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

Year Number of Results
1992 2
1995 1
1996 1
2000 3
2002 2
2003 3
2004 5
2005 4
2006 2
2007 6
2008 6
2009 4
2010 6
2011 3
2012 8
2013 5
2014 6
2015 4
2016 4
2017 7
2018 4
2019 9
2020 7
2021 9
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99 results
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Page 1
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Among authors: epstein mp. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J; International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS. Cleynen I, et al. Among authors: epstein mp. Mol Psychiatry. 2020 Feb 3:10.1038/s41380-020-0654-3. doi: 10.1038/s41380-020-0654-3. Online ahead of print. Mol Psychiatry. 2020. PMID: 32015465 Free PMC article.
Developmental Outcomes in Duarte Galactosemia.
Carlock G, Fischer ST, Lynch ME, Potter NL, Coles CD, Epstein MP, Mulle JG, Kable JA, Barrett CE, Edwards SM, Wilson E, Fridovich-Keil JL. Carlock G, et al. Among authors: epstein mp. Pediatrics. 2019 Jan;143(1):e20182516. doi: 10.1542/peds.2018-2516. Pediatrics. 2019. PMID: 30593450 Free article.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ. Bishop MR, et al. Among authors: epstein mp. Am J Hum Genet. 2020 Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. Am J Hum Genet. 2020. PMID: 32574564 Free PMC article.
Leveraging Family History in Case-Control Analyses of Rare Variation.
Solis-Lemus CR, Fischer ST, Todor A, Liu C, Leslie EJ, Cutler DJ, Ghosh D, Epstein MP. Solis-Lemus CR, et al. Among authors: epstein mp. Genetics. 2020 Feb;214(2):295-303. doi: 10.1534/genetics.119.302846. Epub 2019 Dec 16. Genetics. 2020. PMID: 31843756 Free PMC article.
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Kim H, Lim J, Bao H, Jiao B, Canon SM, Epstein MP, Xu K, Jiang J, Parameswaran J, Li Y, Moberg KH, Landers JE, Fournier C, Allen EG, Glass JD, Wingo TS, Jin P. Kim H, et al. Among authors: epstein mp. Hum Mol Genet. 2019 Jul 15;28(14):2309-2318. doi: 10.1093/hmg/ddz063. Hum Mol Genet. 2019. PMID: 30985904 Free PMC article.
Gastrointestinal Health in Classic Galactosemia.
Shaw KA, Mulle JG, Epstein MP, Fridovich-Keil JL. Shaw KA, et al. Among authors: epstein mp. JIMD Rep. 2017;33:27-32. doi: 10.1007/8904_2016_575. Epub 2016 Jul 1. JIMD Rep. 2017. PMID: 27363831 Free PMC article.
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