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A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M, Javed S, Baig HMA, Quinodoz M, Ullah M, Han JH, Rahim MU, Kausar H, Calzetti G, Rivolta C. Ansar M, et al. Among authors: han jh. Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10. Ophthalmic Genet. 2022. PMID: 35946463 No abstract available.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: han jh. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.
Kim JH, Koh IG, Lee H, Lee GH, Song DY, Kim SW, Kim Y, Han JH, Bong G, Lee J, Byun H, Son JH, Kim YR, Lee Y, Kim JJ, Park JW, Kim IB, Choi JK, Jang JH, Trost B, Lee J, Kim E, Yoo HJ, An JY. Kim JH, et al. Among authors: han jh. Psychiatry Clin Neurosci. 2024 May 15. doi: 10.1111/pcn.13676. Online ahead of print. Psychiatry Clin Neurosci. 2024. PMID: 38751214
GPR41 and GPR43: From development to metabolic regulation.
Lee DH, Kim MT, Han JH. Lee DH, et al. Among authors: han jh. Biomed Pharmacother. 2024 May 13;175:116735. doi: 10.1016/j.biopha.2024.116735. Online ahead of print. Biomed Pharmacother. 2024. PMID: 38744220 Review.
2,602 results