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Page 1
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
Genet Med. 2020.
PMID: 31578471
Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F.
Velmans C, et al. Among authors: joseph m.
J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28.
J Med Genet. 2022.
PMID: 34321323
Free PMC article.
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Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Chandrasekar I, Tourney A, Loo K, Carmichael J, James K, Ellsworth KA, Dimmock D, Joseph M.
Chandrasekar I, et al. Among authors: joseph m.
Am J Med Genet A. 2021 Jul;185(7):2126-2130. doi: 10.1002/ajmg.a.62185. Epub 2021 Mar 22.
Am J Med Genet A. 2021.
PMID: 33749980
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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L.
Dimmock D, et al. Among authors: joseph m.
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4.
Am J Hum Genet. 2021.
PMID: 34089648
Free PMC article.
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Elevation of plasma transforming growth factor beta1 levels in stable nonatopic asthma.
Joseph J, Benedict S, Badrinath P, Wassef S, Joseph M, Abdulkhalik S, Nicholls MG.
Joseph J, et al. Among authors: joseph m.
Ann Allergy Asthma Immunol. 2003 Nov;91(5):472-6. doi: 10.1016/S1081-1206(10)61516-5.
Ann Allergy Asthma Immunol. 2003.
PMID: 14692431
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Paternal asthma is a predictor for childhood asthma in the consanguineous families from the United Arab Emirates.
Joseph M, Zoubeidi T, Al-Dhaheri SM, Al-Dhaheri AA, Al-Dhaheri AA, Al-Kaabi FM, Al-Muhairi SJ, Joseph J.
Joseph M, et al.
J Asthma. 2009 Mar;46(2):175-8. doi: 10.1080/02770900802604095.
J Asthma. 2009.
PMID: 19253126
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Serum interleukin-5 levels are elevated in mild and moderate persistent asthma irrespective of regular inhaled glucocorticoid therapy.
Joseph J, Benedict S, Safa W, Joseph M.
Joseph J, et al. Among authors: joseph m.
BMC Pulm Med. 2004 Mar 17;4:2. doi: 10.1186/1471-2466-4-2.
BMC Pulm Med. 2004.
PMID: 15113433
Free PMC article.
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