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Health Supervision for Children and Adolescents With Down Syndrome.
Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Bull MJ, et al. Among authors: introne wj. Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. Pediatrics. 2022. PMID: 35490285 No abstract available.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV. Kuptanon C, et al. Among authors: introne wj. Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023. Front Genet. 2023. PMID: 36968585 Free PMC article.
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J, Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl WA, Sharma P, Malicdan MCV. Serra-Vinardell J, et al. Among authors: introne wj. Cell Mol Life Sci. 2023 Mar 4;80(3):81. doi: 10.1007/s00018-023-04724-9. Cell Mol Life Sci. 2023. PMID: 36869920 Free PMC article. No abstract available.
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
Malechka VV, Duong D, Bordonada KD, Turriff A, Blain D, Murphy E, Introne WJ, Gochuico BR, Adams DR, Zein WM, Brooks BP, Huryn LA, Solomon BD, Hufnagel RB. Malechka VV, et al. Among authors: introne wj. Ophthalmol Sci. 2022 Sep 24;3(1):100225. doi: 10.1016/j.xops.2022.100225. eCollection 2023 Mar. Ophthalmol Sci. 2022. PMID: 36339947 Free PMC article.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: introne wj. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.
85 results