Debra Prosser - Search Results

Year	Number of Results
2013	3
2014	2
2015	4
2016	3
2017	2
2019	2
2020	1
2021	1
2022	1
2024	0

1

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Glass GE, Mohammedali S, Sivakumar B, Stotland MA, Abdulkader F, Prosser DO, Love DR. Glass GE, et al. Among authors: prosser do. BMC Pediatr. 2022 Dec 30;22(1):745. doi: 10.1186/s12887-022-03803-3. BMC Pediatr. 2022. PMID: 36581828 Free PMC article. Review.

2

Observations on the Natural History of Camurati-Engelmann Disease.

Hughes P, Hassan I, Que L, Mead P, Lee JH, Love DR, Prosser DO, Cundy T. Hughes P, et al. Among authors: prosser do. J Bone Miner Res. 2019 May;34(5):875-882. doi: 10.1002/jbmr.3670. Epub 2019 Feb 19. J Bone Miner Res. 2019. PMID: 30690794 Free article.

3

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, Ata M, Aamer W, Prosser D, Habib T, Chin-Smith E, Al-Darwish K, Zhang Q, Al-Shakaki A, Robay A, Crystal RG, Fakhro K, Al-Naimi A, Al Maslamani E, Tuffaha A, Janahi I, Janahi M, Love DR, Karim MY, Lo B, Hassan A, Adeli M, Marr N. Guennoun A, et al. Among authors: prosser d. J Clin Immunol. 2021 Nov;41(8):1839-1852. doi: 10.1007/s10875-021-01115-2. Epub 2021 Aug 24. J Clin Immunol. 2021. PMID: 34427831 Free PMC article.

4

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO. Nickerson SL, et al. Among authors: prosser do. J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15. J Pediatr Genet. 2016. PMID: 27617160 Free PMC article.

5

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.

Winbo A, Earle N, Marcondes L, Crawford J, Prosser DO, Love DR, Merriman TR, Cadzow M, Stiles R, Donoghue T, Stiles MK, Hayes I, Skinner JR. Winbo A, et al. Among authors: prosser do. Heart Rhythm. 2020 Aug;17(8):1304-1311. doi: 10.1016/j.hrthm.2020.03.015. Epub 2020 Mar 27. Heart Rhythm. 2020. PMID: 32229296

6

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R, Prosser DO, Love DR. Tang R, et al. Among authors: prosser do. Adv Bioinformatics. 2016;2016:5614058. doi: 10.1155/2016/5614058. Epub 2016 May 24. Adv Bioinformatics. 2016. PMID: 27313609 Free PMC article.

7

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: prosser do. J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497564

8

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.

Brown A, Zamanpoor M, Love DR, Prosser DO. Brown A, et al. Among authors: prosser do. Sultan Qaboos Univ Med J. 2019 Nov;19(4):e324-e334. doi: 10.18295/squmj.2019.19.04.008. Epub 2019 Dec 22. Sultan Qaboos Univ Med J. 2019. PMID: 31897316 Free PMC article.

9

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS, Stuckey A, Belluoccio D, Fan V, Skinner JR, Prosser DO, Love DR. Leong IUS, et al. Among authors: prosser do. Med Sci (Basel). 2017 Oct 10;5(4):22. doi: 10.3390/medsci5040022. Med Sci (Basel). 2017. PMID: 29099038 Free PMC article.

10

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Leong IUS, Dryland PA, Prosser DO, Lai SW, Graham M, Stiles M, Crawford J, Skinner JR, Love DR. Leong IUS, et al. Among authors: prosser do. J Clin Med Res. 2017 Aug;9(8):709-718. doi: 10.14740/jocmr2894w. Epub 2017 Jul 1. J Clin Med Res. 2017. PMID: 28725320 Free PMC article.

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