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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: sidhu a. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Škrjanec Pušenjak M, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: sidhu a. HGG Adv. 2021 Jan 21;2(2):100024. doi: 10.1016/j.xhgg.2021.100024. eCollection 2021 Apr 8. HGG Adv. 2021. PMID: 35047834 Free PMC article.
Mutations in ARID2 are associated with intellectual disabilities.
Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P, Juusola J, O'Donnell-Luria AH, Shen Y, Chung WK. Shang L, et al. Among authors: sidhu a. Neurogenetics. 2015 Oct;16(4):307-14. doi: 10.1007/s10048-015-0454-0. Epub 2015 Aug 4. Neurogenetics. 2015. PMID: 26238514
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Pušenjak MŠ, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: sidhu a. HGG Adv. 2022 Jul 12;3(4):100122. doi: 10.1016/j.xhgg.2022.100122. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 35860725 Free PMC article.
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.
Tung ML, Chandra B, Dillahunt K, Gosse MD, Sato TS, Sidhu A. Tung ML, et al. Among authors: sidhu a. Front Oncol. 2022 Jul 7;12:925582. doi: 10.3389/fonc.2022.925582. eCollection 2022. Front Oncol. 2022. PMID: 35875079 Free PMC article.
Prepregnancy exposure to dietary arsenic and congenital heart defects.
Suhl J, Conway KM, Rhoads A, Langlois PH, Feldkamp ML, Michalski AM, Oleson J, Sidhu A, Scholz TD, Kancherla V, Obrycki J, Mazumdar M, Romitti PA; National Birth Defects Prevention Study. Suhl J, et al. Among authors: sidhu a. Birth Defects Res. 2023 Jan 1;115(1):79-87. doi: 10.1002/bdr2.2110. Epub 2022 Nov 7. Birth Defects Res. 2023. PMID: 36341763 Free PMC article.
343 results