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

Year Number of Results
1968 1
1970 1
1972 1
1973 1
1975 4
1976 13
1977 11
1978 8
1979 11
1980 15
1981 32
1982 35
1983 62
1984 69
1985 115
1986 145
1987 167
1988 218
1989 247
1990 317
1991 368
1992 455
1993 488
1994 513
1995 510
1996 533
1997 515
1998 549
1999 582
2000 558
2001 633
2002 576
2003 663
2004 720
2005 815
2006 903
2007 977
2008 1046
2009 1150
2010 1246
2011 1356
2012 1508
2013 1623
2014 1869
2015 2113
2016 2388
2017 2542
2018 2850
2019 3321
2020 3656
2021 3961
2022 3649
2023 3379
2024 1223

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45,767 results

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Page 1
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G. Tsaousis GN, et al. BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4. BMC Cancer. 2019. PMID: 31159747 Free PMC article.
The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. ...Notably, 25 of the 264 positive individu …
The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinica …
Un-biased housekeeping gene panel selection for high-validity gene expression analysis.
Casas AI, Hassan AA, Manz Q, Wiwie C, Kleikers P, Egea J, López MG, List M, Baumbach J, Schmidt HHHW. Casas AI, et al. Sci Rep. 2022 Jul 19;12(1):12324. doi: 10.1038/s41598-022-15989-8. Sci Rep. 2022. PMID: 35853974 Free PMC article.
Using a panel of de novo top-ranked HK genes for brain hypoxia, but not single genes, Nox4 induction was consistently reproduced. Thus, differential gene expression analysis is best normalised against a HK gene panel selected in an unbias …
Using a panel of de novo top-ranked HK genes for brain hypoxia, but not single genes, Nox4 induction was consistently r …
Breast cancer genes: beyond BRCA1 and BRCA2.
Filippini SE, Vega A. Filippini SE, et al. Front Biosci (Landmark Ed). 2013 Jun 1;18(4):1358-72. doi: 10.2741/4185. Front Biosci (Landmark Ed). 2013. PMID: 23747889 Free article. Review.
Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number of high-, moderate-, and low-penetrance susceptibility genes. Family linkage studies have identified high-penetrance genes, B …
Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number …
[Next Generation Sequencing (NGS) for beginners].
Georget M, Pisan E. Georget M, et al. Rev Mal Respir. 2023 Apr;40(4):345-358. doi: 10.1016/j.rmr.2023.01.026. Epub 2023 Mar 1. Rev Mal Respir. 2023. PMID: 36863993 Review. French.
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of analysis apply NGS : multigene panel testing, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). While regions of interest depend …
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of analysis …
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.
Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A. Smaili I, et al. J Mol Neurosci. 2021 Jan;71(1):142-152. doi: 10.1007/s12031-020-01635-3. Epub 2020 Jun 16. J Mol Neurosci. 2021. PMID: 32557143

Patients were first screened for exon-rearrangements by MLPA kit. They were then analyzed by gene panel next-generation sequencing (NGS). Functional variants with minor allele frequencies < 0.5% in public databases were considered potential candidate variants to

…
Patients were first screened for exon-rearrangements by MLPA kit. They were then analyzed by gene panel next-generation sequen …
Human housekeeping genes, revisited.
Eisenberg E, Levanon EY. Eisenberg E, et al. Trends Genet. 2013 Oct;29(10):569-74. doi: 10.1016/j.tig.2013.05.010. Epub 2013 Jun 27. Trends Genet. 2013. PMID: 23810203
Advances in our ability to measure RNA expression have resulted in a gradual increase in the number of identified housekeeping genes. Here, we describe housekeeping gene detection in the era of massive parallel sequencing and RNA-seq. We emphasize the importance of …
Advances in our ability to measure RNA expression have resulted in a gradual increase in the number of identified housekeeping genes. …
Genetic screening of early-onset patients with systemic lupus erythematosus by a targeted next-generation sequencing gene panel.
Dasdemir S, Yildiz M, Celebi D, Sahin S, Aliyeva N, Haslak F, Gunalp A, Adrovic A, Barut K, Artim Esen B, Kasapcopur O. Dasdemir S, et al. Lupus. 2022 Mar;31(3):330-337. doi: 10.1177/09612033221076733. Epub 2022 Jan 27. Lupus. 2022. PMID: 35086391
CONCLUSION: We demonstrated a pathogenic variant in our target gene panel with a frequency of 9.52% in patients with a disease onset 10 years of age. All patients with early-onset SLE phenotype, irrespective of a positive family history for SLE or parental consangui …
CONCLUSION: We demonstrated a pathogenic variant in our target gene panel with a frequency of 9.52% in patients with a disease …
Clinical sequencing: is WGS the better WES?
Meienberg J, Bruggmann R, Oexle K, Matyas G. Meienberg J, et al. Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742503 Free PMC article.
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. ...
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective c …
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Y, Ankala A, Wilcox WR, Hegde MR. Xue Y, et al. Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232854 Free article. Review.
Today there are numerous molecular tests available, including single-gene tests, gene panels, and exome sequencing or genome sequencing. ...Next-generation sequencing-based gene panel testing, which can be complemented with array comparative gen …
Today there are numerous molecular tests available, including single-gene tests, gene panels, and exome sequencing or g …
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne C, Mandel JL. Depienne C, et al. Am J Hum Genet. 2021 May 6;108(5):764-785. doi: 10.1016/j.ajhg.2021.03.011. Epub 2021 Apr 2. Am J Hum Genet. 2021. PMID: 33811808 Free PMC article. Review.
These limitations still apply to the current widely used molecular diagnostic methods (exome or gene panels) and thus result in missed diagnosis detrimental to affected individuals and their families, especially for disorders that are very rare and/or clinically not …
These limitations still apply to the current widely used molecular diagnostic methods (exome or gene panels) and thus result i …
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