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

Year Number of Results
1992 1
1993 1
1995 1
1998 2
1999 2
2000 2
2001 2
2002 2
2004 3
2005 4
2006 2
2007 3
2009 1
2010 1
2011 3
2012 4
2013 2
2014 1
2015 4
2016 6
2017 5
2018 7
2019 3
2020 6
2021 7
2022 6
2023 4
2024 2

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80 results

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Page 1
Antisense oligonucleotide therapy for KCNT1 encephalopathy.
Burbano LE, Li M, Jancovski N, Jafar-Nejad P, Richards K, Sedo A, Soriano A, Rollo B, Jia L, Gazina EV, Piltz S, Adikusuma F, Thomas PQ, Kopsidas H, Rigo F, Reid CA, Maljevic S, Petrou S. Burbano LE, et al. Among authors: thomas pq. JCI Insight. 2022 Dec 8;7(23):e146090. doi: 10.1172/jci.insight.146090. JCI Insight. 2022. PMID: 36173683 Free PMC article.
A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature.
Kazenwadel J, Venugopal P, Oszmiana A, Toubia J, Arriola-Martinez L, Panara V, Piltz SG, Brown C, Ma W, Schreiber AW, Koltowska K, Taoudi S, Thomas PQ, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: thomas pq. Nature. 2023 Feb;614(7947):343-348. doi: 10.1038/s41586-022-05650-9. Epub 2023 Jan 25. Nature. 2023. PMID: 36697821
CRISPR Tackles Emerging Viral Pathogens.
Kirby EN, Shue B, Thomas PQ, Beard MR. Kirby EN, et al. Among authors: thomas pq. Viruses. 2021 Oct 26;13(11):2157. doi: 10.3390/v13112157. Viruses. 2021. PMID: 34834963 Free PMC article. Review.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. Shi H, et al. Among authors: thomas pq. N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. N Engl J Med. 2017. PMID: 28792876 Free article.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: thomas pq. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Bhattacharjee R, Jolly LA, Corbett MA, Wee IC, Rao SR, Gardner AE, Ritchie T, van Hugte EJH, Ciptasari U, Piltz S, Noll JE, Nazri N, van Eyk CL, White M, Fornarino D, Poulton C, Baynam G, Collins-Praino LE, Snel MF, Nadif Kasri N, Hemsley KM, Thomas PQ, Kumar R, Gecz J. Bhattacharjee R, et al. Among authors: thomas pq. Nat Commun. 2024 Feb 8;15(1):1210. doi: 10.1038/s41467-024-45121-5. Nat Commun. 2024. PMID: 38331934 Free PMC article.
Large deletions induced by Cas9 cleavage.
Adikusuma F, Piltz S, Corbett MA, Turvey M, McColl SR, Helbig KJ, Beard MR, Hughes J, Pomerantz RT, Thomas PQ. Adikusuma F, et al. Among authors: thomas pq. Nature. 2018 Aug;560(7717):E8-E9. doi: 10.1038/s41586-018-0380-z. Epub 2018 Aug 8. Nature. 2018. PMID: 30089922 No abstract available.
80 results