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Year Number of Results
1985 1
1992 1
1993 8
1994 2
1996 1
1997 2
1999 5
2000 3
2001 1
2002 1
2003 8
2004 4
2005 5
2006 8
2007 5
2008 7
2009 5
2010 10
2011 15
2012 9
2013 13
2014 10
2015 16
2016 24
2017 25
2018 29
2019 23
2020 15
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225 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 …
Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease.
Menzel S, Thein SL. Menzel S, et al. Mol Diagn Ther. 2019 Apr;23(2):235-244. doi: 10.1007/s40291-018-0370-8. Mol Diagn Ther. 2019. PMID: 30478714 Review.
Fetal haemoglobin (HbF) levels have a clinically beneficial effect on sickle cell disease (SCD). Patients with SCD demonstrate extreme variability in HbF levels (1-30%), a large part of which is likely genetically determined. ...We review current knowledge on the …
Fetal haemoglobin (HbF) levels have a clinically beneficial effect on sickle cell disease (SCD). Patients with SCD demonstrate extrem …
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.
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects of European ancestry after imputation using the 1000 Genomes mult …
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of geno …
Genetic causes of proportionate short stature.
Argente J, Pérez-Jurado LA. Argente J, et al. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):499-522. doi: 10.1016/j.beem.2018.05.012. Epub 2018 Jun 6. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086871 Review.
Their early diagnosis, facilitated by advances in genomic technologies, is of upmost importance for their clinical management and to provide genetic counseling. Here we review the current clinical and genetic information regarding different syndromes a …
Their early diagnosis, facilitated by advances in genomic technologies, is of upmost importance for their clinical management and to …
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 …
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 …
Emerging therapeutic targets in the short QT syndrome.
Hancox JC, Whittaker DG, Du C, Stuart AG, Zhang H. Hancox JC, et al. Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621. Expert Opin Ther Targets. 2018. PMID: 29697308 Free article. Review.
Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. ...Areas covered: The genetic basis for genotyped SQTS variants (SQT1-SQT8) and evidence for a …
Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhyt …
Genomic analyses of PMBL reveal new drivers and mechanisms of sensitivity to PD-1 blockade.
Chapuy B, Stewart C, Dunford AJ, Kim J, Wienand K, Kamburov A, Griffin GK, Chen PH, Lako A, Redd RA, Cote CM, Ducar MD, Thorner AR, Rodig SJ, Getz G, Shipp MA. Chapuy B, et al. Blood. 2019 Dec 26;134(26):2369-2382. doi: 10.1182/blood.2019002067. Blood. 2019. PMID: 31697821
Here, we report a comprehensive analysis of recurrent genetic alterations -somatic mutations, somatic copy number alterations, and structural variants-in a cohort of 37 newly diagnosed PMBLs. ...The shared genetic features between PMBL and cHL provide a frame …
Here, we report a comprehensive analysis of recurrent genetic alterations -somatic mutations, somatic copy number alterations, and st …
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
Ma N, Zhang JZ, Itzhaki I, Zhang SL, Chen H, Haddad F, Kitani T, Wilson KD, Tian L, Shrestha R, Wu H, Lam CK, Sayed N, Wu JC. Ma N, et al. Circulation. 2018 Dec 4;138(23):2666-2681. doi: 10.1161/CIRCULATIONAHA.117.032273. Circulation. 2018. PMID: 29914921 Free PMC article.
VUS, therefore, pose critical clinical interpretation and risk-assessment challenges, and new methods are urgently needed to better characterize their pathogenicity. METHODS: To address this challenge and showcase the uncertainty surrounding genomic variant i …
VUS, therefore, pose critical clinical interpretation and risk-assessment challenges, and new methods are urgently needed to better …
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
(Thr522Asn) and a novel variant, p.(Met117Ile). Affected individuals with LARS2 variants had low frequency SNHL, a feature previously described in Perrault syndrome. ...(Asn399Ser) variants in Twinkle (C10orf2). A male was homozygous for a novel variant
(Thr522Asn) and a novel variant, p.(Met117Ile). Affected individuals with LARS2 variants had low frequency SNHL, a feature pre …
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