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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: kaspi a. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Kaspi A, et al. Mol Psychiatry. 2023 Apr;28(4):1647-1663. doi: 10.1038/s41380-022-01764-8. Mol Psychiatry. 2023. PMID: 36117209 Free PMC article.
Infanticide vs. inherited cardiac arrhythmias.
Brohus M, Arsov T, Wallace DA, Jensen HH, Nyegaard M, Crotti L, Adamski M, Zhang Y, Field MA, Athanasopoulos V, Baró I, Ribeiro de Oliveira-Mendes BB, Redon R, Charpentier F, Raju H, DiSilvestre D, Wei J, Wang R, Rafehi H, Kaspi A, Bahlo M, Dick IE, Chen SRW, Cook MC, Vinuesa CG, Overgaard MT, Schwartz PJ. Brohus M, et al. Among authors: kaspi a. Europace. 2021 Mar 8;23(3):441-450. doi: 10.1093/europace/euaa272. Europace. 2021. PMID: 33200177 Free PMC article.
Vascular histone deacetylation by pharmacological HDAC inhibition.
Rafehi H, Balcerczyk A, Lunke S, Kaspi A, Ziemann M, Kn H, Okabe J, Khurana I, Ooi J, Khan AW, Du XJ, Chang L, Haviv I, Keating ST, Karagiannis TC, El-Osta A. Rafehi H, et al. Among authors: kaspi a. Genome Res. 2014 Aug;24(8):1271-84. doi: 10.1101/gr.168781.113. Epub 2014 Apr 14. Genome Res. 2014. PMID: 24732587 Free PMC article.
Multicellular Transcriptional Analysis of Mammalian Heart Regeneration.
Quaife-Ryan GA, Sim CB, Ziemann M, Kaspi A, Rafehi H, Ramialison M, El-Osta A, Hudson JE, Porrello ER. Quaife-Ryan GA, et al. Among authors: kaspi a. Circulation. 2017 Sep 19;136(12):1123-1139. doi: 10.1161/CIRCULATIONAHA.117.028252. Epub 2017 Jul 21. Circulation. 2017. PMID: 28733351 Free PMC article.
Sex-Specific Control of Human Heart Maturation by the Progesterone Receptor.
Sim CB, Phipson B, Ziemann M, Rafehi H, Mills RJ, Watt KI, Abu-Bonsrah KD, Kalathur RKR, Voges HK, Dinh DT, Ter Huurne M, Vivien CJ, Kaspi A, Kaipananickal H, Hidalgo A, Delbridge LMD, Robker RL, Gregorevic P, Dos Remedios CG, Lal S, Piers AT, Konstantinov IE, Elliott DA, El-Osta A, Oshlack A, Hudson JE, Porrello ER. Sim CB, et al. Among authors: kaspi a. Circulation. 2021 Apr 20;143(16):1614-1628. doi: 10.1161/CIRCULATIONAHA.120.051921. Epub 2021 Mar 8. Circulation. 2021. PMID: 33682422 Free PMC article.
Lipoxins Regulate the Early Growth Response-1 Network and Reverse Diabetic Kidney Disease.
Brennan EP, Mohan M, McClelland A, Tikellis C, Ziemann M, Kaspi A, Gray SP, Pickering R, Tan SM, Ali-Shah ST, Guiry PJ, El-Osta A, Jandeleit-Dahm K, Cooper ME, Godson C, Kantharidis P. Brennan EP, et al. Among authors: kaspi a. J Am Soc Nephrol. 2018 May;29(5):1437-1448. doi: 10.1681/ASN.2017101112. Epub 2018 Feb 28. J Am Soc Nephrol. 2018. PMID: 29490938 Free PMC article.
38 results