2022 Aug 04 |
| The Biomedical Research Hub: a federated platform for patient research data. | Barnes, Craig; Bajracharya, Binam; Cannalte, Matthew; Gowani, Zakir; Haley, Will; Kass-Hout, Taha; Hernandez, Kyle; Ingram, Michael; Juvvala, Hara Prasad; Kuffel, Gina; Martinov, Plamen; Maxwell, J Montgomery; McCann, John; Malhotra, Ankit; Metoki-Shlubsky, Noah; Meyer, Chris; Paredes, Andre; Qureshi, Jawad; Ritter, Xenia; Schumm, Philip; Shao, Mingfei; Sheth, Urvi; Simmons, Trevar; VanTol, Alexander; Zhang, Zhenyu; Grossman, Robert L | Journal of the American Medical Informatics Association : JAMIA | 35289369 | 2022 Mar 15 |
| Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma. | Zhong, Yiming; Lin, Fumin; Xu, Feng; Schubert, Jeff; Wu, Jinhua; Wainwright, Luanne; Zhao, Xiaonan; Cao, Kajia; Fan, Zhiqian; Chen, Jiani; Lang, Shih-Shan; Kennedy, Benjamin C; Viaene, Angela N; Santi, Mariarita; Resnick, Adam C; Storm, Phillip B; Li, Marilyn M | Cancer genetics | 33341678 | 2021 04 |
| NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome. | Zhao, Xiaonan; Kotch, Chelsea; Fox, Elizabeth; Surrey, Lea F; Wertheim, Gerald B; Baloch, Zubair W; Lin, Fumin; Pillai, Vinodh; Luo, Minjie; Kreiger, Portia A; Pogoriler, Jennifer E; Linn, Rebecca L; Russo, Pierre A; Santi, Mariarita; Resnick, Adam C; Storm, Phillip B; Hunger, Stephen P; Bauer, Andrew J; Li, Marilyn M | JCO precision oncology | 34036219 | 2021 |
| Cancer Informatics for Cancer Centers: Scientific Drivers for Informatics, Data Science, and Care in Pediatric, Adolescent, and Young Adult Cancer. | Kerlavage, Anthony R; Kirchhoff, Anne C; Guidry Auvil, Jaime M; Sharpless, Norman E; Davis, Kara L; Reilly, Karlyne; Reaman, Gregory; Penberthy, Lynne; Deapen, Dennis; Hwang, Amie; Durbin, Eric B; Gallotto, Sara L; Aplenc, Richard; Volchenboum, Samuel L; Heath, Allison P; Aronow, Bruce J; Zhang, Jinghui; Vaske, Olena; Alonzo, Todd A; Nathan, Paul C; Poynter, Jenny N; Armstrong, Greg; Hahn, Erin E; Wernli, Karen J; Greene, Casey; DiGiovanna, Jack; Resnick, Adam C; Shalley, Eve R; Nadaf, Sorena; Kibbe, Warren A | JCO clinical cancer informatics | 34428097 | 2021 08 |
| 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; Genomics Research and Innovation Network | Genetics in medicine : official journal of the American College of Medical Genetics | 31481752 | 2020 Feb |
| Germline microsatellite genotypes differentiate children with medulloblastoma. | Rivero-Hinojosa, Samuel; Kinney, Nicholas; Garner, Harold R; Rood, Brian R | Neuro-oncology | 31562520 | 2020 01 11 |
| Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios. | Bishop, Madison R; Diaz Perez, Kimberly K; Sun, Miranda; Ho, Samantha; Chopra, Pankaj; Mukhopadhyay, Nandita; Hetmanski, Jacqueline B; Taub, Margaret A; Moreno-Uribe, Lina M; Valencia-Ramirez, Luz Consuelo; Restrepo Muñeton, Claudia P; Wehby, George; Hecht, Jacqueline T; Deleyiannis, Frederic; Weinberg, Seth M; Wu-Chou, Yah Huei; Chen, Philip K; Brand, Harrison; Epstein, Michael P; Ruczinski, Ingo; Murray, Jeffrey C; Beaty, Terri H; Feingold, Eleanor; Lipinski, Robert J; Cutler, David J; Marazita, Mary L; Leslie, Elizabeth J | American journal of human genetics | 32574564 | 2020 Jul 02 |
| Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing. | Seiden, Allison H; Richter, Felix; Patel, Nihir; Rodriguez, Oscar L; Deikus, Gintaras; Shah, Hardik; Smith, Melissa; Roberts, Amy; King, Eileen C; Sebra, Robert P; Sharp, Andrew J; Gelb, Bruce D | Human mutation | 31898844 | 2020 04 |
| Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. | Petralia, Francesca; Tignor, Nicole; Reva, Boris; Koptyra, Mateusz; Chowdhury, Shrabanti; Rykunov, Dmitry; Krek, Azra; Ma, Weiping; Zhu, Yuankun; Ji, Jiayi; Calinawan, Anna; Whiteaker, Jeffrey R; Colaprico, Antonio; Stathias, Vasileios; Omelchenko, Tatiana; Song, Xiaoyu; Raman, Pichai; Guo, Yiran; Brown, Miguel A; Ivey, Richard G; Szpyt, John; Guha Thakurta, Sanjukta; Gritsenko, Marina A; Weitz, Karl K; Lopez, Gonzalo; Kalayci, Selim; Gümüş, Zeynep H; Yoo, Seungyeul; da Veiga Leprevost, Felipe; Chang, Hui-Yin; Krug, Karsten; Katsnelson, Lizabeth; Wang, Ying; Kennedy, Jacob J; Voytovich, Uliana J; Zhao, Lei; Gaonkar, Krutika S; Ennis, Brian M; Zhang, Bo; Baubet, Valerie; Tauhid, Lamiya; Lilly, Jena V; Mason, Jennifer L; Farrow, Bailey; Young, Nathan; Leary, Sarah; Moon, Jamie; Petyuk, Vladislav A; Nazarian, Javad; Adappa, Nithin D; Palmer, James N; Lober, Robert M; Rivero-Hinojosa, Samuel; Wang, Liang-Bo; Wang, Joshua M; Broberg, Matilda; Chu, Rosalie K; Moore, Ronald J; Monroe, Matthew E; Zhao, Rui; Smith, Richard D; Zhu, Jun; Robles, Ana I; Mesri, Mehdi; Boja, Emily; Hiltke, Tara; Rodriguez, Henry; Zhang, Bing; Schadt, Eric E; Mani, D R; Ding, Li; Iavarone, Antonio; Wiznerowicz, Maciej; Schürer, Stephan; Chen, Xi S; Heath, Allison P; Rokita, Jo Lynne; Nesvizhskii, Alexey I; Fenyö, David; Rodland, Karin D; Liu, Tao; Gygi, Steven P; Paulovich, Amanda G; Resnick, Adam C; Storm, Phillip B; Rood, Brian R; Wang, Pei; Children’s Brain Tumor Network; Clinical Proteomic Tumor Analysis Consortium | Cell | 33242424 | 2020 Dec 23 |
| Personas for the translational workforce. | Gonzales, Sara; O'Keefe, Lisa; Gutzman, Karen; Viger, Guillaume; Wescott, Annie B; Farrow, Bailey; Heath, Allison P; Kim, Meen Chul; Taylor, Deanne; Champieux, Robin; Yen, Po-Yin; Holmes, Kristi | Journal of clinical and translational science | 33244408 | 2020 Jan 10 |
| Genomic analyses implicate noncoding de novo variants in congenital heart disease. | Richter, Felix; Morton, Sarah U; Kim, Seong Won; Kitaygorodsky, Alexander; Wasson, Lauren K; Chen, Kathleen M; Zhou, Jian; Qi, Hongjian; Patel, Nihir; DePalma, Steven R; Parfenov, Michael; Homsy, Jason; Gorham, Joshua M; Manheimer, Kathryn B; Velinder, Matthew; Farrell, Andrew; Marth, Gabor; Schadt, Eric E; Kaltman, Jonathan R; Newburger, Jane W; Giardini, Alessandro; Goldmuntz, Elizabeth; Brueckner, Martina; Kim, Richard; Porter Jr, George A; Bernstein, Daniel; Chung, Wendy K; Srivastava, Deepak; Tristani-Firouzi, Martin; Troyanskaya, Olga G; Dickel, Diane E; Shen, Yufeng; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D | Nature genetics | 32601476 | 2020 08 |
| A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma. | Zhong, Yiming; Schubert, Jeffrey; Wu, Jinhua; Xu, Feng; Lin, Fumin; Cao, Kajia; Zelley, Kristin; Luo, Minjie; Foster, Jessica B; Cole, Kristina A; MacFarland, Suzanne P; Resnick, Adam C; Storm, Phillip B; Li, Marilyn M | Cold Spring Harbor molecular case studies | 32554798 | 2020 08 |
| annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions. | Gaonkar, Krutika S; Marini, Federico; Rathi, Komal S; Jain, Payal; Zhu, Yuankun; Chimicles, Nicholas A; Brown, Miguel A; Naqvi, Ammar S; Zhang, Bo; Storm, Phillip B; Maris, John M; Raman, Pichai; Resnick, Adam C; Strauch, Konstantin; Taroni, Jaclyn N; Rokita, Jo Lynne | BMC bioinformatics | 33317447 | 2020 Dec 14 |
| Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. | Egolf, Laura E; Vaksman, Zalman; Lopez, Gonzalo; Rokita, Jo Lynne; Modi, Apexa; Basta, Patricia V; Hakonarson, Hakon; Olshan, Andrew F; Diskin, Sharon J | American journal of human genetics | 31474320 | 2019 09 05 |
| 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; Bönnemann, Carsten G; Mandl, Kenneth D; White, Peter S | Developmental cell | 30930166 | 2019 Apr 08 |
| ORE identifies extreme expression effects enriched for rare variants. | Richter, F; Hoffman, G E; Manheimer, K B; Patel, N; Sharp, A J; McKean, D; Morton, S U; DePalma, S; Gorham, J; Kitaygorodksy, A; Porter, G A; Giardini, A; Shen, Y; Chung, W K; Seidman, J G; Seidman, C E; Schadt, E E; Gelb, B D | Bioinformatics (Oxford, England) | 30903145 | 2019 10 15 |
| Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy. | Panditharatna, Eshini; Kilburn, Lindsay B; Aboian, Mariam S; Kambhampati, Madhuri; Gordish-Dressman, Heather; Magge, Suresh N; Gupta, Nalin; Myseros, John S; Hwang, Eugene I; Kline, Cassie; Crawford, John R; Warren, Katherine E; Cha, Soonmee; Liang, Winnie S; Berens, Michael E; Packer, Roger J; Resnick, Adam C; Prados, Michael; Mueller, Sabine; Nazarian, Javad | Clinical cancer research : an official journal of the American Association for Cancer Research | 30322880 | 2018 12 01 |
