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

Year Number of Results
2001 1
2002 17
2003 19
2004 16
2005 14
2006 9
2007 19
2008 15
2009 22
2010 24
2011 20
2012 25
2013 18
2014 15
2015 11
2016 23
2017 26
2018 12
2019 24
2020 16
2021 15
2022 19
2023 5
2024 1

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353 results

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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: birnbaum dp. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium; Neale BM, Daly MJ, MacArthur DG. Karczewski KJ, et al. Among authors: birnbaum dp. Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Nature. 2020. PMID: 32461654 Free PMC article.
Overcoming Resistance to Anti-Nectin-4 Antibody-Drug Conjugate.
Cabaud O, Berger L, Crompot E, Adélaide J, Finetti P, Garnier S, Guille A, Carbuccia N, Farina A, Agavnian E, Chaffanet M, Gonçalves A, Charafe-Jauffret E, Mamessier E, Birnbaum D, Bertucci F, Lopez M. Cabaud O, et al. Among authors: birnbaum d. Mol Cancer Ther. 2022 Jul 5;21(7):1227-1235. doi: 10.1158/1535-7163.MCT-22-0013. Mol Cancer Ther. 2022. PMID: 35534238
Genomic characterization of metastatic breast cancers.
Bertucci F, Ng CKY, Patsouris A, Droin N, Piscuoglio S, Carbuccia N, Soria JC, Dien AT, Adnani Y, Kamal M, Garnier S, Meurice G, Jimenez M, Dogan S, Verret B, Chaffanet M, Bachelot T, Campone M, Lefeuvre C, Bonnefoi H, Dalenc F, Jacquet A, De Filippo MR, Babbar N, Birnbaum D, Filleron T, Le Tourneau C, André F. Bertucci F, et al. Among authors: birnbaum d. Nature. 2019 May;569(7757):560-564. doi: 10.1038/s41586-019-1056-z. Epub 2019 May 22. Nature. 2019. PMID: 31118521
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, Briaux A, Bourdon V, Rémy V, Gaildrat P, Adélaïde J, Birnbaum D, Lidereau R, Sobol H, Olschwang S. Lagarde A, et al. Among authors: birnbaum d. J Med Genet. 2010 Oct;47(10):721-2. doi: 10.1136/jmg.2010.078964. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685668 Free article.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: birnbaum d. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Erythroleukemia: Classification.
Cervera N, Guille A, Adélaïde J, Hospital MA, Garciaz S, Mozziconacci MJ, Vey N, Gelsi-Boyer V, Birnbaum D. Cervera N, et al. Among authors: birnbaum d. EJHaem. 2023 Mar 17;4(2):450-453. doi: 10.1002/jha2.676. eCollection 2023 May. EJHaem. 2023. PMID: 37206278 Free PMC article.
"Wnt/β-Catenin in GIST"-Letter.
Bertucci F, Finetti P, De Nonneville A, Birnbaum D. Bertucci F, et al. Among authors: birnbaum d. Mol Cancer Ther. 2018 Jan;17(1):327-328. doi: 10.1158/1535-7163.MCT-17-0948. Mol Cancer Ther. 2018. PMID: 29295963
Charles Bonnet Syndrome and Other Hallucinatory Phenomena.
Boller F, Birnbaum DS, Caputi N. Boller F, et al. Among authors: birnbaum ds. Front Neurol Neurosci. 2018;41:117-124. doi: 10.1159/000475702. Epub 2017 Nov 16. Front Neurol Neurosci. 2018. PMID: 29145190 Review.
Endometriosis-associated ovarian carcinomas.
Birnbaum DJ, Birnbaum D, Bertucci F. Birnbaum DJ, et al. Among authors: birnbaum d. N Engl J Med. 2011 Feb 3;364(5):483-4; author reply 484-5. doi: 10.1056/NEJMc1012780. N Engl J Med. 2011. PMID: 21288104 No abstract available.
353 results