Gabriella Miller Kids First Pediatric Research (Kids First)
Gabriella Miller Kids First Pediatric Research (Kids First)
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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 | 2024 Mar |
| A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. | Richter, Felix; Rutherford, Kayleigh D; Cooke, Anisha J; Meshkati, Malorie; Eddy-Abrams, Vanessa; Greene, Daniel; Kosowsky, Jordana; Park, Yeaji; Aggarwal, Surabhi; Burke, Rebecca J; Chang, Weili; Connors, Jillian; Giannone, Peter J; Hays, Thomas; Khattar, Divya; Polak, Mark; Senaldi, Liana; Smith-Raska, Matthew; Sridhar, Shanthy; Steiner, Laurie; Swanson, Jonathan R; Tauber, Kate A; Barbosa, Mafalda; Guttmann, Katherine F; Turro, Ernest | American journal of kidney diseases : the official journal of the National Kidney Foundation | 38211685 | 2024 Jun |
| Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. | Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias | Nature genetics | 39039281 | 2024 Aug |
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. | Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda Pg; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachery; Storz, Sophie Hr; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie, W Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin Jr, Richard N; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E | medRxiv : the preprint server for health sciences | 38496498 | 2024 Mar 07 |
| 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 |
| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. | Jensen, Tanner D; Ni, Bohan; Reuter, Chloe M; Gorzynski, John E; Fazal, Sarah; Bonner, Devon; Ungar, Rachel A; Goddard, Pagé C; Raja, Archana; Ashley, Euan A; Bernstein, Jonathan A; Zuchner, Stephan; Undiagnosed Diseases Network; Greicius, Michael D; Montgomery, Stephen B; Schatz, Michael C; Wheeler, Matthew T; Battle, Alexis | medRxiv : the preprint server for health sciences | 38585781 | 2024 Mar 26 |
| Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. | Greene, Daniel; Thys, Chantal; Berry, Ian R; Jarvis, Joanna; Ortibus, Els; Mumford, Andrew D; Freson, Kathleen; Turro, Ernest | Nature medicine | 38821540 | 2024 Aug |
| 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 |
| 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 |
| 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 |
| 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; |
| 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 |
| 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 |
| 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; |
| 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; |
| 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; |
| 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 |
| 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 |
| 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; |
| 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 |
| 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 |
| 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; |
| 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 Jan 11; |
| 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 |
| 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 |
| 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; |
| 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; |
| 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 |
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| 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 |
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| 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 |
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