Weaver KN - Search Results

1

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.

Weaver KN, Johnson J, Kline-Fath B, Zhang X, Lim FY, Tinkle B, Saal HM, Hopkin RJ. Weaver KN, et al. Prenat Diagn. 2014 Dec;34(13):1326-31. doi: 10.1002/pd.4475. Epub 2014 Aug 26. Prenat Diagn. 2014. PMID: 25102973

2

Variable presentation between a mother and a fetus with Goltz syndrome.

Sellars EA, Wusik K, Weaver KN, Hopkin RJ. Sellars EA, et al. Among authors: weaver kn. Prenat Diagn. 2013 Dec;33(12):1211-3. doi: 10.1002/pd.4216. Epub 2013 Sep 12. Prenat Diagn. 2013. PMID: 23943565 No abstract available.

3

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

4

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.

5

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.

Weaver KN, Wang D, Cnota J, Gardner N, Stabley D, Sol-Church K, Gripp KW, Witte DP, Bove KE, Hopkin RJ. Weaver KN, et al. Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-30. doi: 10.2350/14-05-1488-OA.1. Epub 2014 Aug 18. Pediatr Dev Pathol. 2014. PMID: 25133308 Free PMC article.

6

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Gordon CT, et al. Among authors: weaver kn, weaver dd. Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772936 Free PMC article.

7

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM. Weaver KN, et al. Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23. Am J Hum Genet. 2015. PMID: 25913037 Free PMC article.

8

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Russell BE, et al. Among authors: weaver kn. Mol Genet Genomic Med. 2019 Nov;7(11):e969. doi: 10.1002/mgg3.969. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493347 Free PMC article.

9

Fetal magnetic resonance imaging of skeletal dysplasias.

Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM. Gilligan LA, et al. Among authors: weaver kn. Pediatr Radiol. 2020 Feb;50(2):224-233. doi: 10.1007/s00247-019-04537-8. Epub 2019 Nov 27. Pediatr Radiol. 2020. PMID: 31776601

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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