Leo PJ - Search Results

1

Point mutation in p14^ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

McInerney-Leo AM, Wheeler L, Sturm RA, Tan JM, Harris JE, Anderson L, Jagirdar K, Brown MA, Leo PJ, Soyer HP, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Br J Dermatol. 2018 Apr;178(4):e263-e264. doi: 10.1111/bjd.16275. Epub 2018 Feb 19. Br J Dermatol. 2018. PMID: 29278422 No abstract available.

2

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo AM, Duncan EL, Leo PJ, Gardiner B, Bradbury LA, Harris JE, Clark GR, Brown MA, Zankl A. McInerney-Leo AM, et al. Among authors: leo pj. Clin Genet. 2015 Jul;88(1):49-55. doi: 10.1111/cge.12440. Epub 2014 Aug 15. Clin Genet. 2015. PMID: 24891183

3

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

Johnson SR, Leo PJ, McInerney-Leo AM, Anderson LK, Marshall M, McGown I, Newell F, Brown MA, Conwell LS, Harris M, Duncan EL. Johnson SR, et al. Among authors: leo pj. Pediatr Diabetes. 2018 Jun;19(4):656-662. doi: 10.1111/pedi.12638. Epub 2018 Feb 8. Pediatr Diabetes. 2018. PMID: 29417725

4

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27038415

5

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422394

6

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

McInerney-Leo AM, West J, Wheeler L, Leo PJ, Summers KM, Anderson L, Brown MA, West M, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Mol Genet Genomic Med. 2020 Mar;8(3):e1116. doi: 10.1002/mgg3.1116. Epub 2020 Jan 16. Mol Genet Genomic Med. 2020. PMID: 31950671 Free PMC article.

7

Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.

McInerney-Leo AM, Chew HY, Inglis PL, Leo PJ, Joseph SR, Cooper CL, Okano S, Hassall T, Anderson LK, Bowman RV, Gattas M, Harris JE, Marshall MS, Shaw JG, Wheeler L, Yang IA, Brown MA, Fong KM, Simpson F, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mol Genet. 2021 Nov 30;30(24):2393-2401. doi: 10.1093/hmg/ddab172. Hum Mol Genet. 2021. PMID: 34274969 Free PMC article.

8

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17. Clin Genet. 2015. PMID: 25492405

9

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33. doi: 10.1111/cen.12331. Epub 2013 Oct 25. Clin Endocrinol (Oxf). 2014. PMID: 24102379

10

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24. Hum Mol Genet. 2015. PMID: 25343988

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