Gabriella Miller Kids First (39)
Publication TitleAuthorsJournalPublication DatePage NoPubMedID
Towards self-describing and FAIR bulk formats for biomedical data.Lukowski, Michael; Prokhorenkov, Andrew; Grossman, Robert LPLoS computational biology2023 Mare101094436913405
Jasmine and Iris: population-scale structural variant comparison and analysis.Kirsche, Melanie; Prabhu, Gautam; Sherman, Rachel; Ni, Bohan; Battle, Alexis; Aganezov, Sergey; Schatz, Michael CNature methods2023 Mar408-41736658279
Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing.Kovaka, Sam; Ou, Shujun; Jenike, Katharine M; Schatz, Michael CNature methods2023 Jan12-1636635537
The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open scienceLilly 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.Neoplasia2022 November36335802
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 NNature communications2022 Aug 0435927245
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart diseaseSarah J Spendlove, Leroy Bondhus, Gentian Lluri, Jae Hoon Sul, Valerie A ArboledaHGG Adv2022 July 1435599848
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 LJournal of the American Medical Informatics Association : JAMIA2022 03 1535289369
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypesNandita 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 MarazitaGenet Epidemiol2022 April35191549
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, JavadNeuro-oncology2022 Sep 0135157764
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 AJCO clinical cancer informatics2021 0834428097
Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastomaBao 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 Cancer2021 Jul 1634272305
Informatics Methods and Infrastructure Needed to Study Factors Associated with High Incidence of Pediatric Brain and Central Nervous System Tumors in KentuckyEric B Durbin, W Jay Christian, Isaac Hands, Mateusz P Koptyra, Jong Cheol Jong, Tom C BadgettJ Registry Manag .2020 Fall34128919
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 MJCO precision oncology202134036219
A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth DefectsMiller, Dustin B, Piccolo, Stephen RFront Genetics2021 Mar 2233828584
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 MCancer genetics2021 0433341678
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 LynneBMC bioinformatics2020 Dec 1433317447
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic herniasBogenschutz 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 GabrielleHuman Genetics and Genomics Advances2020 October 2233263113
Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain CancerPetralia, 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;;Cell33242424
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomesQiao, 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 KGenetics in Medicine2020 July 2832719394
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 Genetics2020 Jun 2932601476
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft TriosBishop, 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 JAmerican journal of human genetics.2020 July 232574564
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 MCold Spring Harbor molecular case studies.2020 08;32554798
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 DHuman mutation.2020 Apr;31898844
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21Mukhopadhyay 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.2019 Dec 1731848685
Germline microsatellite genotypes differentiate children with medulloblastoma.Rivero-Hinojosa, Samuel; Kinney, Nicholas; Garner, Harold R; Rood, Brian RNeuro-oncology.2020 Jan 11;31562520
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 JAmerican journal of human genetics.2019 Sep 05;31474320
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.2019 Aug 931397880
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.2019 Oct; 1731361404
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 MThe Journal of molecular diagnostics : JMD.2019 Sep;31255796
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.2019 Sept 1531211835
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.2019 Jun 1731206972
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 SDevelopmental cell.2019 Apr 08;30930166
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 DBioinformatics (Oxford, England).2019 10 15;30903145
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersQi 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 YufengPLoS genetics.2018 Dec 1030532227
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.2018 Dec 630471716
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, JavadClinical cancer research : an official journal of the American Association for Cancer Research.2018 Oct 15;30322880
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.2018 Aug 130098192
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 19q13Leslie, 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 LHum Mol Genet2016 Jul 127033726
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 LAm J Hum Genet2016 Apr 727018472