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Yin, Jiani; Chen, Wu; Chao, Eugene S et al. (2018) Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Am J Hum Genet 102:296-308
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Jewell, Brittany E; Liu, Mo; Lu, Linchao et al. (2018) Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation. Stem Cell Res 33:36-40
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Lackey, Elizabeth P; Heck, Detlef H; Sillitoe, Roy V (2018) Recent advances in understanding the mechanisms of cerebellar granule cell development and function and their contribution to behavior. F1000Res 7:
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Pandey, Ashutosh; Li-Kroeger, David; Sethi, Maya K et al. (2018) Sensitized genetic backgrounds reveal differential roles for EGF repeat xylosyltransferases in Drosophila Notch signaling. Glycobiology 28:849-859
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Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
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van der Heijden, Meike E; Zoghbi, Huda Y (2018) Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice. Elife 7:
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Al-Ramahi, Ismael; Lu, Boxun; Di Paola, Simone et al. (2018) High-Throughput Functional Analysis Distinguishes Pathogenic, Nonpathogenic, and Compensatory Transcriptional Changes in Neurodegeneration. Cell Syst 7:28-40.e4
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Apps, Richard; Hawkes, Richard; Aoki, Sho et al. (2018) Cerebellar Modules and Their Role as Operational Cerebellar Processing Units. Cerebellum :
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Li-Kroeger, David; Kanca, Oguz; Lee, Pei-Tseng et al. (2018) An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila. Elife 7:
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Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle et al. (2018) Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet 102:494-504
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