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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Werren EA, et al. Among authors: wheeler mm. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. Cell Death Dis. 2024. PMID: 38816421 Free PMC article.
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Among authors: wheeler mm. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel AB, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen MH, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët DA, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O'Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JC, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze JF, Rich SS, van Hylckama Vlieg A, Campbell H, Stott DJ, Soria JM, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, März W, Morange PE, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, Jukema JW, Ikram MA, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC. de Vries PS, et al. Among authors: wheeler mm. Blood. 2024 May 2;143(18):1845-1855. doi: 10.1182/blood.2023021452. Blood. 2024. PMID: 38320121
Sharing Nurses' Voices in Challenging Times.
Donner GJ, Wheeler MM. Donner GJ, et al. Among authors: wheeler mm. Nurs Leadersh (Tor Ont). 2023 Jul;36(2):8-16. doi: 10.12927/cjnl.2023.27207. Nurs Leadersh (Tor Ont). 2023. PMID: 37917341
76 results