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Page 1
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY, Chen LW, Tsai MC, Chou YY, Lin PX, Chang YM, Hwu WL, Chien YH, Lin JL, Chen HA, Lee NC, Su PH, Hsieh TC, Klinkhammer H, Wang YC, Huang YT, Krawitz PM, Lin SH, Huang LLH, Chiang PM, Shih MH, Chen PC. Li CY, et al. Among authors: hsieh tc. EBioMedicine. 2024 Dec;110:105476. doi: 10.1016/j.ebiom.2024.105476. Epub 2024 Nov 29. EBioMedicine. 2024. PMID: 39615461 Free PMC article.
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: hsieh tc. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Karimi K, et al. Among authors: hsieh tc. Eur J Hum Genet. 2024 Dec;32(12):1574-1582. doi: 10.1038/s41431-024-01702-y. Epub 2024 Oct 19. Eur J Hum Genet. 2024. PMID: 39424669
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.
Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis JA, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake NJ, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh TC, Holtz AM, Haack TB, Gold NB, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet KA, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay BG, Arlt M, Anikar SS, Almohammal MN, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Jamra RA. Berger E, et al. Among authors: hsieh tc. Genet Med. 2024 Nov 11:101326. doi: 10.1016/j.gim.2024.101326. Online ahead of print. Genet Med. 2024. PMID: 39540377 Free article.
A multicenter evaluation of penile curvature correction in men with Peyronie's disease undergoing inflatable penile prosthesis placement.
Hammad MAM, Barham DW, Simhan J, Nguyen T, Swerdloff D, Miller J, Hatzichristodoulou G, Sempels M, Andrianne R, Hotaling JM, Hsieh TC, Jones JM, Modgil V, Osmonov D, Pearce I, Perito P, Sadeghi-Nejad H, Suarez-Sarmiento A Jr, Yafi FA, Gross MS. Hammad MAM, et al. Among authors: hsieh tc. J Sex Med. 2024 Dec 27:qdae192. doi: 10.1093/jsxmed/qdae192. Online ahead of print. J Sex Med. 2024. PMID: 39724925
543 results