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Page 1
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Among authors: mah som ay. Genet Med. 2024 Jul 19;26(11):101218. doi: 10.1016/j.gim.2024.101218. Online ahead of print. Genet Med. 2024. PMID: 39036895 Free article.
Identifying genetic variants that influence the abundance of cell states in single-cell data.
Rumker L, Sakaue S, Reshef Y, Kang JB, Yazar S, Alquicira-Hernandez J, Valencia C, Lagattuta KA, Mah-Som A, Nathan A, Powell JE, Loh PR, Raychaudhuri S. Rumker L, et al. Among authors: mah som a. bioRxiv [Preprint]. 2023 Nov 15:2023.11.13.566919. doi: 10.1101/2023.11.13.566919. bioRxiv. 2023. Update in: Nat Genet. 2024 Oct;56(10):2068-2077. doi: 10.1038/s41588-024-01909-1. PMID: 38014313 Free PMC article. Updated. Preprint. No abstract available.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Alinger JB, et al. Among authors: mah som ay. J Allergy Clin Immunol. 2024 Jan;153(1):216-229. doi: 10.1016/j.jaci.2023.09.002. Epub 2023 Sep 13. J Allergy Clin Immunol. 2024. PMID: 37714437
MicroRNA-142 Is Critical for the Homeostasis and Function of Type 1 Innate Lymphoid Cells.
Berrien-Elliott MM, Sun Y, Neal C, Ireland A, Trissal MC, Sullivan RP, Wagner JA, Leong JW, Wong P, Mah-Som AY, Wong TN, Schappe T, Keppel CR, Cortez VS, Stamatiades EG, Li MO, Colonna M, Link DC, French AR, Cooper MA, Wang WL, Boldin MP, Reddy P, Fehniger TA. Berrien-Elliott MM, et al. Among authors: mah som ay. Immunity. 2019 Sep 17;51(3):479-490.e6. doi: 10.1016/j.immuni.2019.06.016. Epub 2019 Aug 8. Immunity. 2019. PMID: 31402259 Free PMC article.
Calcium carbonate nanoparticles stimulate tumor metabolic reprogramming and modulate tumor metastasis.
Som A, Raliya R, Paranandi K, High RA, Reed N, Beeman SC, Brandenburg M, Sudlow G, Prior JL, Akers W, Mah-Som AY, Habimana-Griffin L, Garbow J, Ippolito JE, Pagel MD, Biswas P, Achilefu S. Som A, et al. Among authors: mah som ay. Nanomedicine (Lond). 2019 Jan;14(2):169-182. doi: 10.2217/nnm-2018-0302. Epub 2018 Dec 6. Nanomedicine (Lond). 2019. PMID: 30730790 Free PMC article.