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

Year Number of Results
2009 2
2010 4
2011 5
2014 1
2015 2
2016 1
2018 1
2019 3
2020 11
2021 8
2022 5
2023 11
2024 2

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46 results

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Page 1
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: wohler e. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
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: wohler e. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524
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: wohler e. 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: wohler e. 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.
Familial Aggregation in Idiopathic Subglottic Stenosis.
Drake VE, Gelbard A, Sobriera N, Wohler E, Berry LL, Hussain LL, Hillel A. Drake VE, et al. Among authors: wohler e. Otolaryngol Head Neck Surg. 2020 Nov;163(5):1011-1017. doi: 10.1177/0194599820935402. Epub 2020 Jun 30. Otolaryngol Head Neck Surg. 2020. PMID: 32600122 Free PMC article.
Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis.
Rohlfing ML, Hillel AT, Wohler E, Sobreira N, Phillips EJ, Mallal SA, Gelbard A. Rohlfing ML, et al. Among authors: wohler e. Laryngoscope. 2023 Oct;133(10):2533-2539. doi: 10.1002/lary.30580. Epub 2023 Feb 2. Laryngoscope. 2023. PMID: 36728247
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: wohler e. 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.
Mapping Genetic Susceptibility to Stenosis in the Proximal Airway.
Sharif K, Tierney WS, Davis RJ, Wohler E, Sobreira N, Hillel AT, Collins S, Ramirez-Solano M, Sheng Q, Gelbard A. Sharif K, et al. Among authors: wohler e. Laryngoscope. 2023 Nov;133(11):3049-3056. doi: 10.1002/lary.30718. Epub 2023 Apr 27. Laryngoscope. 2023. PMID: 37102306
46 results