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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
Role of non-chromosomal birth defects on the risk of developing childhood Hodgkin lymphoma: A Children's Oncology Group study. Peckham-Gregory, Erin C; Boff, Lucas Maschietto; Schraw, Jeremy M; Spector, Logan G; Linabery, Amy M; Erhardt, Erik B; Ribeiro, Karina B; Allen, Carl E; Scheurer, Michael E; Lupo, Philip J Pediatric blood & cancer 38146016 2023 Dec 25
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification. Kim, Jung; Naqvi, Ammar S; Corbett, Ryan J; Kaufman, Rebecca S; Vaksman, Zalman; Brown, Miguel A; Miller, Daniel P; Phul, Saksham; Geng, Zhuangzhuang; Storm, Phillip B; Resnick, Adam C; Stewart, Douglas R; Rokita, Jo Lynne; Diskin, Sharon J bioRxiv : the preprint server for biology 38076939 2023 Dec 01
The Human Phenotype Ontology in 2024: phenotypes around the world. Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger Jr, John I; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N Nucleic acids research 37953324 2024 Jan 05
Nonchromosomal birth defects and risk of childhood acute leukemia: An assessment in 15 000 leukemia cases and 46 000 controls from the Childhood Cancer and Leukemia International Consortium. Lupo, Philip J; Chambers, Tiffany M; Mueller, Beth A; Clavel, Jacqueline; Dockerty, John D; Doody, David R; Erdmann, Friederike; Ezzat, Sameera; Filippini, Tommaso; Hansen, Johnni; Heck, Julia E; Infante-Rivard, Claire; Kang, Alice Y; Magnani, Corrado; Malagoli, Carlotta; Marcotte, Erin L; Metayer, Catherine; Bailey, Helen D; Mora, Ana M; Ntzani, Evangelia; Petridou, Eleni Th; Pombo-de-Oliveira, Maria S; Rashed, Wafaa M; Roman, Eve; Schüz, Joachim; Wesseling, Catharina; Spector, Logan G; Scheurer, Michael E International journal of cancer 37694915 2024 Feb 01
Children's Oncology Group's 2023 blueprint for research: Epidemiology. Lupo, Philip J; Marcotte, Erin L; Scheurer, Michael E; Poynter, Jenny N; Spector, Logan G; COG Epidemiology Committee Pediatric blood & cancer 37449937 2023 Sep
Associations between birth defects with neural crest cell origins and pediatric embryonal tumors. Wong, Eugene C; Lupo, Philip J; Desrosiers, Tania A; Nichols, Hazel B; Smith, Susan M; Poole, Charles; Canfield, Mark; Shumate, Charles; Chambers, Tiffany M; Schraw, Jeremy M; Nembhard, Wendy N; Yazdy, Mahsa M; Nestoridi, Eirini; Janitz, Amanda E; Olshan, Andrew F Cancer 37432072 2023 Nov 15
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting. Diaz Perez, Kimberly K; Curtis, Sarah W; Sanchis-Juan, Alba; Zhao, Xuefang; Head, Taylor; Ho, Samantha; Carter, Bridget; McHenry, Toby; Bishop, Madison R; Valencia-Ramirez, Luz C; Restrepo, Claudia; Hecht, Jacqueline T; Uribe, Lina M; Wehby, George; Weinberg, Seth M; Beaty, Terri H; Murray, Jeffrey C; Feingold, Eleanor; Marazita, Mary L; Cutler, David J; Epstein, Michael P; Brand, Harrison; Leslie, Elizabeth J Genetics in medicine : official journal of the American College of Medical Genetics 37330696 2023 Oct
Identification of USP9X as a leukemia susceptibility gene. Sisoudiya, Saumya Dushyant; Mishra, Pamela; Li, He; Schraw, Jeremy M; Scheurer, Michael E; Salvi, Sejal; Doddapaneni, Harsha; Muzny, Donna; Mitchell, Danielle; Taylor, Olga; Sabo, Aniko; Lupo, Philip J; Plon, Sharon E Blood advances 37289514 2023 Aug 22
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
Towards self-describing and FAIR bulk formats for biomedical data. Lukowski, Michael; Prokhorenkov, Andrew; Grossman, Robert L PLoS computational biology 36913405 2023 Mar
Ten lessons for data sharing with a data commons. Grossman, Robert L Scientific data 36878917 2023 Mar 06
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
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
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
The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science Lilly JV, Rokita JL, Mason JL, Patton T, Stefankiewiz S, Higgins D, Trooskin G, Larouci CA, Arya K, Appert E, Heath AP, Zhu Y, Brown MA, Zhang B, Farrow BK, Robins S, Morgan AM, Nguyen TQ, Frenkel E, Lehmann K, Drake E, Sullivan C, Plisiewicz A, Coleman N, Patterson L, Koptyra M, Helili Z, Van Kuren N, Young N, Kim MC, Friedman C, Lubneuski A, Blackden C, Williams M, Baubet V, Tauhid L, Galanaugh J, Boucher K, Ijaz H, Cole KA, Choudhari N, Santi M, Moulder RW, Waller J, Rife W, Diskin SJ, Mateos M, Parsons DW, Pollack IF, Goldman S, Leary S, Caporalini C, Buccoliero AM, Scagnet M, Haussler D, Hanson D, Firestein R, Cain J, Phillips JJ, Gupta N, Mueller S, Grant G, Monje-Deisseroth M, Partap S, Greenfield JP, Hashizume R, Smith A, Zhu S, Johnston JM, Fangusaro JR, Miller M, Wood MD, Gardner S, Carter CL, Prolo LM, Pisapia J, Pehlivan K, Franson A, Niazi T, Rubin J, Abdelbaki M, Ziegler DS, Lindsay HB, Stucklin AG, Gerber N, Vaske OM, Quinsey C, Rood BR, Nazarian J, Raabe E, Jackson EM, Stapleton S, Lober RM, Kram DE, Koschmann C, Storm PB, Lulla RR, Prados M, Resnick AC, Waanders AJ. Neoplasia 36335802 2022 November
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
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease Sarah J Spendlove, Leroy Bondhus, Gentian Lluri, Jae Hoon Sul, Valerie A Arboleda HGG Adv 35599848 2022 July 14
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 03 15
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes Nandita Mukhopadhya, Eleanor Feingold, Lina Moreno-Uribe, George Wehby, Luz Consuelo Valencia-Ramirez, Claudia P Restrepo Muñeton, Carmencita Padilla, Frederic Deleyiannis, Kaare Christensen, Fernando A Poletta, Ieda M Orioli, Jacqueline T Hecht, Carmen J Buxó, Azeez Butali, Wasiu L Adeyemo, Alexandre R Vieira, John R Shaffer, Jeffrey C Murray, Seth M Weinberg, Elizabeth J Leslie, Mary L Marazita Genet Epidemiol 35191549 2022 April
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas. Przystal, Justyna M; Cianciolo Cosentino, Chiara; Yadavilli, Sridevi; Zhang, Jie; Laternser, Sandra; Bonner, Erin R; Prasad, Rachna; Dawood, Adam A; Lobeto, Nina; Chin Chong, Wai; Biery, Matt C; Myers, Carrie; Olson, James M; Panditharatna, Eshini; Kritzer, Bettina; Mourabit, Sulayman; Vitanza, Nicholas A; Filbin, Mariella G; de Iuliis, Geoffry N; Dun, Matthew D; Koschmann, Carl; Cain, Jason E; Grotzer, Michael A; Waszak, Sebastian M; Mueller, Sabine; Nazarian, Javad Neuro-oncology 35157764 2022 Sep 01
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
Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma Bao Riyue, Spranger Stefani, Hernandez Kyle, Zha Yuanyuan, Pytel Peter, Luke Jason J., Gajewski Thomas F, Volchenboum Samuel L., Cohn Susan L., Desai Ami V. J Immunother Cancer 34272305 2021 Jul 16
Informatics Methods and Infrastructure Needed to Study Factors Associated with High Incidence of Pediatric Brain and Central Nervous System Tumors in Kentucky Eric B Durbin, W Jay Christian, Isaac Hands, Mateusz P Koptyra, Jong Cheol Jong, Tom C Badgett J Registry Manag . 34128919 2020 Fall
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
A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects Miller, Dustin B, Piccolo, Stephen R Front Genetics 33828584 2021 Mar 22
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
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
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias Bogenschutz Eric L, Fox Zac D, Farrell Andrew, Wynn Julia, Moore Barry, Yu Lan, Aspelund Gudrun, Marth Gabor, Yandell Mark, Shen Yufeng, Chung Wendy K, Kardon Gabrielle Human Genetics and Genomics Advances 33263113 2020 October 22
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
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;; Cell 33242424 NULL
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes Qiao, Lu; Wynn, Julia; Yu, Lan; Hernan, Rebecca; Zhou, Xueya; Duron, Vincent; Aspelund, Gudrun; Farkouh-Karoleski, Christiana; Zygumunt, Annette; Krishnan, Usha S; Nees, Shannon; Khlevner, Julie; Lim, Foong Yen; Crombleholme, Timothy; Cusick, Robert; Azarow, Kenneth; Danko, Melissa Ellen; Chung, Dai; Warner, Brad W; Mychaliska, George B; Potoka, Douglas; Wagner, Amy J; Soffer, Samuel; Schindel, David; McCulley, David J; Shen, Yufeng; Chung, Wendy K Genetics in Medicine 32719394 2020 July 28
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, 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 Jun 29
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 July 2
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;
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 Apr;
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21 Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno L, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML. Human genetics. 31848685 2019 Dec 17
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. Gourdine, Jean-Philippe F; Brush, Matthew H; Vasilevsky, Nicole A; Shefchek, Kent; Köhler, Sebastian; Matentzoglu, Nicolas; Munoz-Torres, Monica C; McMurry, Julie A; Zhang, Xingmin Aaron; Robinson, Peter N; Haendel, Melissa A Database : the journal of biological databases and curation 31735951 2019 Jan 01
Germline microsatellite genotypes differentiate children with medulloblastoma. Rivero-Hinojosa, Samuel; Kinney, Nicholas; Garner, Harold R; Rood, Brian R Neuro-oncology. 31562520 2020 Jan 11;
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 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 Sep 05;
MAGEL2-Related Disorders: A study and case series. Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross LA, Amudhavalli SM, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Marr B, Cherrick I, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle EC, Hess J, Lebel RR. Clinical genetics. 31397880 2019 Aug 9
Phenotype delineation of ZNF462 related syndrome. Kruszka P,Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. American journal of medical genetics. Part A. 31361404 2019 Oct; 17
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers. Chang, Fengqi; Lin, Fumin; Cao, Kajia; Surrey, Lea F; Aplenc, Richard; Bagatell, Rochelle; Resnick, Adam C; Santi, Mariarita; Storm, Phillip B; Tasian, Sarah K; Waanders, Angela J; Hunger, Stephen P; Li, Marilyn M The Journal of molecular diagnostics : JMD. 31255796 2019 Sep;
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan W-M, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC. Human molecular genetics. 31211835 2019 Sept 15
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordab U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, The DDD Study, Fernandez-Jaen A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.* Human mutation. 31206972 2019 Jun 17
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;
Data Lakes, Clouds, and Commons: A Review of Platforms for Analyzing and Sharing Genomic Data. Grossman, Robert L Trends in genetics : TIG. 30691868 2019 Mar;
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders Qi Hongjian, Yu Lan, Zhoul X Xueya, Wynn Julia, Zhao Haoquan, Guo Yicheng, Zhu Na, Kitaygorodsky Alexander, Hernan Rebecca, Aspelund Gudrun, Lim Foong-Yen, Crombleholme Timothy,Cusick Robert, Azarow Kenneth, Danko Melissa E., Chung Dai, Warner Brad W.,Mychaliska George B., Potoka Douglas, WagnerAmy J., ElFiky Mahmoud, Wilson Jay M, Nickerson Debbie, Bamshad Michael, High Frances A., Longoni Mauro,Donahoe Patricia K. ,Chung Wendy K., Shen Yufeng PLoS genetics. 30532227 2018 Dec 10
MACF1 mutations encoding highly conserved zinc-binding residues of the GAR domain cause defects in neuronal migration and axon guidance. Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler M, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS. American journal of human genetics. 30471716 2018 Dec 6
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 Oct 15;
Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect. Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GD, Chan W-M, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Strabismus Genetics Consortium, Hunter DG, Mackey DA, Engle EC. Investigative ophthalmology & visual science. 30098192 2018 Aug 1
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13 Leslie, Elizabeth J;Carlson, Jenna C;Shaffer, John R;Feingold, Eleanor;Wehby, George;Laurie, Cecelia A;Jain, Deepti;Laurie, Cathy C;Doheny, Kimberly F;McHenry, Toby;Resick, Judith;Sanchez, Carla;Jacobs, Jennifer;Emanuele, Beth;Vieira, Alexandre R;Neiswanger, Katherine;Lidral, Andrew C;Valencia-Ramirez, Luz Consuelo;Lopez-Palacio, Ana Maria;Valencia, Dora Rivera;Arcos-Burgos, Mauricio;Czeizel, Andrew E;Field, L Leigh;Padilla, Carmencita D;Cutiongco-de la Paz, Eva Maria C;Deleyiannis, Frederic;Christensen, Kaare;Munger, Ronald G;Lie, Rolv T;Wilcox, Allen;Romitti, Paul A;Castilla, Eduardo E;Mereb, Juan C;Poletta, Fernando A;Orioli, Iêda M;Carvalho, Flavia M;Hecht, Jacqueline T;Blanton, Susan H;Buxó, Carmen J;Butali, Azeez;Mossey, Peter A;Adeyemo, Wasiu L;James, Olutayo;Braimah, Ramat O;Aregbesola, Babatunde S;Eshete, Mekonen A;Abate, Fikre;Koruyucu, Mine;Seymen, Figen;Ma, Lian;de Salamanca, Javier Enríquez;Weinberg, Seth M;Moreno, Lina;Murray, Jeffrey C;Marazita, Mary L Hum Mol Genet 27033726 2016 Jul 1
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Leslie, Elizabeth J;Liu, Huan;Carlson, Jenna C;Shaffer, John R;Feingold, Eleanor;Wehby, George;Laurie, Cecelia A;Jain, Deepti;Laurie, Cathy C;Doheny, Kimberly F;McHenry, Toby;Resick, Judith;Sanchez, Carla;Jacobs, Jennifer;Emanuele, Beth;Vieira, Alexandre R;Neiswanger, Katherine;Standley, Jennifer;Czeizel, Andrew E;Deleyiannis, Frederic;Christensen, Kaare;Munger, Ronald G;Lie, Rolv T;Wilcox, Allen;Romitti, Paul A;Field, L Leigh;Padilla, Carmencita D;Cutiongco-de la Paz, Eva Maria C;Lidral, Andrew C;Valencia-Ramirez, Luz Consuelo;Lopez-Palacio, Ana Maria;Valencia, Dora Rivera;Arcos-Burgos, Mauricio;Castilla, Eduardo E;Mereb, Juan C;Poletta, Fernando A;Orioli, Iêda M;Carvalho, Flavia M;Hecht, Jacqueline T;Blanton, Susan H;Buxó, Carmen J;Butali, Azeez;Mossey, Peter A;Adeyemo, Wasiu L;James, Olutayo;Braimah, Ramat O;Aregbesola, Babatunde S;Eshete, Mekonen A;Deribew, Milliard;Koruyucu, Mine;Seymen, Figen;Ma, Lian;de Salamanca, Javier Enríquez;Weinberg, Seth M;Moreno, Lina;Cornell, Robert A;Murray, Jeffrey C;Marazita, Mary L Am J Hum Genet 27018472 2016 Apr 7

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