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Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Sanchez Russo R, Dormans JP, Mulle JG. Pollak RM, et al. Among authors: gambello mj. Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10. Am J Med Genet A. 2023. PMID: 37691301
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Russo RS, Dormans JP, Mulle JG. Pollak RM, et al. Among authors: gambello mj. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23288084. doi: 10.1101/2023.04.03.23288084. medRxiv. 2023. PMID: 37066183 Free PMC article. Updated. Preprint.
3q29 Recurrent Deletion.
Mulle JG, Gambello MJ, Sanchez Russo R, Murphy MM, Burrell TL, Klaiman C, White S, Saulnier CA, Walker EF, Cubells JF, Shultz S, Li L. Mulle JG, et al. Among authors: gambello mj. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27656750 Free Books & Documents. Review.
Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.
Shah AS, Black ED, Simon DM, Gambello MJ, Garber KB, Iannucci GJ, Riedesel EL, Kasi AS. Shah AS, et al. Among authors: gambello mj. Pediatr Allergy Immunol Pulmonol. 2021 Mar;34(1):7-14. doi: 10.1089/ped.2020.1280. Pediatr Allergy Immunol Pulmonol. 2021. PMID: 33734874 Free PMC article.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Among authors: gambello mj. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
90 results