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Page 1
Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2.
Littleton SH, Trang KB, Volpe CM, Cook K, DeBruyne N, Maguire JA, Weidekamp MA, Hodge KM, Boehm K, Lu S, Chesi A, Bradfield JP, Pippin JA, Anderson SA, Wells AD, Pahl MC, Grant SFA. Littleton SH, et al. Among authors: pahl mc. Cell Genom. 2024 May 8;4(5):100556. doi: 10.1016/j.xgen.2024.100556. Epub 2024 May 1. Cell Genom. 2024. PMID: 38697123 Free PMC article.
Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus.
Burton EA, Argenziano M, Cook K, Ridler M, Lu S, Su C, Manduchi E, Littleton SH, Leonard ME, Hodge KM, Wang LS, Schellenberg GD, Johnson ME, Pahl MC, Pippin JA, Wells AD, Anderson SA, Brown CD, Grant SFA, Chesi A. Burton EA, et al. Among authors: pahl mc. bioRxiv [Preprint]. 2024 Aug 22:2024.08.22.609230. doi: 10.1101/2024.08.22.609230. bioRxiv. 2024. PMID: 39229212 Free PMC article. Preprint.
Perturbation of the insomnia WDR90 genome-wide association studies locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q.
Sonti S, Littleton SH, Pahl MC, Zimmerman AJ, Chesi A, Palermo J, Lasconi C, Brown EB, Pippin JA, Wells AD, Doldur-Balli F, Pack AI, Gehrman PR, Keene AC, Grant SFA. Sonti S, et al. Among authors: pahl mc. Sleep. 2024 Jul 11;47(7):zsae085. doi: 10.1093/sleep/zsae085. Sleep. 2024. PMID: 38571402 Free PMC article.
Trans-ancestry genome-wide association meta-analysis of gallstone disease.
Lim J, Vujkovic M, Levin MG, Lorenz K, Voight BF, Zhang DY, Dudek MF, Pahl MC, Pippin JA, Su C, Manduchi E, Wells AD, Grant SFA, Abramowitz S, Damrauer SM, Mukherjee S, Yang G, Kaplan DE; Penn Medicine BioBank; Rader DJ. Lim J, et al. Among authors: pahl mc. medRxiv [Preprint]. 2025 Mar 17:2025.03.16.25324077. doi: 10.1101/2025.03.16.25324077. medRxiv. 2025. PMID: 40166541 Free PMC article. Preprint.
Shared and unique 3D genomic features of substance use disorders across multiple cell types.
Trang KB, Chesi A, Toikumo S, Pippin JA, Pahl MC, O'Brien JM, Amundadottir LT, Brown KM, Yang W, Welles J, Santoleri D, Titchenell PM, Seale P, Zemel BS, Wagley Y, Hankenson KD, Kaestner KH, Anderson SA, Kayser MS, Wells AD, Kranzler HR, Kember RL, Grant SFA. Trang KB, et al. Among authors: pahl mc. medRxiv [Preprint]. 2024 Jul 19:2024.07.18.24310649. doi: 10.1101/2024.07.18.24310649. medRxiv. 2024. PMID: 39072016 Free PMC article. Preprint.
36 results