Kimberly A. Aldinger

University of Southern California, Los Angeles, CA, United States 
"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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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
Gripp KW, Aldinger KA, Bennett JT, et al. (2016) A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics. Part A
Aldinger KA, Doherty D. (2016) The genetics of cerebellar malformations. Seminars in Fetal & Neonatal Medicine
Aldinger KA, Mendelsohn NJ, Chung BH, et al. (2015) Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Journal of Medical Genetics
Aldinger KA, Lane CJ, Veenstra-VanderWeele J, et al. (2015) Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder. Autism Research : Official Journal of the International Society For Autism Research
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