M. Fanjul-Fernández

发表

Matrix metalloprotease 1a deficiency suppresses tumor growth and angiogenesis

C. López-Otín, A. Bohm, A. Agarwal, 2014, Oncogene.

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

N. Brown, P. Lockhart, I. Scheffer, 2019, bioRxiv.

Matrix Metalloproteinase Mmp-1a Is Dispensable for Normal Growth and Fertility in Mice and Promotes Lung Cancer Progression by Modulating Inflammatory Responses*

M. S. Fernández-García, C. López-Otín, J. Freije, 2013, The Journal of Biological Chemistry.

Cell–cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas

Víctor Quesada, Carlos López-Otín, Santiago Cal, 2013, Nature Communications.

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

M. Cowley, G. Enns, Meredith Wilson, 2019, Journal of clinical medicine.

A family study implicates GBE1 in the etiology of autism spectrum disorder

Bradley P. Coe, B. Coe, N. Brown, 2021, Human mutation.

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.

V. Quesada, X. Puente, Diana A. Puente, 2011, American journal of human genetics.

Matrix metalloproteinases: evolution, gene regulation and functional analysis in mouse models.

C. López-Otín, A. R. Folgueras, M. Fanjul-Fernández, 2010, Biochimica et biophysica acta.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

N. Brown, N. Thorne, D. Phelan, 2019, European Journal of Human Genetics.

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Melbourne Genomics Health Alliance, Natalie B Tan, D. Phelan, 2018, Genetics in Medicine.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

P. Lockhart, P. Crino, M. Bahlo, 2015, Annals of neurology.

Resistance to Bleomycin-Induced Lung Fibrosis in MMP-8 Deficient Mice Is Mediated by Interleukin-10

X. Puente, C. López-Otín, A. Gutiérrez-Fernández, 2010, PloS one.

Collagenase-2 Deficiency or Inhibition Impairs Experimental Autoimmune Encephalomyelitis in Mice*

C. López-Otín, A. Gutiérrez-Fernández, C. Overall, 2008, Journal of Biological Chemistry.