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

Year Number of Results
1915 1
1916 1
1927 1
1928 1
1930 1
1933 1
1936 1
1937 2
1938 3
1940 3
1941 1
1942 1
1944 1
1945 1
1946 3
1948 2
1949 1
1950 1
1951 2
1955 1
1956 2
1958 2
1959 1
1972 5
1973 6
1974 2
1975 2
1976 1
1977 3
1978 3
1980 1
1981 3
1982 2
1983 2
1986 1
1987 3
1988 2
1989 3
1990 4
1991 1
1992 5
1993 1
1994 4
1995 1
1996 2
1997 1
1998 1
1999 1
2005 1
2010 1
2013 1
2014 1
2015 3
2016 3
2017 6
2018 4
2019 5
2020 2
2021 2
2022 5
2023 9
2024 11
2025 12

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148 results

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Page 1
Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: lake nj. Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047. Epub 2024 Sep 25. Cell. 2024. PMID: 39326416 Free PMC article.
Quantifying constraint in the human mitochondrial genome.
Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M. Lake NJ, et al. Nature. 2024 Nov;635(8038):390-397. doi: 10.1038/s41586-024-08048-x. Epub 2024 Oct 16. Nature. 2024. PMID: 39415008 Free PMC article.
Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations.
Huang H, Wang Y, Zsengeller ZK, Gorham JM, Vemireddy V, Clark AJ, Pan H, Dreyfuss JM, Jotwani V, Shlipak MG, Sarnak MJ, Parikh CR, Thiessen-Philbrook H, Katz R, Waikar SS, Lake NJ, Lek M, Shi W, Puiu D, Hong YS, Seidman JG, Arking DE, Parikh SM. Huang H, et al. Among authors: lake nj. Science. 2025 Oct 9;390(6769):164-172. doi: 10.1126/science.adk7978. Epub 2025 Sep 4. Science. 2025. PMID: 40906782
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms.
Hong YS, Pasca S, Shi W, Puiu D, Lake NJ, Lek M, Ru M, Grove ML, Prizment A, Joshu CE, Platz EA, Guallar E, Arking DE, Gondek LP. Hong YS, et al. Among authors: lake nj. Nat Commun. 2024 Nov 22;15(1):10133. doi: 10.1038/s41467-024-54443-3. Nat Commun. 2024. PMID: 39578475 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: lake nj. Ann Neurol. 2025 Mar;97(3):561-570. doi: 10.1002/ana.27141. Epub 2025 Jan 3. Ann Neurol. 2025. PMID: 39749750 Free PMC article.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Roth… See abstract for full author list ➔ Asadollahi R, et al. Among authors: lake nj. Nat Genet. 2025 Nov;57(11):2691-2704. doi: 10.1038/s41588-025-02361-5. Epub 2025 Oct 22. Nat Genet. 2025. PMID: 41125872 Free PMC article.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: lake nj. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
A contextual genomic perspective on physical activity and its relationship to health, well being and illness.
Galimberti M, Levey DF, Deak JD, Adhikari K, Overstreet C, Gupta P, Nitin R, Zhou H, Lake NJ, Harrington KM, Djousse L, Davis LK; VA Million Veteran Program; Gaziano JM, Stein MB, Gelernter J. Galimberti M, et al. Among authors: lake nj. Nat Genet. 2025 Aug;57(8):1860-1871. doi: 10.1038/s41588-025-02260-9. Epub 2025 Jul 21. Nat Genet. 2025. PMID: 40691405 Free PMC article.
148 results