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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 1
2009 1
2010 3
2011 1
2013 1
2014 7
2015 15
2016 9
2017 10
2018 9
2019 10
2020 12
2021 12
2022 9
2023 12
2024 4

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102 results

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Page 1
Matchmaker Exchange.
Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium. Sobreira NLM, et al. Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50. Curr Protoc Hum Genet. 2017. PMID: 29044468 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Among authors: sobreira n. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Response to Biesecker et al.
Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Hamosh A, et al. Among authors: sobreira nl. Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004. Am J Hum Genet. 2021. PMID: 34478655 Free PMC article. No abstract available.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR, Martin R, Wohler E, Partan ES, Walek E, Salman S, Groepper D, Kratz L, Cernach M, Jesus-Garcia R, Haldeman-Englert C, Choi YJ, Morris CD, Cohen B, Hoover-Fong J, Valle D, Semenza GL, Sobreira NLM. Poll SR, et al. Among authors: sobreira nlm. PLoS Genet. 2022 Dec 8;18(12):e1010504. doi: 10.1371/journal.pgen.1010504. eCollection 2022 Dec. PLoS Genet. 2022. PMID: 36480544 Free PMC article.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: sobreira n. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Among authors: sobreira n. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N. Rodrigues EDS, et al. Among authors: sobreira n. Hum Mutat. 2022 Jun;43(6):782-790. doi: 10.1002/humu.24359. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35191117 Free PMC article.
The impact of GeneMatcher on international data sharing and collaboration.
Hamosh A, Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Doheny KF, Valle D, Sobreira N. Hamosh A, et al. Among authors: sobreira n. Hum Mutat. 2022 Jun;43(6):668-673. doi: 10.1002/humu.24350. Epub 2022 Mar 28. Hum Mutat. 2022. PMID: 35170833 Free PMC article.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: sobreira n. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
102 results