Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 557 | 2014 |
Exome sequencing can improve diagnosis and alter patient management TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ... Science translational medicine 4 (138), 138ra78-138ra78, 2012 | 293 | 2012 |
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 230 | 2015 |
Modeling human disease in humans: the ciliopathies G Novarino, N Akizu, JG Gleeson Cell 147 (1), 70-79, 2011 | 178 | 2011 |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 137 | 2015 |
Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program C Estarás, N Akizu, A García, S Beltrán, X de la Cruz, MA Martínez-Balbás Development 139 (15), 2681-2691, 2012 | 120 | 2012 |
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder N Akizu, V Cantagrel, J Schroth, N Cai, K Vaux, D McCloskey, ... Cell 154 (3), 505-517, 2013 | 112 | 2013 |
H3K27me3 regulates BMP activity in developing spinal cord N Akizu, C Estarás, L Guerrero, E Martí, MA Martínez-Balbás Development 137 (17), 2915-2925, 2010 | 102 | 2010 |
Mutations in CSPP1 lead to classical Joubert syndrome N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ... The American Journal of Human Genetics 94 (1), 80-86, 2014 | 91 | 2014 |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 84 | 2017 |
RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase C Estarás, R Fueyo, N Akizu, S Beltrán, MA Martínez-Balbás Molecular biology of the cell 24 (3), 351-360, 2013 | 56 | 2013 |
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia N Akizu, NM Shembesh, T Ben-Omran, L Bastaki, A Al-Tawari, MS Zaki, ... The American Journal of Human Genetics 92 (3), 392-400, 2013 | 34 | 2013 |
Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation MS Zaki, SN Saleem, WB Dobyns, AJ Barkovich, H Bartsch, AM Dale, ... Brain 135 (8), 2416-2427, 2012 | 34 | 2012 |
EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21 N Akizu, MA García, C Estarás, R Fueyo, C Badosa, X de la Cruz, ... Open biology 6 (4), 150227, 2016 | 33 | 2016 |
An increase in MECP2 dosage impairs neural tube formation P Petazzi, N Akizu, A García, C Estarás, AM de Paz, ... Neurobiology of Disease 67, 49-56, 2014 | 28 | 2014 |
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome A Guemez‐Gamboa, AO Çağlayan, V Stanley, A Gregor, MS Zaki, ... Annals of neurology 84 (5), 638-647, 2018 | 25 | 2018 |
Multimerization of Zika Virus-NS5 causes ciliopathy and forces premature neurogenesis M Saade, DS Ferrero, J Blanco-Ameijeiras, E Gonzalez-Gobartt, ... Cell Stem Cell 27 (6), 920-936. e8, 2020 | 21 | 2020 |
Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation S Sánchez-Molina, C Estarás, JL Oliva, N Akizu, E Asensio-Juan, ... Carcinogenesis 35 (10), 2194-2202, 2014 | 20 | 2014 |
EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal N Akizu, MA Martínez-Balbás Neurogenesis 3 (1), e1250034, 2016 | 14 | 2016 |
Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails S Lois, N Akizu, GM de Xaxars, I Vázquez, M Martínez-Balbás, ... Epigenetics 5 (2), 137-148, 2010 | 7 | 2010 |