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Page 1
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: fanjul fernandez m. 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.
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Stutterd C, et al. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296614 Free PMC article.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM. Tan TY, et al. Among authors: fanjul fernandez m. Eur J Hum Genet. 2019 Dec;27(12):1791-1799. doi: 10.1038/s41431-019-0471-9. Epub 2019 Jul 18. Eur J Hum Genet. 2019. PMID: 31320747 Free PMC article.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ. Fanjul-Fernández M, et al. Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21. Hum Mutat. 2022. PMID: 34633740 Free PMC article.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Among authors: fanjul fernandez m. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article. Review.
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.
Stutterd CA, Brock S, Stouffs K, Fanjul-Fernandez M, Lockhart PJ, McGillivray G, Mandelstam S, Pope K, Delatycki MB, Jansen A, Leventer RJ. Stutterd CA, et al. Among authors: fanjul fernandez m. Brain Commun. 2020 Dec 26;3(1):fcaa221. doi: 10.1093/braincomms/fcaa221. eCollection 2021. Brain Commun. 2020. PMID: 33604570 Free PMC article.
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: fanjul fernandez m. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Sim JC, et al. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26285051
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance. Stark Z, et al. Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543227 Free article.
20 results