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High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Willard N, Abman SH, Galambos C, Kinsella JP, Stankiewicz P. Yıldız Bölükbaşı E, et al. Mol Genet Genomic Med. 2022 Nov;10(11):e2062. doi: 10.1002/mgg3.2062. Epub 2022 Sep 20. Mol Genet Genomic Med. 2022. PMID: 36124617 Free PMC article.
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P. Gambin T, et al. Genet Med. 2020 Nov;22(11):1768-1776. doi: 10.1038/s41436-020-0897-z. Epub 2020 Jul 13. Genet Med. 2020. PMID: 32655138 Free PMC article.
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
Karolak JA, Liu Q, Xie NG, Wu LR, Rocha G, Fernandes S, Ho-Ming L, Lo IF, Mowat D, Fiorino EK, Edelman M, Fox J, Hayes DA, Witte D, Parrott A, Popek E, Szafranski P, Zhang DY, Stankiewicz P. Karolak JA, et al. J Mol Diagn. 2020 Apr;22(4):447-456. doi: 10.1016/j.jmoldx.2019.12.007. Epub 2020 Feb 7. J Mol Diagn. 2020. PMID: 32036090 Free PMC article.
12 results