Kimberly Aldinger, PhD

"I've always been fascinated by scientific puzzles, and I'm excited to apply that fascination to genetics and neuroscience. My goal is to understand how genetic changes contribute to neurodevelopmental disorders, and to make discoveries that lead to new therapies. "

  • Kimberly Aldinger, PhD, studies how genes influence brain development, and how those processes malfunction to cause neurodevelopmental disorders.

    She is particularly interested in understanding disorders that affect the cerebellum the part of the brain known for fine-tuning motor movements to enable posture, balance and speech. The cerebellum also plays an important role in the network that controls intellectual and emotional skills, which can be affected when the cerebellum is disconnected from other areas of the brain.

    Through her research, Aldinger is discovering gene mutations that drive neurodevelopmental disorders, and unraveling how previously-discovered mutations influence these disorders and normal brain development.

    Her goal is to contribute to therapies that help children overcome limitations due to genetic and acquired changes during early development.

  • Manuscripts in Refereed Journals

    • Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Razavi F, Silvestri E, Manganaro L, Adle-Biasette H, Guilmiot F, Russo R, Kidron D, Hof PR, Gerrelli D, Lindsay SJ, Dobyns WB, Glass IA, Alexandre P, Millen KJ
      Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
      31624095 Science (New York, N.Y.), 2019 Oct. 25 : 366(6464)454-460
    • Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB
      Redefining the Etiologic Landscape of Cerebellar Malformations.
      31474318 American journal of human genetics, 2019 Sept. 5 : 105(3)606-615 PMCID:PMC6731369
    • Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network., Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV
      De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
      31327508 American journal of human genetics, 2019 Aug. 1 : 105(2)413-424 PMCID:PMC6699142
    • Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw CA, Pardiñas AF, BrainSpan Consortium., PsychENCODE Consortium., PsychENCODE Developmental Subgroup., Hu M, Jin F, Li Y, Owen MJ, O'Donovan MC, Walters JTR, Posthuma D, Reimers MA, Levitt P, Weinberger DR, Hyde TM, Kleinman JE, Geschwind DH, Hawrylycz MJ, State MW, Sanders SJ, Sullivan PF, Gerstein MB, Lein ES, Knowles JA, Sestan N
      Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
      30545854 Science (New York, N.Y.), 2018 Dec. 14 : 362(6420) PMCID:PMC6413317
    • Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, SzczaÅ‚uba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics., Center for Mendelian Genomics at the Broad Institute of MIT and Harvard., Engle EC, Verheijen FW, Doherty D, Mancini GMS
      MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
      30471716 American journal of human genetics, 2018 Dec. 6 : 103(6)1009-1021 PMCID:PMC6288423
    • Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D
      Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
      30580482 American journal of medical genetics. Part C, Seminars in medical genetics, 2018 Dec. : 178(4)432-439 PMCID:PMC6540982
    • Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
      Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
      28625504 American journal of human genetics, 2017 July 6 : 101(1)23-36 PMCID:PMC5501774
    • Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, ÇaÄŸlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
      Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
      28092684 Nature genetics, 2017 March : 49(3)457-464 PMCID:PMC5325768
    • Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ
      Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
      28092268 eLife, 2017 Jan. 16 : 6 PMCID:PMC5271606
    • 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 : 12(11)e1006425
    • 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
    • Aldinger KA, Doherty D
      The genetics of cerebellar malformations.
      27160001 Seminars in fetal and neonatal medicine, 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
    • 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. : 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 : 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. : 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. : 11(3)777-807 PMCID:PMC3677555
    • Aldinger KA, Plummer JT, Qiu S, Levitt P
      SnapShot: genetics of autism.
      22017998 Neuron, 2011 Oct. 20 : 72(2)418-8.e1
    • 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. : 41(9)1037-42 PMCID:PMC2843139
    • 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. : 16(3)155-63 PMCID:PMC2778478

  • Presentations Title Event Location Date
    Solving forgotten disorders: gene discovery for cerebellar malformations GENEWIZ genomic seminar series http://www.genewizweek.com/index.php/webinar-solving-forgotten-disorders/ 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

Overview

Medical/Professional School

University of Chicago, Chicago

Fellowship

University of Southern California, Los Angeles

Research Description

Dr. Aldinger's research investigates how the brain develops normally and how brain development can be impacted by genetic or non-genetic factors. She investigates how molecular pathways affect development of the cerebellum. Her goals are to: (1) identify genetic causes and cell-types affected that lead to cerebellar malformations, (2) define the molecular profiles of cells in the developing cerebellum, and (3) evaluate the relationships between neurodevelopmental disorders, clinical features, and cerebellar dysfunction.

Research Focus Area

Neuroscience / Neurodevelopment, Autism Spectrum Disorders, Genomics, Genetics and Developmental Biology