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

Year Number of Results
2005 1
2006 1
2007 2
2008 3
2009 1
2011 2
2012 5
2013 7
2014 10
2015 5
2016 4
2017 4
2018 4
2019 5
2020 6
2021 5
2022 4
2023 4
2024 2

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62 results

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Page 1
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: bernier fp. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
The developmental-genetics of canalization.
Hallgrimsson B, Green RM, Katz DC, Fish JL, Bernier FP, Roseman CC, Young NM, Cheverud JM, Marcucio RS. Hallgrimsson B, et al. Among authors: bernier fp. Semin Cell Dev Biol. 2019 Apr;88:67-79. doi: 10.1016/j.semcdb.2018.05.019. Epub 2018 May 24. Semin Cell Dev Biol. 2019. PMID: 29782925 Free PMC article. Review.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: bernier fp. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Among authors: bernier fp. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review.
Currie GR, Gerber B, Lorenzetti D, MacDonald K, Benseler SM, Bernier FP, Boycott KM, Carias KV, Hamelin B, Hayeems RZ, LeBlanc C, Twilt M, van Rooijen G, Wong-Rieger D, Yeung RSM, Marshall DA. Currie GR, et al. Among authors: bernier fp. Pharmacoeconomics. 2023 Jul;41(7):803-818. doi: 10.1007/s40273-023-01262-x. Epub 2023 Apr 7. Pharmacoeconomics. 2023. PMID: 37029233 Review.
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: bernier fp. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
An interactive atlas of three-dimensional syndromic facial morphology.
Aponte JD, Bannister JJ, Hoskens H, Matthews H, Katsura K, Da Silva C, Cruz T, Pilz JHM, Spritz RA, Forkert ND, Claes P, Bernier FP, Klein OD, Katz DC, Hallgrímsson B. Aponte JD, et al. Among authors: bernier fp. Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011. Am J Hum Genet. 2024. PMID: 38181734 Free PMC article.
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis.
Bannister JJ, Wilms M, Aponte JD, Katz DC, Klein OD, Bernier FP, Spritz RA, Hallgrímsson B, Forkert ND. Bannister JJ, et al. Among authors: bernier fp. Eur J Hum Genet. 2023 Sep;31(9):1010-1016. doi: 10.1038/s41431-023-01308-w. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36750664 Free PMC article.
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM. Lamont RE, et al. Among authors: bernier fp. Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Eur J Hum Genet. 2016. PMID: 27004616 Free PMC article. Review.
62 results