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 | Author | Journal Name | PubMedID | Journal Abbreviation | Publication Date |
|---|---|---|---|---|---|
| A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma. | Zhong Y, Schubert J, Wu J, Xu F, Lin F, Cao K, Zelley K, Luo M, Foster JB, Cole KA, MacFarland SP, Resnick AC, Storm PB, Li MM | Cold Spring Harbor molecular case studies | 32554798 | Cold Spring Harb Mol Case Stud | 2020 Aug |
| Germline microsatellite genotypes differentiate children with medulloblastoma. | Rivero-Hinojosa S, Kinney N, Garner HR, Rood BR | Neuro-oncology | 31562520 | Neuro Oncol | 2020 Jan 11 |
| Ten lessons for data sharing with a data commons. | Grossman RL | Scientific data | 36878917 | Sci Data | 2023 Mar 6 |
| Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. | Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, Köhler S, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, Robinson PN, Haendel MA | Database : the journal of biological databases and curation | 31735951 | Database (Oxford) | 2019 Jan 1 |
| annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions. | Gaonkar KS, Marini F, Rathi KS, Jain P, Zhu Y, Chimicles NA, Brown MA, Naqvi AS, Zhang B, Storm PB, Maris JM, Raman P, Resnick AC, Strauch K, Taroni JN, Rokita JL | BMC bioinformatics | 33317447 | BMC Bioinformatics | 2020 Dec 14 |
| Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis. | Tetikol HS, Turgut D, Narci K, Budak G, Kalay O, Arslan E, Demirkaya-Budak S, Dolgoborodov A, Kabakci-Zorlu D, Semenyuk V, Jain A, Davis-Dusenbery BN | Nature communications | 35927245 | Nat Commun | 2022 Aug 4 |
| Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations. | Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM, Ludwig KU | HGG advances | 36589413 | HGG Adv | 2023 Jan 12 |
| OpenPBTA: The Open Pediatric Brain Tumor Atlas. | Shapiro JA, Gaonkar KS, Spielman SJ, Savonen CL, Bethell CJ, Jin R, Rathi KS, Zhu Y, Egolf LE, Farrow BK, Miller DP, Yang Y, Koganti T, Noureen N, Koptyra MP, Duong N, Santi M, Kim J, Robins S, Storm PB, Mack SC, Lilly JV, Xie HM, Jain P, Raman P, Rood BR, Lulla RR, Nazarian J, Kraya AA, Vaksman Z, Heath AP, Kline C, Scolaro L, Viaene AN, Huang X, Way GP, Foltz SM, Zhang B, Poetsch AR, Mueller S, Ennis BM, Prados M, Diskin SJ, Zheng S, Guo Y, Kannan S, Waanders AJ, Margol AS, Kim MC, Hanson D, Van Kuren N, Wong J, Kaufman RS, Coleman N, Blackden C, Cole KA, Mason JL, Madsen PJ, Koschmann CJ, Stewart DR, Wafula E, Brown MA, Resnick AC, Greene CS, Rokita JL, Taroni JN, Children’s Brain Tumor Network, Pacific Pediatric Neuro-Oncology Consortium | Cell genomics | 37492101 | Cell Genom | 2023 Jul 12 |
| Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios. | Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ | American journal of human genetics | 32574564 | Am J Hum Genet | 2020 Jul 2 |
| Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. | Egolf LE, Vaksman Z, Lopez G, Rokita JL, Modi A, Basta PV, Hakonarson H, Olshan AF, Diskin SJ | American journal of human genetics | 31474320 | Am J Hum Genet | 2019 Sep 5 |
| Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma. | Zhong Y, Lin F, Xu F, Schubert J, Wu J, Wainwright L, Zhao X, Cao K, Fan Z, Chen J, Lang SS, Kennedy BC, Viaene AN, Santi M, Resnick AC, Storm PB, Li MM | Cancer genetics | 33341678 | Cancer Genet | 2021 Apr |
| NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome. | Zhao X, Kotch C, Fox E, Surrey LF, Wertheim GB, Baloch ZW, Lin F, Pillai V, Luo M, Kreiger PA, Pogoriler JE, Linn RL, Russo PA, Santi M, Resnick AC, Storm PB, Hunger SP, Bauer AJ, Li MM | JCO precision oncology | 34036219 | JCO Precis Oncol | 2021 |
| The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. | Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS | Developmental cell | 30930166 | Dev Cell | 2019 Apr 8 |
| Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy. | Panditharatna E, Kilburn LB, Aboian MS, Kambhampati M, Gordish-Dressman H, Magge SN, Gupta N, Myseros JS, Hwang EI, Kline C, Crawford JR, Warren KE, Cha S, Liang WS, Berens ME, Packer RJ, Resnick AC, Prados M, Mueller S, Nazarian J | Clinical cancer research : an official journal of the American Association for Cancer Research | 30322880 | Clin Cancer Res | 2018 Dec 1 |
| Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas. | Przystal JM, Cianciolo Cosentino C, Yadavilli S, Zhang J, Laternser S, Bonner ER, Prasad R, Dawood AA, Lobeto N, Chin Chong W, Biery MC, Myers C, Olson JM, Panditharatna E, Kritzer B, Mourabit S, Vitanza NA, Filbin MG, de Iuliis GN, Dun MD, Koschmann C, Cain JE, Grotzer MA, Waszak SM, Mueller S, Nazarian J | Neuro-oncology | 35157764 | Neuro Oncol | 2022 Sep 1 |
| Cancer Informatics for Cancer Centers: Scientific Drivers for Informatics, Data Science, and Care in Pediatric, Adolescent, and Young Adult Cancer. | Kerlavage AR, Kirchhoff AC, Guidry Auvil JM, Sharpless NE, Davis KL, Reilly K, Reaman G, Penberthy L, Deapen D, Hwang A, Durbin EB, Gallotto SL, Aplenc R, Volchenboum SL, Heath AP, Aronow BJ, Zhang J, Vaske O, Alonzo TA, Nathan PC, Poynter JN, Armstrong G, Hahn EE, Wernli KJ, Greene C, DiGiovanna J, Resnick AC, Shalley ER, Nadaf S, Kibbe WA | JCO clinical cancer informatics | 34428097 | JCO Clin Cancer Inform | 2021 Aug |
| Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. | Petralia F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji J, Calinawan A, Whiteaker JR, Colaprico A, Stathias V, Omelchenko T, Song X, Raman P, Guo Y, Brown MA, Ivey RG, Szpyt J, Guha Thakurta S, Gritsenko MA, Weitz KK, Lopez G, Kalayci S, Gümüş ZH, Yoo S, da Veiga Leprevost F, Chang HY, Krug K, Katsnelson L, Wang Y, Kennedy JJ, Voytovich UJ, Zhao L, Gaonkar KS, Ennis BM, Zhang B, Baubet V, Tauhid L, Lilly JV, Mason JL, Farrow B, Young N, Leary S, Moon J, Petyuk VA, Nazarian J, Adappa ND, Palmer JN, Lober RM, Rivero-Hinojosa S, Wang LB, Wang JM, Broberg M, Chu RK, Moore RJ, Monroe ME, Zhao R, Smith RD, Zhu J, Robles AI, Mesri M, Boja E, Hiltke T, Rodriguez H, Zhang B, Schadt EE, Mani DR, Ding L, Iavarone A, Wiznerowicz M, Schürer S, Chen XS, Heath AP, Rokita JL, Nesvizhskii AI, Fenyö D, Rodland KD, Liu T, Gygi SP, Paulovich AG, Resnick AC, Storm PB, Rood BR, Wang P, Children’s Brain Tumor Network, Clinical Proteomic Tumor Analysis Consortium | Cell | 33242424 | Cell | 2020 Dec 23 |
| 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 LM, 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 | Hum Genet | 2020 Feb |
| The Biomedical Research Hub: a federated platform for patient research data. | Barnes C, Bajracharya B, Cannalte M, Gowani Z, Haley W, Kass-Hout T, Hernandez K, Ingram M, Juvvala HP, Kuffel G, Martinov P, Maxwell JM, McCann J, Malhotra A, Metoki-Shlubsky N, Meyer C, Paredes A, Qureshi J, Ritter X, Schumm P, Shao M, Sheth U, Simmons T, VanTol A, Zhang Z, Grossman RL | Journal of the American Medical Informatics Association : JAMIA | 35289369 | J Am Med Inform Assoc | 2022 Mar 15 |
| Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting. | Diaz Perez KK, Curtis SW, Sanchis-Juan A, Zhao X, Head T, Ho S, Carter B, McHenry T, Bishop MR, Valencia-Ramirez LC, Restrepo C, Hecht JT, Uribe LM, Wehby G, Weinberg SM, Beaty TH, Murray JC, Feingold E, Marazita ML, Cutler DJ, Epstein MP, Brand H, Leslie EJ | Genetics in medicine : official journal of the American College of Medical Genetics | 37330696 | Genet Med | 2023 Oct |
| Towards self-describing and FAIR bulk formats for biomedical data. | Lukowski M, Prokhorenkov A, Grossman RL | PLoS computational biology | 36913405 | PLoS Comput Biol | 2023 Mar |
| AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification. | Kim J, Naqvi AS, Corbett RJ, Kaufman RS, Vaksman Z, Brown MA, Miller DP, Phul S, Geng Z, Storm PB, Resnick AC, Stewart DR, Rokita JL, Diskin SJ | bioRxiv : the preprint server for biology | 38076939 | bioRxiv | 2023 Dec 1 |
| Data Lakes, Clouds, and Commons: A Review of Platforms for Analyzing and Sharing Genomic Data. | Grossman RL | Trends in genetics : TIG | 30691868 | Trends Genet | 2019 Mar |
| Personas for the translational workforce. | Gonzales S, O'Keefe L, Gutzman K, Viger G, Wescott AB, Farrow B, Heath AP, Kim MC, Taylor D, Champieux R, Yen PY, Holmes K | Journal of clinical and translational science | 33244408 | J Clin Transl Sci | 2020 Jan 10 |
| 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 (New York, N.Y.) | 36335802 | Neoplasia | 2023 Jan |
| The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. | Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C, Genomics Research and Innovation Network | Genetics in medicine : official journal of the American College of Medical Genetics | 31481752 | Genet Med | 2020 Feb |
| Genomic analyses implicate noncoding de novo variants in congenital heart disease. | Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD | Nature genetics | 32601476 | Nat Genet | 2020 Aug |
| ORE identifies extreme expression effects enriched for rare variants. | Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD | Bioinformatics (Oxford, England) | 30903145 | Bioinformatics | 2019 Oct 15 |
| Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing. | Seiden AH, Richter F, Patel N, Rodriguez OL, Deikus G, Shah H, Smith M, Roberts A, King EC, Sebra RP, Sharp AJ, Gelb BD | Human mutation | 31898844 | Hum Mutat | 2020 Apr |
| Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. | Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F, Undiagnosed Diseases Network, Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ | Nature communications | 39256359 | Nat Commun | 2024 Sep 10 |
| Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. | Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Choukair D, Bettendorf M, Spielmann M, Ripke A, Pauly M, Münchau A, Lohmann K, Hüning I, Hanker B, Bäumer T, Herzog R, Hellenbroich Y, Westphal DS, Strom T, Kovacs R, Riedhammer KM, Mayerhanser K, Graf E, Brugger M, Hoefele J, Oexle K, Mirza-Schreiber N, Berutti R, Schatz U, Krenn M, Makowski C, Weigand H, Schröder S, Rohlfs M, Vill K, Hauck F, Borggraefe I, Müller-Felber W, Kurth I, Elbracht M, Knopp C, Begemann M, Kraft F, Lemke JR, Hentschel J, Platzer K, Strehlow V, Abou Jamra R, Kehrer M, Demidov G, Beck-Wödl S, Graessner H, Sturm M, Zeltner L, Schöls LJ, Magg J, Bevot A, Kehrer C, Kaiser N, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz PM, Haack T, Ehmke N, Wagner M | Nature genetics | 39039281 | Nat Genet | 2024 Aug |
| A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. | Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E | American journal of kidney diseases : the official journal of the National Kidney Foundation | 38211685 | Am J Kidney Dis | 2024 Jun |
| Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. | Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E | Nature medicine | 38821540 | Nat Med | 2024 Aug |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Greene D, Genomics England Research Consortium, Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E | Nature medicine | 36928819 | Nat Med | 2023 Mar |
| The Human Phenotype Ontology in 2024: phenotypes around the world. | Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN | Nucleic acids research | 37953324 | Nucleic Acids Res | 2024 Jan 5 |
| Children's Oncology Group's 2023 blueprint for research: Epidemiology. | Lupo PJ, Marcotte EL, Scheurer ME, Poynter JN, Spector LG, COG Epidemiology Committee | Pediatric blood & cancer | 37449937 | Pediatr Blood Cancer | 2023 Sep |
| Role of non-chromosomal birth defects on the risk of developing childhood Hodgkin lymphoma: A Children's Oncology Group study. | Peckham-Gregory EC, Boff LM, Schraw JM, Spector LG, Linabery AM, Erhardt EB, Ribeiro KB, Allen CE, Scheurer ME, Lupo PJ | Pediatric blood & cancer | 38146016 | Pediatr Blood Cancer | 2024 Mar |
| 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 PJ, Chambers TM, Mueller BA, Clavel J, Dockerty JD, Doody DR, Erdmann F, Ezzat S, Filippini T, Hansen J, Heck JE, Infante-Rivard C, Kang AY, Magnani C, Malagoli C, Marcotte EL, Metayer C, Bailey HD, Mora AM, Ntzani E, Petridou ET, Pombo-de-Oliveira MS, Rashed WM, Roman E, Schüz J, Wesseling C, Spector LG, Scheurer ME | International journal of cancer | 37694915 | Int J Cancer | 2024 Feb 1 |
| Associations between birth defects with neural crest cell origins and pediatric embryonal tumors. | Wong EC, Lupo PJ, Desrosiers TA, Nichols HB, Smith SM, Poole C, Canfield M, Shumate C, Chambers TM, Schraw JM, Nembhard WN, Yazdy MM, Nestoridi E, Janitz AE, Olshan AF | Cancer | 37432072 | Cancer | 2023 Nov 15 |
| Identification of USP9X as a leukemia susceptibility gene. | Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Salvi S, Doddapaneni H, Muzny D, Mitchell D, Taylor O, Sabo A, Lupo PJ, Plon SE | Blood advances | 37289514 | Blood Adv | 2023 Aug 22 |
| Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing. | Kovaka S, Ou S, Jenike KM, Schatz MC | Nature methods | 36635537 | Nat Methods | 2023 Jan |
| High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. | Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson ZB, Storz SHR, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E, 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 WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE | Genome research | 39358015 | Genome Res | 2024 Nov 20 |
| Jasmine and Iris: population-scale structural variant comparison and analysis. | Kirsche M, Prabhu G, Sherman R, Ni B, Battle A, Aganezov S, Schatz MC | Nature methods | 36658279 | Nat Methods | 2023 Mar |
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