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A humanized mouse model for adeno-associated viral gene therapy.
Barzi M, Chen T, Gonzalez TJ, Pankowicz FP, Oh SH, Streff HL, Rosales A, Ma Y, Collias S, Woodfield SE, Diehl AM, Vasudevan SA, Galvan TN, Goss J, Gersbach CA, Bissig-Choisat B, Asokan A, Bissig KD. Barzi M, et al. Among authors: streff hl. Nat Commun. 2024 Mar 4;15(1):1955. doi: 10.1038/s41467-024-46017-0. Nat Commun. 2024. PMID: 38438373 Free PMC article.
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: streff h. Genet Med. 2024 Feb 29;26(6):101102. doi: 10.1016/j.gim.2024.101102. Online ahead of print. Genet Med. 2024. PMID: 38431799
A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. Manohar S, et al. Among authors: streff h. Am J Med Genet A. 2024 Jan;194(1):77-81. doi: 10.1002/ajmg.a.63403. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37746810
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: streff h. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
41 results