Mordaunt DA - Search Results

1

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L. Forrest CE, et al. Among authors: mordaunt da. Pediatr Dermatol. 2016 May;33(3):337-42. doi: 10.1111/pde.12841. Epub 2016 Apr 4. Pediatr Dermatol. 2016. PMID: 27041546 Review.

2

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

Diets IJ, Waanders E, Ligtenberg MJ, van Bladel DAG, Kamping EJ, Hoogerbrugge PM, Hopman S, Olderode-Berends MJ, Gerkes EH, Koolen DA, Marcelis C, Santen GW, van Belzen MJ, Mordaunt D, McGregor L, Thompson E, Kattamis A, Pastorczak A, Mlynarski W, Ilencikova D, van Silfhout AV, Gardeitchik T, de Bont ES, Loeffen J, Wagner A, Mensenkamp AR, Kuiper RP, Hoogerbrugge N, Jongmans MC. Diets IJ, et al. Among authors: mordaunt d. Clin Cancer Res. 2018 Apr 1;24(7):1594-1603. doi: 10.1158/1078-0432.CCR-17-1725. Epub 2018 Jan 19. Clin Cancer Res. 2018. PMID: 29351919

3

Sharing (data) is caring for patients with pachyonychia congenita.

Mordaunt DA. Mordaunt DA. Br J Dermatol. 2020 Mar;182(3):537. doi: 10.1111/bjd.18850. Epub 2020 Jan 20. Br J Dermatol. 2020. PMID: 31960408 No abstract available.

4

8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?

Mordaunt D, Oftedal BE, McLauchlan A, Coates D, Waters W, Scott H, Barnett C. Mordaunt D, et al. Pediatr Neurol. 2015 Feb;52(2):230-4.e1. doi: 10.1016/j.pediatrneurol.2014.09.002. Epub 2014 Oct 13. Pediatr Neurol. 2015. PMID: 25693585

5

Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Mordaunt DA, Savaririyan R. Mordaunt DA, et al. Hum Mutat. 2015 Mar;36(3):388. doi: 10.1002/humu.22753. Hum Mutat. 2015. PMID: 25771764 No abstract available.

6

HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity.

Mordaunt DA, McLauchlan A. Mordaunt DA, et al. Clin Genet. 2015 Jul;88(1):98. doi: 10.1111/cge.12588. Epub 2015 Apr 10. Clin Genet. 2015. PMID: 25800122 No abstract available.

7

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S. Mordaunt DA, et al. Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899669 Review.

8

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Mordaunt DA, McIntyre LC, Salvemini H, Ibrahim A, Bratkovic D, Ketteridge D, Scott HS, Kassahn KS, Smith N. Mordaunt DA, et al. Am J Med Genet A. 2015 Nov;167A(11):2697-701. doi: 10.1002/ajmg.a.37161. Epub 2015 Aug 20. Am J Med Genet A. 2015. PMID: 26289840

9

Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia.

Mordaunt DA, Stark Z, Santos Gonzalez F, Dalziel K, Goranitis I. Mordaunt DA, et al. BMJ Open. 2023 Nov 29;13(11):e069441. doi: 10.1136/bmjopen-2022-069441. BMJ Open. 2023. PMID: 38030253 Free PMC article.

10

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Mordaunt DA, Savarirayan R. Mordaunt DA, et al. Hum Mutat. 2016 Mar;37(3):324. doi: 10.1002/humu.22937. Epub 2016 Jan 11. Hum Mutat. 2016. PMID: 26866824 No abstract available.

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