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Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket BS, Baldwin Z, Murali P, Pai A, Mittendorf KF, Russell HV, Chen F, Lynch FL, Lich KH, Hindorff LA, Savich R, Slavotinek A, Smith HS, Gelb BD, Veenstra DL. Ferket BS, et al. Among authors: gelb bd. Genet Med. 2022 Oct;24(10):2014-2027. doi: 10.1016/j.gim.2022.06.004. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833928 Free PMC article. Review.
Robust identification of mosaic variants in congenital heart disease.
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, Seidman JG, Gelb BD. Manheimer KB, et al. Among authors: gelb bd. Hum Genet. 2018 Feb;137(2):183-193. doi: 10.1007/s00439-018-1871-6. Epub 2018 Feb 7. Hum Genet. 2018. PMID: 29417219 Free PMC article.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM; ClinGen RASopathy Working Group. Gelb BD, et al. Genet Med. 2018 Nov;20(11):1334-1345. doi: 10.1038/gim.2018.3. Epub 2018 Mar 1. Genet Med. 2018. PMID: 29493581 Free PMC article.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. Amendola LM, et al. Among authors: gelb bd. Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007. Am J Hum Genet. 2018. PMID: 30193136 Free PMC article.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. Horowitz CR, et al. Among authors: gelb bd. Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104772 Free PMC article.
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Odgis JA, et al. Among authors: gelb bd. Trials. 2021 Jan 14;22(1):56. doi: 10.1186/s13063-020-04953-4. Trials. 2021. PMID: 33446240 Free PMC article.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Suckiel SA, Odgis JA, Gallagher KM, Rodriguez JE, Watnick D, Bertier G, Sebastin M, Yelton N, Maria E, Lopez J, Ramos M, Kelly N, Teitelman N, Beren F, Kaszemacher T, Davis K, Laguerre I, Richardson LD, Diaz GA, Pearson NM, Ellis SB, Stolte C, Robinson M, Kovatch P, Horowitz CR, Gelb BD, Greally JM, Bauman LJ, Zinberg RE, Abul-Husn NS, Wasserstein MP, Kenny EE. Suckiel SA, et al. Among authors: gelb bd. Genet Med. 2021 May;23(5):942-949. doi: 10.1038/s41436-020-01063-z. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531665 Free PMC article. Clinical Trial.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, Jobanputra V, Bloom T, Greally JM. Pearson NM, et al. Among authors: gelb bd. Genet Med. 2021 Oct;23(10):1998-2002. doi: 10.1038/s41436-021-01219-5. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113009 Free PMC article.
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).
Phillips KA, Trosman JR, Douglas MP, Gelb BD, Ferket BS, Hindorff LA, Slavotinek AM, Berg JS, Russell HV, Devine B, Greve V, Smith HS. Phillips KA, et al. Among authors: gelb bd. Genet Med. 2022 Jan;24(1):238-244. doi: 10.1016/j.gim.2021.08.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906461 Free PMC article.
322 results