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Fanjul-Fernandez Miriam
Fanjul-Fernandez Miriam
Postdoctoral Researcher, Royal Children's hospital
Dirección de correo verificada de mcri.edu.au
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Matrix metalloproteinases: evolution, gene regulation and functional analysis in mouse models
M Fanjul-Fernández, AR Folgueras, S Cabrera, C López-Otín
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1803 (1), 3-19, 2010
7042010
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome
XS Puente, V Quesada, FG Osorio, R Cabanillas, J Cadiñanos, JM Fraile, ...
The American Journal of Human Genetics 88 (5), 650-656, 2011
2382011
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
JC Sim, T Scerri, M Fanjul‐Fernández, JR Riseley, G Gillies, K Pope, ...
Annals of neurology 79 (1), 132-137, 2016
1452016
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ...
Genetics in Medicine 20 (12), 1554-1563, 2018
1342018
Resistance to bleomycin-induced lung fibrosis in MMP-8 deficient mice is mediated by interleukin-10
E Garcia-Prieto, A Gonzalez-Lopez, S Cabrera, A Astudillo, ...
PloS one 5 (10), e13242, 2010
1122010
Cell–cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas
M Fanjul-Fernández, V Quesada, R Cabanillas, J Cadiñanos, T Fontanil, ...
Nature communications 4 (1), 2531, 2013
892013
Collagenase-2 deficiency or inhibition impairs experimental autoimmune encephalomyelitis in mice
AR Folgueras, A Fueyo, O Garcia-Suarez, J Cox, A Astudillo, P Tortorella, ...
Journal of biological chemistry 283 (14), 9465-9474, 2008
762008
Matrix metalloproteinase Mmp-1a is dispensable for normal growth and fertility in mice and promotes lung cancer progression by modulating inflammatory responses
M Fanjul-Fernández, AR Folgueras, A Fueyo, M Balbín, MF Suárez, ...
Journal of Biological Chemistry 288 (20), 14647-14656, 2013
592013
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ...
Molecular genetics & genomic medicine 8 (11), e1508, 2020
562020
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
TY Tan, S Lunke, B Chong, D Phelan, M Fanjul-Fernandez, JE Marum, ...
European Journal of Human Genetics 27 (12), 1791-1799, 2019
432019
Matrix metalloprotease 1a deficiency suppresses tumor growth and angiogenesis
CJ Foley, M Fanjul-Fernández, A Bohm, N Nguyen, A Agarwal, K Austin, ...
Oncogene 33 (17), 2264-2272, 2014
432014
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
CA Stutterd, S Brock, K Stouffs, M Fanjul-Fernandez, PJ Lockhart, ...
Brain communications 3 (1), fcaa221, 2021
272021
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
R Rius, NJ Van Bergen, AG Compton, LG Riley, MP Kava, ...
Journal of clinical medicine 8 (11), 2020, 2019
232019
Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14
C Stutterd, P Diakumis, M Bahlo, M Fanjul Fernandez, RJ Leventer, ...
Annals of Clinical and Translational Neurology 4 (12), 859-864, 2017
212017
Cerebral hypomyelination associated with biallelic variants of FIG4
GM Lenk, IR Berry, CA Stutterd, M Blyth, L Green, G Vadlamani, D Warren, ...
Human mutation 40 (5), 619-630, 2019
202019
Tracing autism traits in large multiplex families to identify endophenotypes of the broader autism phenotype
KJ Trevis, NJ Brown, CC Green, PJ Lockhart, T Desai, T Vick, V Anderson, ...
International journal of molecular sciences 21 (21), 7965, 2020
92020
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder
K Bozaoglu, Y Gao, E Stanley, M Fanjul-Fernández, NJ Brown, K Pope, ...
Stem cell research 39, 101516, 2019
52019
A family study implicates GBE1 in the etiology of autism spectrum disorder
M Fanjul‐Fernández, NJ Brown, P Hickey, P Diakumis, H Rafehi, ...
Human mutation 43 (1), 16-29, 2022
32022
Matrix Metallopeptidase-19
M Fanjul Fernández, C López Otín
Handbook of Proteolytic Enzymes, 2013
22013
Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease
R Rius, LG Riley, NJ Van Bergen, AG Compton, DJ Amor, MP Kava, ...
European Journal of Human Genetics 27 (Supplement 2), 1352-1354, 2019
2019
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