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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: del gobbo gf. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
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. 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
The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.
Khan A, Inkster AM, Peñaherrera MS, King S, Kildea S, Oberlander TF, Olson DM, Vaillancourt C, Brain U, Beraldo EO, Beristain AG, Clifton VL, Del Gobbo GF, Lam WL, Metz GAS, Ng JWY, Price EM, Schuetz JM, Yuan V, Portales-Casamar É, Robinson WP. Khan A, et al. Among authors: del gobbo gf. Epigenetics Chromatin. 2023 Oct 4;16(1):37. doi: 10.1186/s13072-023-00507-5. Epigenetics Chromatin. 2023. PMID: 37794499 Free PMC article.
The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.
Khan A, Inkster AM, Peñaherrera MS, King S, Kildea S, Oberlander TF, Olson DM, Vaillancourt C, Brain U, Beraldo EO, Beristain AG, Clifton VL, Del Gobbo GF, Lam WL, Metz GA, Ng JW, Price EM, Schuetz JM, Yuan V, Portales-Casamar É, Robinson WP. Khan A, et al. Among authors: del gobbo gf. Res Sq [Preprint]. 2023 Jun 26:rs.3.rs-3069705. doi: 10.21203/rs.3.rs-3069705/v1. Res Sq. 2023. Update in: Epigenetics Chromatin. 2023 Oct 4;16(1):37. doi: 10.1186/s13072-023-00507-5 PMID: 37461679 Free PMC article. Updated. Preprint.
Mistakes Are Common; Should We Worry about Them?
Robinson WP, Del Gobbo GF. Robinson WP, et al. Among authors: del gobbo gf. Trends Mol Med. 2021 Aug;27(8):721-722. doi: 10.1016/j.molmed.2021.04.008. Epub 2021 May 11. Trends Mol Med. 2021. PMID: 33994120 Review.
Genomic imbalances in the placenta are associated with poor fetal growth.
Del Gobbo GF, Yin Y, Choufani S, Butcher EA, Wei J, Rajcan-Separovic E, Bos H, von Dadelszen P, Weksberg R, Robinson WP, Yuen RKC. Del Gobbo GF, et al. Mol Med. 2021 Jan 7;27(1):3. doi: 10.1186/s10020-020-00253-4. Mol Med. 2021. PMID: 33413077 Free PMC article.
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