Weaver KN - Search Results

1

Cantu syndrome: A longitudinal review of vascular findings in three individuals.

Parrott A, Lombardo R, Brown N, Tretter JT, Riley L, Weaver KN. Parrott A, et al. Among authors: weaver kn. Am J Med Genet A. 2020 May;182(5):1243-1248. doi: 10.1002/ajmg.a.61521. Epub 2020 Feb 17. Am J Med Genet A. 2020. PMID: 32065455

2

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Weaver KN, et al. Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458983

3

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. Hufnagel SB, et al. Among authors: weaver kn. Am J Med Genet A. 2014 Oct;164A(10):2607-12. doi: 10.1002/ajmg.a.36688. Epub 2014 Aug 4. Am J Med Genet A. 2014. PMID: 25091507 Free PMC article.

4

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

Ritter A, Atzinger C, Hays B, James J, Shikany A, Neilson D, Martin L, Weaver KN. Ritter A, et al. Among authors: weaver kn. Am J Med Genet A. 2017 Jun;173(6):1467-1472. doi: 10.1002/ajmg.a.38243. Epub 2017 Apr 24. Am J Med Genet A. 2017. PMID: 28436618

5

Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.

Anderson K, Cnota J, James J, Miller EM, Parrott A, Pilipenko V, Weaver KN, Shikany A. Anderson K, et al. Among authors: weaver kn. Congenit Heart Dis. 2019 Mar;14(2):264-273. doi: 10.1111/chd.12721. Epub 2018 Dec 16. Congenit Heart Dis. 2019. PMID: 30556322

6

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Behrendt CA, Debus ES, von Kodolitsch Y, Powell RJ, Pepin M, Milewicz DM, Lawrence PF, Woo K. Shalhub S, et al. Among authors: weaver kn. J Vasc Surg. 2019 Nov;70(5):1543-1554. doi: 10.1016/j.jvs.2019.01.069. Epub 2019 May 21. J Vasc Surg. 2019. PMID: 31126764 Free PMC article.

7

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: weaver kn. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.

8

Medically actionable comorbidities in adults with Costello syndrome.

Shikany AR, Baker L, Stabley DL, Robbins K, Doyle D, Gripp KW, Weaver KN. Shikany AR, et al. Among authors: weaver kn. Am J Med Genet A. 2020 Jan;182(1):130-136. doi: 10.1002/ajmg.a.61394. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680412

9

Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.

Monteil DC, Shikany A, Aljeaid D, Parrott A, Tretter JT, James J, Martin LJ, Weaver KN. Monteil DC, et al. Among authors: weaver kn. J Pediatr. 2020 Jun;221:188-195.e1. doi: 10.1016/j.jpeds.2020.03.005. J Pediatr. 2020. PMID: 32446479

10

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Among authors: weaver kn. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.

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