Nicholas J. Cowan

New York University, New York, NY, United States 
Molecular Biology, Biochemistry
"Nicholas Cowan"
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César Milstein grad student MRC-LMB


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Arunashree Bhamidipati grad student 2001 NYU
Francesca Bartolini grad student 2004 NYU
Cyrena T. Simons grad student 2004 NYU
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Tripathy R, Leca I, van Dijk T, et al. (2018) Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron
Luscan R, Mechaussier S, Paul A, et al. (2017) Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. American Journal of Human Genetics. 101: 1006-1012
Edvardson S, Tian G, Cullen H, et al. (2016) Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. Human Molecular Genetics. 25: 4635-4648
Breuss MW, Nguyen T, Srivatsan A, et al. (2016) Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability. Human Molecular Genetics
Tian G, Cristancho AG, Dubbs HA, et al. (2016) A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Molecular Genetics & Genomic Medicine. 4: 599-603
Feng R, Sang Q, Kuang Y, et al. (2016) Mutations in TUBB8 and Human Oocyte Meiotic Arrest. The New England Journal of Medicine. 374: 223-232
Isrie M, Breuss M, Tian G, et al. (2015) Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. American Journal of Human Genetics. 97: 790-800
Tian G, Cowan NJ. (2013) Tubulin-specific chaperones: components of a molecular machine that assembles the α/β heterodimer. Methods in Cell Biology. 115: 155-71
Poirier K, Lebrun N, Broix L, et al. (2013) Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nature Genetics. 45: 639-47
Breuss M, Heng JI, Poirier K, et al. (2012) Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Reports. 2: 1554-62
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