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RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/WNL.0000000000011543. Epub 2021 Jan 27.
Neurology. 2021.
PMID: 33504645
Free PMC article.
SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.
Pagni S, Custodio HM, Frankish A, Mudge JM, Mills JD, Sisodiya SM.
Pagni S, et al. Among authors: custodio hm.
Hum Mol Genet. 2023 May 5;32(10):1753-1763. doi: 10.1093/hmg/ddad015.
Hum Mol Genet. 2023.
PMID: 36715146
Free PMC article.
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA.
Jeffries L, et al. Among authors: custodio hm.
Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7.
Genet Med. 2024.
PMID: 37947183
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Genetic influences on the retention of inorganic mercury.
Custodio HM, Harari R, Gerhardsson L, Skerfving S, Broberg K.
Custodio HM, et al.
Arch Environ Occup Health. 2005 Jan-Feb;60(1):17-23. doi: 10.3200/AEOH.60.1.17-23.
Arch Environ Occup Health. 2005.
PMID: 16961004
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Polymorphisms in glutathione-related genes affect methylmercury retention.
Custodio HM, Broberg K, Wennberg M, Jansson JH, Vessby B, Hallmans G, Stegmayr B, Skerfving S.
Custodio HM, et al.
Arch Environ Health. 2004 Nov;59(11):588-95. doi: 10.1080/00039890409603438.
Arch Environ Health. 2004.
PMID: 16599007
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Time trends in burdens of cadmium, lead, and mercury in the population of northern Sweden.
Wennberg M, Lundh T, Bergdahl IA, Hallmans G, Jansson JH, Stegmayr B, Custodio HM, Skerfving S.
Wennberg M, et al. Among authors: custodio hm.
Environ Res. 2006 Mar;100(3):330-8. doi: 10.1016/j.envres.2005.08.013. Epub 2005 Oct 10.
Environ Res. 2006.
PMID: 16221471
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