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Prenatal Diagnosis of a Ventral Abdominal Wall Defect.
Beam K, Wojcik MH, Agrawal PB, Smithers C, Estroff J. Beam K, et al. Among authors: wojcik mh. Neoreviews. 2020 Apr;21(4):e286-e292. doi: 10.1542/neo.21-4-e286. Neoreviews. 2020. PMID: 32238493 Free PMC article. No abstract available.
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Among authors: wojcik mh. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: wojcik mh. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.
Infant mortality: the contribution of genetic disorders.
Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Wojcik MH, et al. J Perinatol. 2019 Dec;39(12):1611-1619. doi: 10.1038/s41372-019-0451-5. Epub 2019 Aug 8. J Perinatol. 2019. PMID: 31395954 Free PMC article.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Gubbels CS, et al. Among authors: wojcik mh. Genet Med. 2020 Apr;22(4):736-744. doi: 10.1038/s41436-019-0708-6. Epub 2019 Nov 29. Genet Med. 2020. PMID: 31780822 Free PMC article.
94 results