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The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.

Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP. Wade EM, et al. Hum Mutat. 2020 May;41(5):865-883. doi: 10.1002/humu.24002. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32108395 Review.

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FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function.

Wade EM, Goodin EA, Wang Y, Morgan T, Callon KE, Watson M, Daniel PB, Cornish J, McCulloch CA, Robertson SP. Wade EM, et al. Bone Rep. 2023 Feb 28;18:101668. doi: 10.1016/j.bonr.2023.101668. eCollection 2023 Jun. Bone Rep. 2023. PMID: 36909664 Free PMC article.

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Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.

Wade EM, Jenkins ZA, Morgan T, Gimenez G, Gibson H, Peng H, Sanchez Russo R, Skraban CM, Bedoukian E, Robertson SP. Wade EM, et al. Am J Med Genet A. 2021 Dec;185(12):3675-3682. doi: 10.1002/ajmg.a.62424. Epub 2021 Jul 17. Am J Med Genet A. 2021. PMID: 34272929

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Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.

Daniel S, Renwick M, Chau VQ, Datta S, Maddineni P, Zode G, Wade EM, Robertson SP, Petroll WM, Hulleman JD. Daniel S, et al. Among authors: wade em. J Mol Med (Berl). 2020 Nov;98(11):1639-1656. doi: 10.1007/s00109-020-01974-z. Epub 2020 Sep 22. J Mol Med (Berl). 2020. PMID: 32964303 Free PMC article.

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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L. Morlino S, et al. Among authors: wade em. Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27. Hum Mutat. 2019. PMID: 31250519

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Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia.

Wade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T. Wade EM, et al. Eur J Hum Genet. 2022 Apr;30(4):480-484. doi: 10.1038/s41431-021-00902-0. Epub 2021 May 9. Eur J Hum Genet. 2022. PMID: 33967277 Free PMC article.

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Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.

Mi J, Parthasarathy P, Halliday BJ, Morgan T, Dean J, Nowaczyk MJM, Markie D, Robertson SP, Wade EM. Mi J, et al. Among authors: wade em. Genes (Basel). 2020 Nov 30;11(12):1439. doi: 10.3390/genes11121439. Genes (Basel). 2020. PMID: 33265914 Free PMC article.

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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505

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Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP. Fukushima K, et al. Among authors: wade em. Genes (Basel). 2021 Apr 5;12(4):528. doi: 10.3390/genes12040528. Genes (Basel). 2021. PMID: 33916386 Free PMC article.

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Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC. Basart H, et al. Among authors: wade em. Am J Med Genet A. 2015 Jun;167(6):1215-22. doi: 10.1002/ajmg.a.37044. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899317

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