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Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.
Meredith S, Brackett S, Diaz KM, Freeman KG, Huggins E, Khan H, Leach MW, Levitz M, Michie M, Onufer J, Skotko BG, Smith L, Nicole White A, Waller T, Ayers K; Prenatal Subcommittee of the Center for Dignity in Healthcare for People with Disabilities. Meredith S, et al. Among authors: skotko bg. Disabil Health J. 2023 Apr;16(2):101401. doi: 10.1016/j.dhjo.2022.101401. Epub 2022 Nov 5. Disabil Health J. 2023. PMID: 36463093
ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. Gregg AR, et al. Among authors: skotko bg. Genet Med. 2013 May;15(5):395-8. doi: 10.1038/gim.2013.29. Epub 2013 Apr 4. Genet Med. 2013. PMID: 23558255 Free article.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: skotko bg. Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x. Genet Med. 2019. PMID: 30643220 Free article.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068
118 results