Wilson MJ - Search Results

1

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Alodaib A, et al. Among authors: wilson mj. Eur J Hum Genet. 2017 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19. Eur J Hum Genet. 2017. PMID: 27759031 Free PMC article.

2

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A. McQuade L, et al. Am J Med Genet. 1999 Sep 3;86(1):27-33. Am J Med Genet. 1999. PMID: 10440825

3

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

Neas K, Bennetts B, Carpenter K, White R, Kirk EP, Wilson M, Kelley R, Baric I, Christodoulou J. Neas K, et al. J Inherit Metab Dis. 2005;28(4):525-32. doi: 10.1007/s10545-005-0525-8. J Inherit Metab Dis. 2005. PMID: 15902555

4

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E. Wilson M, et al. Am J Med Genet A. 2008 Jan 15;146A(2):137-48. doi: 10.1002/ajmg.a.32172. Am J Med Genet A. 2008. PMID: 18033734

5

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ. Compton AG, et al. Mitochondrion. 2011 Jan;11(1):104-7. doi: 10.1016/j.mito.2010.07.012. Epub 2010 Aug 12. Mitochondrion. 2011. PMID: 20708716

6

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J. Field M, et al. Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353940 Free PMC article.

7

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. Fehr S, et al. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8. Eur J Hum Genet. 2013. PMID: 22872100 Free PMC article.

8

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL. Alankarage D, et al. Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293987 Free article.

9

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: wilson mj. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.

10

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. Riley LG, et al. Hum Mutat. 2020 Aug;41(8):1425-1434. doi: 10.1002/humu.24050. Hum Mutat. 2020. PMID: 32442335

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