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Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.
Xi Y, Arbabi A, McNaughton AJM, Hamilton A, Hull D, Perras H, Chiu T, Morrison S, Goldsmith C, Creede E, Anger GJ, Honeywell C, Cloutier M, Macchio N, Kiss C, Liu X, Crocker S, Davies GA, Brudno M, Armour CM. Xi Y, et al. Among authors: goldsmith c. Fetal Diagn Ther. 2017;42(4):302-310. doi: 10.1159/000460248. Epub 2017 May 17. Fetal Diagn Ther. 2017. PMID: 28511174 Clinical Trial.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM. Del Gobbo GF, et al. Among authors: goldsmith c. Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38131126
Mosaic r(13) in an infant with aprosencephaly.
Goldsmith CL, Tawagi GF, Carpenter BF, Speevak MD, Hunter AG. Goldsmith CL, et al. Am J Med Genet. 1993 Sep 15;47(4):531-3. doi: 10.1002/ajmg.1320470418. Am J Med Genet. 1993. PMID: 8256818
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium; Kinoshita T, Dyment DA, Boycott KM, Campeau PM. Johnstone DL, et al. Among authors: goldsmith c. Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077. Hum Mol Genet. 2017. PMID: 28334793
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
Smith A, Bulman DE, Goldsmith C, Bareke E; FORGE Canada Consortium; Majewski J, Boycott KM, Nikkel SM. Smith A, et al. Among authors: goldsmith c. Eur J Hum Genet. 2015 Jul;23(7):990-2. doi: 10.1038/ejhg.2014.236. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370039 Free PMC article.
918 results