Kimberly Aldinger, PhD

Kimberly Aldinger, PhD

Research Center: Center for Integrative Brain Research

  • Dr. Aldinger is a neuroscientist and a geneticist. She integrates clinical and genetic data to advance our understanding of neurodevelopmental disorders, especially Dandy-Walker and related cerebellar malformations, Rett syndrome, autism, and epilepsy.

    In particular, Dr. Aldinger is interested in addressing the following two questions: (1) How does genetic variation impact neurodevelopment and dysfunction, especially for the cerebellum? and (2) How does genetic variation contribute to variability in disease presentation and severity? Her current research investigates the molecular mechanisms of neurodevelopmental disorders, the genetic causes of cerebellar malformations, and the relationship between cerebellar development and autism.

    • Mitra I, Tsang K, Ladd-Acosta C, Croen LA, Aldinger KA, Hendren RL, Traglia M, Lavillaureix A, Zaitlen N, Oldham MC, Levitt P, Nelson S, Amaral DG, Herz-Picciotto I, Fallin MD, Weiss LA
      Pleiotropic Mechanisms Indicated for Sex Differences in Autism.
      27846226 PLoS genetics , 2016 Nov. 15 - 2016 Nov. 15 : 12(11)e1006425
    • Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN
      Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
      27773430 American journal of human genetics , 2016 Nov. 3 - 2016 Nov. 3 : 99(5)1117-1129 PMCID: PMC5097945
    • Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB
      A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
      27264673 American journal of medical genetics. Part A , 2016 June 5 - 2016 June 5
    • Aldinger KA, Doherty D
      The genetics of cerebellar malformations.
      27160001 Seminars in fetal and neonatal medicine , 2016 May 6 - 2016 May 6
    • Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ
      Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
      26671912 Journal of medical genetics , 2015 Dec. 15 - 2015 Dec. 15
    • Aldinger KA, Lane CJ, Veenstra-VanderWeele J, Levitt P
      Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder.
      26011086 Autism research : official journal of the International Society for Autism Research , 2015 Dec. - 2015 Dec. : 8(6)771-81
    • Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D
      Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
      25105227 American journal of human genetics , 2014 Aug. 7 - 2014 Aug. 7 : 95(2)227-34 PMCID: PMC4129402
    • Plummer JT, Evgrafov OV, Bergman MY, Friez M, Haiman CA, Levitt P, Aldinger KA
      Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
      24150225 Translational Psychiatry , 2013 Oct. 22 : 3e316 PMCID: PMC3818007
    • Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB
      Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
      23225497 American journal of medical genetics. Part A , 2013 Jan. - 2013 Jan. : 161A(1)131-6 PMCID: PMC3733662
    • Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP
      Consensus paper: pathological role of the cerebellum in autism.
      22370873 Cerebellum (London, England) , 2012 Sept. - 2012 Sept. : 11(3)777-807 PMCID: PMC3677555
    • Aldinger KA, Plummer JT, Qiu S, Levitt P
      SnapShot: genetics of autism.
      22017998 Neuron , 2011 Oct. 20 - 2011 Oct. 20 : 72(2)418-8.e1
    • Aldinger KA, Elsen GE, Prince VE, Millen KJ
      Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.
      19778712 Seminars in pediatric neurology , 2009 Sept. - 2009 Sept. : 16(3)155-63 PMCID: PMC2778478
    • Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ
      FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
      19668217 Nature genetics , 2009 Sept. - 2009 Sept. : 41(9)1037-42 PMCID: PMC2843139

  • Presentations Title Event Location Date
    Solving forgotten disorders: gene discovery for cerebellar malformations GENEWIZ genomic seminar series June 16, 2016
    Advances in autism research brought to you by the letters A, C, T, and G Bainbridge Library Program on Childhood Brain Development Bainbridge, WA Sept. 19, 2015


Medical/Professional School

University of Chicago, Chicago


University of Southern California, Los Angeles