| Year |
Citation |
Score |
| 2023 |
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, ... ... Akizu N, et al. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation. PMID 37962958 DOI: 10.1172/JCI171235 |
0.374 |
|
| 2023 |
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, ... ... Akizu N, et al. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications. 14: 4109. PMID 37433783 DOI: 10.1038/s41467-023-39645-5 |
0.371 |
|
| 2023 |
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, ... Akizu N, et al. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances. 9: eade1463. PMID 36897941 DOI: 10.1126/sciadv.ade1463 |
0.34 |
|
| 2018 |
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, et al. Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology. PMID 30178464 DOI: 10.1002/Ana.25327 |
0.744 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.685 |
|
| 2015 |
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13. PMID 26005868 DOI: 10.1038/Ng.3311 |
0.743 |
|
| 2015 |
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/Ng.3256 |
0.749 |
|
| 2014 |
Petazzi P, Akizu N, García A, Estarás C, Martínez de Paz A, Rodríguez-Paredes M, Martínez-Balbás MA, Huertas D, Esteller M. An increase in MECP2 dosage impairs neural tube formation. Neurobiology of Disease. 67: 49-56. PMID 24657916 DOI: 10.1016/J.Nbd.2014.03.009 |
0.428 |
|
| 2014 |
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, ... ... Akizu N, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/Science.1247363 |
0.737 |
|
| 2014 |
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, et al. Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6. PMID 24360807 DOI: 10.1016/J.Ajhg.2013.11.015 |
0.774 |
|
| 2013 |
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 154: 505-17. PMID 23911318 DOI: 10.1016/J.Cell.2013.07.005 |
0.752 |
|
| 2013 |
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, et al. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400. PMID 23453666 DOI: 10.1016/J.Ajhg.2013.02.004 |
0.676 |
|
| 2013 |
Estarás C, Fueyo R, Akizu N, Beltrán S, Martínez-Balbás MA. RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase. Molecular Biology of the Cell. 24: 351-60. PMID 23243002 DOI: 10.1091/Mbc.E12-07-0561 |
0.306 |
|
| 2012 |
Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain : a Journal of Neurology. 135: 2416-27. PMID 22822038 DOI: 10.1093/Brain/Aws162 |
0.537 |
|
| 2012 |
Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, ... ... Akizu N, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78. PMID 22700954 DOI: 10.1126/scitranslmed.3003544 |
0.703 |
|
| 2011 |
Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 147: 70-9. PMID 21962508 DOI: 10.1016/J.Cell.2011.09.014 |
0.707 |
|
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