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Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Among authors: chan k. Genet Med. 2024 Feb 29;26(6):101102. doi: 10.1016/j.gim.2024.101102. Online ahead of print. Genet Med. 2024. PMID: 38431799
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Vitobello A, et al. Among authors: chan km. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. Am J Hum Genet. 2022. PMID: 35907405 Free PMC article.
The prognostic value of metabolic dysfunction-associated steatotic liver disease in acute myocardial infarction: A propensity score-matched analysis.
Kong G, Cao G, Koh J, Chan SP, Zhang A, Wong E, Chong B, Jauhari SM, Wang JW, Mehta A, Figtree GA, Mamas MA, Ng G, Chan KH, Chai P, Low AF, Lee CH, Yeo TC, Yip J, Foo R, Tan HC, Huang DQ, Muthiah M, Chan MY, Loh PH, Chew NWS. Kong G, et al. Among authors: chan kh. Diabetes Obes Metab. 2024 May 23. doi: 10.1111/dom.15660. Online ahead of print. Diabetes Obes Metab. 2024. PMID: 38779875
Human CD4-binding site antibody elicited by polyvalent DNA prime-protein boost vaccine neutralizes cross-clade tier-2-HIV strains.
Wang S, Chan KW, Wei D, Ma X, Liu S, Hu G, Park S, Pan R, Gu Y, Nazzari AF, Olia AS, Xu K, Lin BC, Louder MK, McKee K, Doria-Rose NA, Montefiori D, Seaman MS, Zhou T, Kwong PD, Arthos J, Kong XP, Lu S. Wang S, et al. Among authors: chan kw. Nat Commun. 2024 May 21;15(1):4301. doi: 10.1038/s41467-024-48514-8. Nat Commun. 2024. PMID: 38773089 Free PMC article.
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