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1946
2025

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

Year Number of Results
1946 1
1947 1
1948 1
1949 1
1950 2
1951 1
1952 2
1953 2
1954 2
1958 2
1959 4
1960 7
1961 5
1962 6
1963 3
1964 2
1965 2
1967 2
1968 3
1969 1
1970 4
1971 5
1972 11
1973 1
1974 4
1975 4
1976 2
1977 5
1978 8
1979 7
1980 3
1981 7
1982 8
1983 6
1984 8
1985 4
1986 12
1987 18
1988 22
1989 13
1990 24
1991 24
1992 17
1993 17
1994 25
1995 20
1996 35
1997 32
1998 24
1999 27
2000 27
2001 25
2002 29
2003 28
2004 23
2005 24
2006 23
2007 37
2008 24
2009 30
2010 39
2011 32
2012 40
2013 33
2014 25
2015 21
2016 30
2017 37
2018 16
2019 29
2020 31
2021 24
2022 28
2023 14
2024 9
2025 0

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1,055 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.
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.
Salinomycin kills cancer stem cells by sequestering iron in lysosomes.
Mai TT, Hamaï A, Hienzsch A, Cañeque T, Müller S, Wicinski J, Cabaud O, Leroy C, David A, Acevedo V, Ryo A, Ginestier C, Birnbaum D, Charafe-Jauffret E, Codogno P, Mehrpour M, Rodriguez R. Mai TT, et al. Among authors: birnbaum d. Nat Chem. 2017 Oct;9(10):1025-1033. doi: 10.1038/nchem.2778. Epub 2017 May 16. Nat Chem. 2017. PMID: 28937680 Free PMC 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.
Regarding data visualization.
Birnbaum D. Birnbaum D. Infect Control Hosp Epidemiol. 2021 Sep;42(9):1154-1155. doi: 10.1017/ice.2020.457. Epub 2020 Oct 2. Infect Control Hosp Epidemiol. 2021. PMID: 33004088 Free PMC article. No abstract available.
Myelodysplastic syndromes: lost between two states?
Acquaviva C, Gelsi-Boyer V, Birnbaum D. Acquaviva C, et al. Among authors: birnbaum d. Leukemia. 2010 Jan;24(1):1-5. doi: 10.1038/leu.2009.157. Leukemia. 2010. PMID: 20068572 No abstract available.
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.
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.
1,055 results