Stephanie L. Bielas, Ph.D.

2007 Biology University of California, San Diego, La Jolla, CA 
"Stephanie Bielas"
Mean distance: 26716.5


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Joseph G. Gleeson post-doc 2012 University of Michigan
 (Investigating brain development with forward and reverse genetics.)
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Rosti RO, Sotak BN, Bielas SL, et al. (2017) Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics
Kc R, Srivastava A, Wilkowski JM, et al. (2016) Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection. Scientific Reports. 6: 32048
Li H, Bielas SL, Zaki MS, et al. (2016) Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics
Srivastava A, Ritesh KC, Tsan YC, et al. (2015) De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome. Human Molecular Genetics
Baek ST, Kerjan G, Bielas SL, et al. (2014) Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 82: 1255-62
Dixon-Salazar TJ, Silhavy JL, Udpa N, et al. (2012) Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78
Lee JH, Silhavy JL, Lee JE, et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9
Lee JE, Silhavy JL, Zaki MS, et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9
Abdel Aleem A, Abu-Shahba N, Swistun D, et al. (2011) Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. European Journal of Medical Genetics. 54: 82-5
Cantagrel V, Lefeber DJ, Ng BG, et al. (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17
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