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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Dworschak GC, et al. Among authors: hudson b. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. Genet Med. 2021. PMID: 34054129 Free PMC article.
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM. Salian S, et al. Among authors: hudson b. Clin Genet. 2021 Nov;100(5):607-614. doi: 10.1111/cge.14033. Epub 2021 Jul 29. Clin Genet. 2021. PMID: 34296759
Inflammatory risk and cardiovascular events in patients without obstructive coronary artery disease: the ORFAN multicentre, longitudinal cohort study.
Chan K, Wahome E, Tsiachristas A, Antonopoulos AS, Patel P, Lyasheva M, Kingham L, West H, Oikonomou EK, Volpe L, Mavrogiannis MC, Nicol E, Mittal TK, Halborg T, Kotronias RA, Adlam D, Modi B, Rodrigues J, Screaton N, Kardos A, Greenwood JP, Sabharwal N, De Maria GL, Munir S, McAlindon E, Sohan Y, Tomlins P, Siddique M, Kelion A, Shirodaria C, Pugliese F, Petersen SE, Blankstein R, Desai M, Gersh BJ, Achenbach S, Libby P, Neubauer S, Channon KM, Deanfield J, Antoniades C; ORFAN Consortium. Chan K, et al. Lancet. 2024 May 29:S0140-6736(24)00596-8. doi: 10.1016/S0140-6736(24)00596-8. Online ahead of print. Lancet. 2024. PMID: 38823406 Free article.
Childhood asthma exacerbations on the Navajo Nation.
Bender BG, Crooks J, Gerald JK, Hudson B, King DK, Kobernick A, Liu AH, Lowe AA, Morgan W, Nez P, Phan H, Wightman P, Gerald LB. Bender BG, et al. Among authors: hudson b. J Allergy Clin Immunol Pract. 2024 Apr 30:S2213-2198(24)00429-X. doi: 10.1016/j.jaip.2024.04.044. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 38697473 No abstract available.
1,102 results