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Parental health spillover effects of paediatric rare genetic conditions.
Wu Y, Al-Janabi H, Mallett A, Quinlan C, Scheffer IE, Howell KB, Christodoulou J, Leventer RJ, Lockhart PJ, Stark Z, Boughtwood T, Goranitis I. Wu Y, et al. Among authors: christodoulou j. Qual Life Res. 2020 Sep;29(9):2445-2454. doi: 10.1007/s11136-020-02497-3. Epub 2020 Apr 7. Qual Life Res. 2020. PMID: 32266555
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Hynes K, et al. Among authors: christodoulou j. J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752159
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: christodoulou j. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: christodoulou j. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN. Stark Z, et al. Among authors: christodoulou j. Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003. Am J Hum Genet. 2019. PMID: 31271757 Free PMC article.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Among authors: christodoulou j. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953 Free PMC article.
Clinical genomic testing: what matters to key stakeholders?
Best S, Stark Z, Phillips P, Wu Y, Long JC, Taylor N, Braithwaite J, Christodoulou J, Goranitis I. Best S, et al. Among authors: christodoulou j. Eur J Hum Genet. 2020 Jul;28(7):866-873. doi: 10.1038/s41431-020-0576-1. Epub 2020 Feb 5. Eur J Hum Genet. 2020. PMID: 32024983 Free PMC article.
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Dong X, et al. Among authors: christodoulou j. Am J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197075 Free PMC article.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA. Tan TY, et al. Among authors: christodoulou j. Am J Hum Genet. 2020 Apr 2;106(4):467-483. doi: 10.1016/j.ajhg.2020.02.015. Epub 2020 Mar 26. Am J Hum Genet. 2020. PMID: 32220291 Free PMC article.
570 results