Simpson MA - Search Results

1

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA. Onoufriadis A, et al. Among authors: simpson ma. JAMA Dermatol. 2019 Feb 1;155(2):257-259. doi: 10.1001/jamadermatol.2018.4665. JAMA Dermatol. 2019. PMID: 30586144 No abstract available.

2

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: simpson ma. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381

3

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Onoufriadis A, et al. Among authors: simpson ma. Am J Hum Genet. 2011 Sep 9;89(3):432-7. doi: 10.1016/j.ajhg.2011.07.022. Epub 2011 Aug 11. Am J Hum Genet. 2011. PMID: 21839423 Free PMC article.

4

Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene.

Onoufriadis A, Simpson MA, Burden AD, Barker JN, Trembath RC, Capon F. Onoufriadis A, et al. Among authors: simpson ma. J Invest Dermatol. 2012 Apr;132(4):1297-9. doi: 10.1038/jid.2011.431. Epub 2011 Dec 29. J Invest Dermatol. 2012. PMID: 22205304 Free article. No abstract available.

5

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: simpson ma. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.

6

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

Lai-Cheong JE, Sethuraman G, Ramam M, Stone K, Simpson MA, McGrath JA. Lai-Cheong JE, et al. Among authors: simpson ma. Br J Dermatol. 2012 Aug;167(2):440-2. doi: 10.1111/j.1365-2133.2012.11115.x. Br J Dermatol. 2012. PMID: 22835024

7

Next-generation diagnostics for genodermatoses.

Cho RJ, Simpson MA, McGrath JA. Cho RJ, et al. Among authors: simpson ma. J Invest Dermatol. 2012 Nov 15;132(E1):E27-8. doi: 10.1038/skinbio.2012.8. J Invest Dermatol. 2012. PMID: 23154629 Free article. Review. No abstract available.

8

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. McGrath JA, et al. Among authors: simpson ma. Am J Hum Genet. 2012 Dec 7;91(6):1115-21. doi: 10.1016/j.ajhg.2012.10.012. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176819 Free PMC article.

9

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Krunic AL, Stone KL, Simpson MA, McGrath JA. Krunic AL, et al. Among authors: simpson ma. Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28. Pediatr Dermatol. 2013. PMID: 23534700

10

Next generation diagnostics of heritable connective tissue disorders.

Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Salam A, et al. Among authors: simpson ma. Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Matrix Biol. 2014. PMID: 23896220 Free article. Review.

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