Taylor MR - Search Results

1

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK. Oates S, et al. Among authors: taylor mr. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.

2

Clinical and genetic characterization of adult patients presenting with non-syndromic vascular aneurysms and dissections.

D'Souza RS, Slavov D, Graw S, Jirikowic J, Todd E, Rogers RK, Taylor MR. D'Souza RS, et al. Among authors: taylor mr. Int Angiol. 2017 Oct;36(5):417-427. doi: 10.23736/S0392-9590.17.03757-9. Epub 2017 Jan 31. Int Angiol. 2017. PMID: 28139901 Free article.

3

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.

Brun F, Gigli M, Graw SL, Judge DP, Merlo M, Murray B, Calkins H, Sinagra G, Taylor MR, Mestroni L, James CA. Brun F, et al. Among authors: taylor mr. J Med Genet. 2020 Apr;57(4):254-257. doi: 10.1136/jmedgenet-2019-106394. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924696 Free PMC article.

4

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome.

Crenshaw MM, Graw SL, Slavov D, Boyle TA, Piqué DG, Taylor M, Baker P 2nd. Crenshaw MM, et al. Case Rep Genet. 2023 Sep 13;2023:4225092. doi: 10.1155/2023/4225092. eCollection 2023. Case Rep Genet. 2023. PMID: 37736297 Free PMC article.

5

Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy.

Brun F, Barnes CV, Sinagra G, Slavov D, Barbati G, Zhu X, Graw SL, Spezzacatene A, Pinamonti B, Merlo M, Salcedo EE, Sauer WH, Taylor MR, Mestroni L; Familial Cardiomyopathy Registry. Brun F, et al. Among authors: taylor mr. J Med Genet. 2014 Oct;51(10):669-76. doi: 10.1136/jmedgenet-2014-102591. Epub 2014 Aug 25. J Med Genet. 2014. PMID: 25157032 Free PMC article.

6

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.

Bovet C, Carlson M, Taylor M. Bovet C, et al. Am J Med Genet A. 2016 Aug;170(8):2044-51. doi: 10.1002/ajmg.a.37774. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273746

7

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM; ACMG Professional Practice and Guidelines Committee. Hershberger RE, et al. Genet Med. 2018 Sep;20(9):899-909. doi: 10.1038/s41436-018-0039-z. Epub 2018 Jun 14. Genet Med. 2018. PMID: 29904160 Free article.

8

Modifications of Titin Contribute to the Progression of Cardiomyopathy and Represent a Therapeutic Target for Treatment of Heart Failure.

Tharp C, Mestroni L, Taylor M. Tharp C, et al. J Clin Med. 2020 Aug 26;9(9):2770. doi: 10.3390/jcm9092770. J Clin Med. 2020. PMID: 32859027 Free PMC article. Review.

9

Use of complementary therapies for chronic pain management in patients with reported Ehlers-Danlos syndrome or hypermobility spectrum disorders.

Demes JS, McNair B, Taylor MRG. Demes JS, et al. Am J Med Genet A. 2020 Nov;182(11):2611-2623. doi: 10.1002/ajmg.a.61837. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32909698

10

Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1.

Anderson HE, Taylor MRG. Anderson HE, et al. Am J Med Genet A. 2020 Dec;182(12):2988-2993. doi: 10.1002/ajmg.a.61880. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985097

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