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The search results on this publication 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.
Gabriella Miller Kids First (14)
| Publication Title | Authors | Journal | Publication Date | Page No | PubMedID |
|---|---|---|---|---|---|
| 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. | 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 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. | 2019 Dec 17 | 31848685 | |
| Germline microsatellite genotypes differentiate children with medulloblastoma. | Rivero-Hinojosa, Samuel; Kinney, Nicholas; Garner, Harold R; Rood, Brian R | Neuro-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 J | American 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 9 | 31397880 | |
| 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; 17 | 31361404 | |
| 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. | 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 15 | 31211835 | |
| 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 17 | 31206972 | |
| 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. | 2019 Apr 08; | 30930166 | |
| 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. | 2018 Dec 10 | 30532227 | |
| 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 6 | 30471716 | |
| 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. | 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 1 | 30098192 |