Kimberly A. Aldinger

Affiliations: 
University of Southern California, Los Angeles, CA, United States 
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"Kimberly Aldinger"
Mean distance: 15.55 (cluster 11)
 
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Kathleen Millen grad student 2008 Chicago
 (Identification of chromosome 6p25 genes involved in Dandy -Walker malformation: The role of FOXC1 in cerebellar development and implications for cerebellar genes in autism.)
Pat R. Levitt post-doc USC
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Publications

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Kanca O, Andrews JC, Lee PT, et al. (2019) De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics
Roy A, Murphy RM, Deng M, et al. (2019) PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice. Elife. 8
Aldinger KA, Dempsey JC, Tully HM, et al. (2018) Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439
Dobyns WB, Aldinger KA, Ishak GE, et al. (2018) MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics
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
Di Donato N, Timms AE, Aldinger KA, et al. (2018) Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Van De Weghe JC, Rusterholz TDS, Latour B, et al. (2017) Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics
Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics
Haldipur P, Dang D, Aldinger KA, et al. (2017) Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 6
Di Donato N, Jean YY, Maga AM, et al. (2016) Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American Journal of Human Genetics
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