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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: gregersen pa. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
Aortic events in a nationwide Marfan syndrome cohort.
Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH. Groth KA, et al. Among authors: gregersen pa. Clin Res Cardiol. 2017 Feb;106(2):105-112. doi: 10.1007/s00392-016-1028-3. Epub 2016 Aug 22. Clin Res Cardiol. 2017. PMID: 27550511
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Among authors: gregersen pa. Mol Genet Metab. 2018 Dec;125(4):361. doi: 10.1016/j.ymgme.2017.11.007. Epub 2018 Jan 8. Mol Genet Metab. 2018. PMID: 29325814 No abstract available.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Lildballe DL, Frederiksen AL, Schönewolf-Greulich B, Brasch-Andersen C, Lautrup CK, Karstensen HG, Pedersen IS, Sunde L, Risom L, Rasmussen M, Bertelsen M, Andersen MK, Rendtorff ND, Gregersen PA, Tørring PM, Hammer-Hansen S, Boonen SE, Lindquist SG, Hammer TB, Diness BR. Lildballe DL, et al. Among authors: gregersen pa. Eur J Med Genet. 2023 Dec;66(12):104872. doi: 10.1016/j.ejmg.2023.104872. Epub 2023 Nov 13. Eur J Med Genet. 2023. PMID: 37967791
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D. Covaciu C, et al. Among authors: gregersen pa. Br J Dermatol. 2011 Sep;165(3):678-82. doi: 10.1111/j.1365-2133.2011.10414.x. Epub 2011 Jul 28. Br J Dermatol. 2011. PMID: 21574979
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