| 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 | 731 | 2010 |
| 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 | 250 | 2011 |
| 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 | 152 | 2016 |
| 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 | 151 | 2018 |
| 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 | 119 | 2010 |
| 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 | 96 | 2013 |
| 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 | 86 | 2020 |
| 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 | 76 | 2008 |
| 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 | 58 | 2013 |
| 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 | 57 | 2019 |
| 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 | 47 | 2014 |
| 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 | 36 | 2021 |
| 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 | 33 | 2019 |
| 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 | 25 | 2019 |
| 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 | 23 | 2017 |
| 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 | 10 | 2020 |
| 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 | 5 | 2019 |
| 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 | 4 | 2022 |
| Matrix Metallopeptidase-19 M Fanjul Fernández, C López Otín Handbook of Proteolytic Enzymes, 2013 | 2 | 2013 |
| 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 |
