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

Year Number of Results
2006 1
2009 2
2010 3
2011 1
2012 3
2013 2
2014 2
2015 3
2016 2
2017 1
2018 3
2019 7
2020 8
2021 9
2022 9
2023 8
2024 5

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60 results

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Page 1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Crouzier L, Danese A, Yasui Y, Richard EM, Liévens JC, Patergnani S, Couly S, Diez C, Denus M, Cubedo N, Rossel M, Thiry M, Su TP, Pinton P, Maurice T, Delprat B. Crouzier L, et al. Among authors: richard em. Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. Sci Transl Med. 2022. PMID: 35138910 Free PMC article.
Stem cell decoupling underlies impaired lymphoid development during aging.
Jang G, Contreras Castillo S, Esteva E, Upadhaya S, Feng J, Adams NM, Richard E, Awatramani R, Sawai CM, Reizis B. Jang G, et al. Among authors: richard e. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2302019120. doi: 10.1073/pnas.2302019120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216517 Free PMC article.
Comparative Analysis and Isoform-Specific Therapeutic Vulnerabilities of KRAS Mutations in Non-Small Cell Lung Cancer.
Ricciuti B, Son J, Okoro JJ, Mira A, Patrucco E, Eum Y, Wang X, Paranal R, Wang H, Lin M, Haikala HM, Li J, Xu Y, Alessi JV, Chhoeu C, Redig AJ, Köhler J, Dholakia KH, Chen Y, Richard E, Nokin MJ, Santamaria D, Gokhale PC, Awad MM, Jänne PA, Ambrogio C. Ricciuti B, et al. Among authors: richard e. Clin Cancer Res. 2022 Apr 14;28(8):1640-1650. doi: 10.1158/1078-0432.CCR-21-2719. Clin Cancer Res. 2022. PMID: 35091439 Free PMC article.
Antitumor Effects of PRMT5 Inhibition in Sarcomas.
Verbeke S, Bourdon A, Guegan JP, Leroy L, Chaire V, Richard E, Bessede A, Italiano A. Verbeke S, et al. Among authors: richard e. Cancer Res Commun. 2023 Nov 2;3(11):2211-2220. doi: 10.1158/2767-9764.CRC-23-0239. Cancer Res Commun. 2023. PMID: 37861293 Free PMC article.
Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.
Crouzier L, Richard EM, Sourbron J, Lagae L, Maurice T, Delprat B. Crouzier L, et al. Among authors: richard em. Int J Mol Sci. 2021 Dec 12;22(24):13356. doi: 10.3390/ijms222413356. Int J Mol Sci. 2021. PMID: 34948153 Free PMC article. Review.
60 results