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Year Number of Results
1985 1
1992 1
1993 7
1994 2
1996 1
1997 2
1999 5
2000 3
2001 1
2002 1
2003 7
2004 4
2005 5
2006 8
2007 5
2008 7
2009 5
2010 10
2011 15
2012 9
2013 13
2014 9
2015 16
2016 22
2017 24
2018 29
2019 27
2020 40
2021 42
2022 19
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295 results
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Characterizing genetic variants for clinical action.
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Ramos EM, et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13. Am J Med Genet C Semin Med Genet. 2014. PMID: 24634402 Free PMC article.
As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability …
As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for c …
Molecular mechanisms of telomere biology disorders.
Grill S, Nandakumar J. Grill S, et al. J Biol Chem. 2021 Jan-Jun;296:100064. doi: 10.1074/jbc.REV120.014017. Epub 2020 Nov 22. J Biol Chem. 2021. PMID: 33482595 Free PMC article. Review.
Genetic mutations that affect telomerase function or telomere maintenance result in a variety of diseases collectively called telomeropathies. ...Through this, we emphasize recent advances in therapeutics and pinpoint disease-associated variants that remain poorly d
Genetic mutations that affect telomerase function or telomere maintenance result in a variety of diseases collectively called telomer
The multi-factorial nature of clinical multidrug resistance in cancer.
Assaraf YG, Brozovic A, Gonçalves AC, Jurkovicova D, Linē A, Machuqueiro M, Saponara S, Sarmento-Ribeiro AB, Xavier CPR, Vasconcelos MH. Assaraf YG, et al. Drug Resist Updat. 2019 Sep;46:100645. doi: 10.1016/j.drup.2019.100645. Epub 2019 Sep 17. Drug Resist Updat. 2019. PMID: 31585396 Review.
Curative cancer therapy remains a major challenge particularly in cancers displaying multidrug resistance (MDR). The MDR phenotype is characterized by cross-resistance to a wide array of anticancer drugs harboring distinct structures and mechanisms of action. …
Curative cancer therapy remains a major challenge particularly in cancers displaying multidrug resistance (MDR). The MDR phenotype is …
Insights into the genetic architecture of the human face.
White JD, Indencleef K, Naqvi S, Eller RJ, Hoskens H, Roosenboom J, Lee MK, Li J, Mohammed J, Richmond S, Quillen EE, Norton HL, Feingold E, Swigut T, Marazita ML, Peeters H, Hens G, Shaffer JR, Wysocka J, Walsh S, Weinberg SM, Shriver MD, Claes P. White JD, et al. Nat Genet. 2021 Jan;53(1):45-53. doi: 10.1038/s41588-020-00741-7. Epub 2020 Dec 7. Nat Genet. 2021. PMID: 33288918 Free PMC article.
The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 a …
The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a mult …
Shared genetic etiology between idiopathic pulmonary fibrosis and COVID-19 severity.
Fadista J, Kraven LM, Karjalainen J, Andrews SJ, Geller F; COVID-19 Host Genetics Initiative, Baillie JK, Wain LV, Jenkins RG, Feenstra B. Fadista J, et al. EBioMedicine. 2021 Mar;65:103277. doi: 10.1016/j.ebiom.2021.103277. Epub 2021 Mar 10. EBioMedicine. 2021. PMID: 33714028 Free PMC article.
This study aimed to determine the genetic correlation between IPF and severe COVID-19 and assess a potential causal role of genetically increased risk of IPF on COVID-19 severity. ...We performed a Mendelian randomization (MR) study for IPF causality in COVID-19. …
This study aimed to determine the genetic correlation between IPF and severe COVID-19 and assess a potential causal role of geneti
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Porto G, et al. Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153218 Free PMC article.
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous …
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected …
CLCN2-Related Leukoencephalopathy.
Min R, Depienne C, Sedel F, Abbink TEM, van der Knaap MS. Min R, et al. 2015 Nov 5 [updated 2021 May 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2015 Nov 5 [updated 2021 May 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 26539602 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. ...DIAGNOSIS/TESTING: The dia
CLINICAL CHARACTERISTICS: CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual i
ASAH1-Related Disorders.
Dyment DA, Bennett SAL, Medin JA, Levade T. Dyment DA, et al. 2018 Mar 29. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2018 Mar 29. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 29595935 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukoc …
DIAGNOSIS/TESTING: The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identi …
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, Jackson AU, Ferreira T, Lee Y, Ma C, Steinthorsdottir V, Thorleifsson G, Qi L, Van Zuydam NR, Mahajan A, Chen H, Almgren P, Voight BF, Grallert H, Müller-Nurasyid M, Ried JS, Rayner NW, Robertson N, Karssen LC, van Leeuwen EM, Willems SM, Fuchsberger C, Kwan P, Teslovich TM, Chanda P, Li M, Lu Y, Dina C, Thuillier D, Yengo L, Jiang L, Sparso T, Kestler HA, Chheda H, Eisele L, Gustafsson S, Frånberg M, Strawbridge RJ, Benediktsson R, Hreidarsson AB, Kong A, Sigurðsson G, Kerrison ND, Luan J, Liang L, Meitinger T, Roden M, Thorand B, Esko T, Mihailov E, Fox C, Liu CT, Rybin D, Isomaa B, Lyssenko V, Tuomi T, Couper DJ, Pankow JS, Grarup N, Have CT, Jørgensen ME, Jørgensen T, Linneberg A, Cornelis MC, van Dam RM, Hunter DJ, Kraft P, Sun Q, Edkins S, Owen KR, Perry JRB, Wood AR, Zeggini E, Tajes-Fernandes J, Abecasis GR, Bonnycastle LL, Chines PS, Stringham HM, Koistinen HA, Kinnunen L, Sennblad B, Mühleisen TW, Nöthen MM, Pechlivanis S, Baldassarre D, Gertow K, Humphries SE, Tremoli E, Klopp N, Meyer J, Steinbach G, Wennauer R, Eriksson JG, Mӓnnistö S, Peltonen L, Tikkanen E, Charpentier G, Eury E, Lobbens S, Gigante B, Leander K, McLeod O, Bottinger EP, Gottesman O, Ruderfer D, Blüher M, Kovacs P, Tonjes A, Maruthur NM, Scapoli C, Erbel R, Jöckel KH, Moebus S, de Faire U, Hamsten A, Stumvoll M, Deloukas P, Donnelly PJ, Frayling TM, Hattersley AT, Ripatti S, Salomaa V, Pedersen NL, Boehm BO, Bergman RN, Collins FS, Mohlke KL, Tuomilehto J, Hansen T, Pedersen O, Barroso I, Lannfelt L, Ingelsson E, Lind L, Lindgren CM, Cauchi S, Froguel P, Loos RJF, Balkau B, Boeing H, Franks PW, Barricarte Gurrea A, Palli D, van der Schouw YT, Altshuler D, Groop LC, Langenberg C, Wareham NJ, Sijbrands E, van Duijn CM, Florez JC, Meigs JB, Boerwinkle E, Gieger C, Strauch K, Metspalu A, Morris AD, Palmer CNA, Hu FB, Thorsteinsdottir U, Stefansson K, Dupuis J, Morris AP, Boehnke M, McCarthy MI, Prokopenko I; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. Scott RA, et al. Diabetes. 2017 Nov;66(11):2888-2902. doi: 10.2337/db16-1253. Epub 2017 May 31. Diabetes. 2017. PMID: 28566273 Free PMC article.
Despite substantially increased sample size and more complete coverage of low-frequency variation, all novel associations were driven by common single nucleotide variants. Credible sets of potentially causal variants were generally larger than those based on imputat …
Despite substantially increased sample size and more complete coverage of low-frequency variation, all novel associations were driven by com …
Development of a quantitative relationship between CAR-affinity, antigen abundance, tumor cell depletion and CAR-T cell expansion using a multiscale systems PK-PD model.
Singh AP, Zheng X, Lin-Schmidt X, Chen W, Carpenter TJ, Zong A, Wang W, Heald DL. Singh AP, et al. MAbs. 2020 Jan-Dec;12(1):1688616. doi: 10.1080/19420862.2019.1688616. MAbs. 2020. PMID: 31852337 Free PMC article.
The model accounted for key drug-specific (CAR-affinity, CAR-densities) and system-specific (antigen densities, E:T ratios) variables and was able to characterize comprehensive in vitro datasets from multiple affinity variants of anti-EGFR and anti-HER2 CAR-T cells. …
The model accounted for key drug-specific (CAR-affinity, CAR-densities) and system-specific (antigen densities, E:T ratios) variables and wa …
295 results