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331 results

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Page 1
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J, Ney G, Frone MN, Haley JS, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl R, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR. Kim J, et al. Among authors: gelb bd. medRxiv [Preprint]. 2024 Oct 11:2024.10.09.24314324. doi: 10.1101/2024.10.09.24314324. medRxiv. 2024. PMID: 39802765 Free PMC article. Preprint.
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: gelb bd. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Ramos MA, Bonini KE, Scarimbolo L, Kelly NR, Insel B, Suckiel SA, Brown K, Di Biase M, Gallagher KM, Lopez J, Aguiñiga KL, Marathe PN, Maria E, Odgis JA, Rodriguez JE, Rodriguez MA, Ruiz N, Sebastin M, Yelton NM, Cunningham-Rundles C, Gertner M, Laguerre I, McDonald TV, McGoldrick PE, Robinson M, Rubinstein A, Shulman LH, Williams T, Wolf SM, Yozawitz EG, Zinberg RE, Abul-Husn NS, Bauman LJ, Diaz GA, Ferket BS, Greally JM, Jobanputra V, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR. Ramos MA, et al. Among authors: gelb bd. Am J Hum Genet. 2024 Dec 5;111(12):2607-2617. doi: 10.1016/j.ajhg.2024.10.015. Epub 2024 Nov 19. Am J Hum Genet. 2024. PMID: 39566494
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC. Smith HS, et al. Among authors: gelb bd. Am J Hum Genet. 2024 Oct 3;111(10):2094-2106. doi: 10.1016/j.ajhg.2024.08.011. Epub 2024 Sep 16. Am J Hum Genet. 2024. PMID: 39288765
Genome-wide association studies of Down syndrome associated congenital heart defects.
Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, Leslie EJ. Feldman ER, et al. Among authors: gelb bd. medRxiv [Preprint]. 2024 Sep 6:2024.09.06.24313183. doi: 10.1101/2024.09.06.24313183. medRxiv. 2024. PMID: 39281767 Free PMC article. Preprint.
Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.
Peterson JK, Clarke S, Gelb BD, Kasparian NA, Kazazian V, Pieciak K, Pike NA, Setty SP, Uveges MK, Rudd NA; American Heart Association Pediatric Cardiovascular Nursing Committee of the Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; and Council on Cardiovascular Radiology and Intervention. Peterson JK, et al. Among authors: gelb bd. J Am Heart Assoc. 2024 Oct;13(19):e036214. doi: 10.1161/JAHA.124.036214. Epub 2024 Sep 12. J Am Heart Assoc. 2024. PMID: 39263820 Free PMC article. Review.
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: gelb bd. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure.
Vandewouw MM, Norris-Brilliant A, Rahman A, Assimopoulos S, Morton SU, Kushki A, Cunningham S, King E, Goldmuntz E, Miller TA, Thomas NH, Adams HR, Cleveland J, Cnota JF, Ellen Grant P, Goldberg CS, Huang H, Li JS, McQuillen P, Porter GA, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Chung WK, Hagler DJ, Newburger JW, Panigrahy A, Lerch JP, Gelb BD, Anagnostou E. Vandewouw MM, et al. Among authors: gelb bd. Neuroimage. 2024 Aug 15;297:120721. doi: 10.1016/j.neuroimage.2024.120721. Epub 2024 Jul 4. Neuroimage. 2024. PMID: 38968977 Free article.
331 results