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

Year Number of Results
1985 1
1987 1
1989 1
1993 1
1994 1
1997 4
1998 1
1999 3
2000 3
2001 2
2002 3
2003 3
2004 5
2005 6
2006 1
2008 2
2009 1
2010 1
2011 2
2012 4
2013 1
2014 3
2015 6
2016 2
2017 3
2018 1
2019 3
2020 3
2021 1
2022 2
2023 2
2024 0

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66 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
Le Gall L, Duddy WJ, Martinat C, Mariot V, Connolly O, Milla V, Anakor E, Ouandaogo ZG, Millecamps S, Lainé J, Vijayakumar UG, Knoblach S, Raoul C, Lucas O, Loeffler JP, Bede P, Behin A, Blasco H, Bruneteau G, Del Mar Amador M, Devos D, Henriques A, Hesters A, Lacomblez L, Laforet P, Langlet T, Leblanc P, Le Forestier N, Maisonobe T, Meininger V, Robelin L, Salachas F, Stojkovic T, Querin G, Dumonceaux J, Butler Browne G, González De Aguilar JL, Duguez S, Pradat PF. Le Gall L, et al. Among authors: knoblach s. J Cachexia Sarcopenia Muscle. 2022 Apr;13(2):1385-1402. doi: 10.1002/jcsm.12945. Epub 2022 Feb 22. J Cachexia Sarcopenia Muscle. 2022. PMID: 35194965 Free PMC article.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Among authors: knoblach s. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472
Novel neuroprotective tripeptides and dipeptides.
Faden AI, Knoblach SM, Movsesyan VA, Lea PM 4th, Cernak I. Faden AI, et al. Among authors: knoblach sm. Ann N Y Acad Sci. 2005 Aug;1053:472-81. doi: 10.1111/j.1749-6632.2005.tb00057.x. Ann N Y Acad Sci. 2005. PMID: 16179555 Review.
Extracellular microRNA signature in chronic kidney disease.
Muralidharan J, Ramezani A, Hubal M, Knoblach S, Shrivastav S, Karandish S, Scott R, Maxwell N, Ozturk S, Beddhu S, Kopp JB, Raj DS. Muralidharan J, et al. Among authors: knoblach s. Am J Physiol Renal Physiol. 2017 Jun 1;312(6):F982-F991. doi: 10.1152/ajprenal.00569.2016. Epub 2017 Jan 11. Am J Physiol Renal Physiol. 2017. PMID: 28077372 Free PMC article.
Peripheral blood marker of residual acute leukemia after hematopoietic cell transplantation using multi-plex digital droplet PCR.
Stanojevic M, Grant M, Vesely SK, Knoblach S, Kanakry CG, Nazarian J, Panditharatna E, Panchapakesan K, Gress RE, Holter-Chakrabarty J, Williams KM. Stanojevic M, et al. Among authors: knoblach s. Front Immunol. 2022 Sep 29;13:999298. doi: 10.3389/fimmu.2022.999298. eCollection 2022. Front Immunol. 2022. PMID: 36248870 Free PMC article.
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder.
Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. Goodrich M, et al. Among authors: knoblach s. Autism Res. 2019 Feb;12(2):200-211. doi: 10.1002/aur.2051. Epub 2018 Dec 17. Autism Res. 2019. PMID: 30556326 Free PMC article.
A long-read RNA-seq approach to identify novel transcripts of very large genes.
Uapinyoying P, Goecks J, Knoblach SM, Panchapakesan K, Bonnemann CG, Partridge TA, Jaiswal JK, Hoffman EP. Uapinyoying P, et al. Among authors: knoblach sm. Genome Res. 2020 Jun;30(6):885-897. doi: 10.1101/gr.259903.119. Epub 2020 Jul 6. Genome Res. 2020. PMID: 32660935 Free PMC article.
Global gene profiling of VCP-associated inclusion body myopathy.
Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis VE. Nalbandian A, et al. Among authors: knoblach s. Clin Transl Sci. 2012 Jun;5(3):226-34. doi: 10.1111/j.1752-8062.2012.00407.x. Epub 2012 Apr 4. Clin Transl Sci. 2012. PMID: 22686199 Free PMC article.
66 results