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Year Number of Results
2001 2
2002 20
2003 22
2004 33
2005 27
2006 35
2007 66
2008 88
2009 94
2010 108
2011 135
2012 148
2013 183
2014 200
2015 227
2016 227
2017 256
2018 305
2019 382
2020 423
2021 428
2022 525
2023 501
2024 446
2025 1

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4,333 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: li d. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
Docherty AR, Mullins N, Ashley-Koch AE, Qin X, Coleman JRI, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos AI, DiBlasi E, Fullerton JM, Kranzler HR, Bakian AV, Monson ET, Rentería ME, Walss-Bass C, Andreassen OA, Behera C, Bulik CM, Edenberg HJ, Kessler RC, Mann JJ, Nurnberger JI Jr, Pistis G, Streit F, Ursano RJ, Polimanti R, Dennis M, Garrett M, Hair L, Harvey P, Hauser ER, Hauser MA, Huffman J, Jacobson D, Madduri R, McMahon B, Oslin DW, Trafton J, Awasthi S, Berrettini WH, Bohus M, Chang X, Chen HC, Chen WJ, Christensen ED, Crow S, Duriez P, Edwards AC, Fernández-Aranda F, Galfalvy H, Gandal M, Gorwood P, Guo Y, Hafferty JD, Hakonarson H, Halmi KA, Hishimoto A, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Kim M, Klump KL, Levey DF, Li D, Liao SC, Lieb K, Lilenfeld L, Marshall CR, Mitchell JE, Okazaki S, Otsuka I, Pinto D, Powers A, Ramoz N, Ripke S, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Starnawska A, Strober M, Su MH, Thornton LM, Treasure J, Ware EB, Watson HJ, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Alda M, Alfredsson L, Appadurai V, Artigas MS, Van der Auwera S, Azevedo … See abstract for full author list ➔ Docherty AR, et al. Among authors: li d. Am J Psychiatry. 2023 Oct 1;180(10):723-738. doi: 10.1176/appi.ajp.21121266. Am J Psychiatry. 2023. PMID: 37777856 Free PMC article.
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, Hafferty JD, Hishimoto A, Kim M, Okazaki S, Otsuka I, Ripke S, Ware EB, Bergen AW, Berrettini WH, Bohus M, Brandt H, Chang X, Chen WJ, Chen HC, Crawford S, Crow S, DiBlasi E, Duriez P, Fernández-Aranda F, Fichter MM, Gallinger S, Glatt SJ, Gorwood P, Guo Y, Hakonarson H, Halmi KA, Hwu HG, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Klump KL, Li D, Liao SC, Lieb K, Lilenfeld L, Liu CM, Magistretti PJ, Marshall CR, Mitchell JE, Monson ET, Myers RM, Pinto D, Powers A, Ramoz N, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Strober M, Thornton LM, Treasure J, Tsuang MT, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Air TM, Alda M, Alfredsson L, Andreassen OA, Anjorin A, Appadurai V, Soler Artigas M, Van der Auwera S, Azevedo MH, Bass N, Bau CHD, Baune BT, Bellivier F, Berger K, Biernacka JM, Bigdeli TB, Binder EB, Boehnke M, Boks MP, Bosch R, Braff DL, Bryant R, Budde M, Byrne EM, Cahn W, Casas M, Castelao E, Cervilla JA, Chaumette B, Cichon S, Cor… See abstract for full author list ➔ Mullins N, et al. Among authors: li d. Biol Psychiatry. 2022 Feb 1;91(3):313-327. doi: 10.1016/j.biopsych.2021.05.029. Epub 2021 Sep 9. Biol Psychiatry. 2022. PMID: 34861974 Free PMC article.
BATMAN-TCM 2.0: an enhanced integrative database for known and predicted interactions between traditional Chinese medicine ingredients and target proteins.
Kong X, Liu C, Zhang Z, Cheng M, Mei Z, Li X, Liu P, Diao L, Ma Y, Jiang P, Kong X, Nie S, Guo Y, Wang Z, Zhang X, Wang Y, Tang L, Guo S, Liu Z, Li D. Kong X, et al. Among authors: li d. Nucleic Acids Res. 2024 Jan 5;52(D1):D1110-D1120. doi: 10.1093/nar/gkad926. Nucleic Acids Res. 2024. PMID: 37904598 Free PMC article.
Exosomal miRNAs in autoimmune skin diseases.
Zhang R, Wei Y, Wang T, Nie X, Shi Z, Deng Y, Li D. Zhang R, et al. Among authors: li d. Front Immunol. 2023 Dec 1;14:1307455. doi: 10.3389/fimmu.2023.1307455. eCollection 2023. Front Immunol. 2023. PMID: 38106405 Free PMC article. Review.
The role of dermal fibroblasts in autoimmune skin diseases.
Shi Z, Liu Z, Wei Y, Zhang R, Deng Y, Li D. Shi Z, et al. Among authors: li d. Front Immunol. 2024 Mar 13;15:1379490. doi: 10.3389/fimmu.2024.1379490. eCollection 2024. Front Immunol. 2024. PMID: 38545113 Free PMC article. Review.
4,333 results