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Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.
Jiang SH, Mercan S, Papa I, Moldovan M, Walters GD, Koina M, Fadia M, Stanley M, Lea-Henry T, Cook A, Ellyard J, McMorran B, Sundaram M, Thomson R, Canete PF, Hoy W, Hutton H, Srivastava M, McKeon K, de la Rúa Figueroa I, Cervera R, Faria R, D'Alfonso S, Gatto M, Athanasopoulos V, Field M, Mathews J, Cho E, Andrews TD, Kitching AR, Cook MC, Riquelme MA, Bahlo M, Vinuesa CG. Jiang SH, et al. Among authors: bahlo m. Cell Rep Med. 2021 Dec 21;2(12):100475. doi: 10.1016/j.xcrm.2021.100475. eCollection 2021 Dec 21. Cell Rep Med. 2021. PMID: 35028616 Free PMC article.
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J. Hildebrand JM, et al. Among authors: bahlo m. Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z. Nat Commun. 2020. PMID: 32561755 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: bahlo m. Europace. 2021 Mar 8;23(3):441-450. doi: 10.1093/europace/euaa272. Europace. 2021. PMID: 33200177 Free PMC article.
Identifying nineteenth century genealogical links from genotypes.
Stankovich J, Bahlo M, Rubio JP, Wilkinson CR, Thomson R, Banks A, Ring M, Foote SJ, Speed TP. Stankovich J, et al. Among authors: bahlo m. Hum Genet. 2005 Jul;117(2-3):188-99. doi: 10.1007/s00439-005-1279-y. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883841
Use of copy number deletion polymorphisms to assess DNA chimerism.
Bruno DL, Ganesamoorthy D, Thorne NP, Ling L, Bahlo M, Forrest S, Veenendaal M, Katerelos M, Skene A, Ierino FL, Power DA, Slater HR. Bruno DL, et al. Among authors: bahlo m. Clin Chem. 2014 Aug;60(8):1105-14. doi: 10.1373/clinchem.2013.216077. Epub 2014 Jun 4. Clin Chem. 2014. PMID: 24899692
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J. Kumar R, et al. Among authors: bahlo m. Hum Mol Genet. 2015 Apr 1;24(7):2000-10. doi: 10.1093/hmg/ddu614. Epub 2014 Dec 11. Hum Mol Genet. 2015. PMID: 25504045
313 results