Smith MJ - Search Results

1

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Among authors: smith mj. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.

2

SMARCB1 mutations are not a common cause of multiple meningiomas.

Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG. Hadfield KD, et al. Among authors: smith mj. J Med Genet. 2010 Aug;47(8):567-8. doi: 10.1136/jmg.2009.075721. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472658

3

Isolated unilateral vestibular schwannomas do not harbor HRAS mutations.

Smith MJ, Hadfield KD, Ramsden RT, Rutherford SA, King AT, Newman WG, Evans DG. Smith MJ, et al. Am J Med Genet A. 2010 Jun;152A(6):1586-7. doi: 10.1002/ajmg.a.33409. Am J Med Genet A. 2010. PMID: 20503341 No abstract available.

4

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.

Hadfield KD, Smith MJ, Urquhart JE, Wallace AJ, Bowers NL, King AT, Rutherford SA, Trump D, Newman WG, Evans DG. Hadfield KD, et al. Among authors: smith mj. Oncogene. 2010 Nov 25;29(47):6216-21. doi: 10.1038/onc.2010.363. Epub 2010 Aug 23. Oncogene. 2010. PMID: 20729918

5

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG. Smith MJ, et al. Am J Med Genet A. 2012 Jan;158A(1):215-9. doi: 10.1002/ajmg.a.34376. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105938

6

Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al.

Prescott TE, Smith MJ, Evans DG. Prescott TE, et al. Among authors: smith mj. Neurogenetics. 2012 Feb;13(1):103-4. doi: 10.1007/s10048-011-0309-2. Epub 2011 Dec 28. Neurogenetics. 2012. PMID: 22203059 No abstract available.

7

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Smith MJ, O'Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du Plessis D, Newman WG, Evans DG. Smith MJ, et al. Nat Genet. 2013 Mar;45(3):295-8. doi: 10.1038/ng.2552. Epub 2013 Feb 3. Nat Genet. 2013. PMID: 23377182

8

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG. Bholah Z, et al. Among authors: smith mj. Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9. Fam Cancer. 2014. PMID: 24659465

9

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

Yasar B, Byers HJ, Smith MJ, Lear J, Oudit D, Bholah Z, Roberts SA, Newman WG, Evans DG. Yasar B, et al. Among authors: smith mj. Eur J Hum Genet. 2015 May;23(5):708-10. doi: 10.1038/ejhg.2014.167. Epub 2014 Aug 27. Eur J Hum Genet. 2015. PMID: 25159867 Free PMC article.

10

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.

Raffalli-Ebezant H, Rutherford SA, Stivaros S, Kelsey A, Smith M, Evans DG, Kilday JP. Raffalli-Ebezant H, et al. Childs Nerv Syst. 2015 Mar;31(3):441-7. doi: 10.1007/s00381-014-2558-5. Epub 2014 Sep 24. Childs Nerv Syst. 2015. PMID: 25249420

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