Kimberly Aldinger, PhD

Academic Title: Assistant Professor

Research Center: Center for Integrative Brain Research, Center for Developmental Biology and Regenerative Medicine

"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. "

• Biography

  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 most 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 has discovered many 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.

  • Related Pages

  • 

    Aldinger Lab

    The Aldinger Lab uses developmental neuroscience and computational approaches to decipher the mechanisms that cause pediatric neurogenetic disorders and pathologies associated with structural brain changes, cognitive impairment, and epilepsy.

• Patient Testimonials

  Be the first to recommend Dr. Kimberly Aldinger

• Publications

  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 Sep 5 : 105(3)606-615 PMCID:PMC6731369
  • 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
  • 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
  • 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

  Other Publications

  • Haldipur P, Millen KJ, Aldinger KA
    Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders.
    35440142 Annual review of neuroscience, 2022 Jul 8 : 45515-531 PMCID:PMC9271632
  • Sydnor LM, Aldinger KA
    Structure, Function, and Genetics of the Cerebellum in Autism.
    36425354 Journal of psychiatry and brain science, 2022 : 7 PMCID:PMC9683352
  • Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D
    NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
    34637754 Molecular cell, 2021 Nov 18 : 81(22)4663-4676.e8 PMCID:PMC8604784
  • Haldipur P, Bernardo S, Aldinger KA, Sivakumar T, Millman J, Sjoboen AH, Dang D, Dubocanin D, Deng M, Timms AE, Davis BD, Plummer JT, Mankad K, Oztekin O, Manganaro L, Guimiot F, Adle-Biassette H, Russo R, Siebert JR, Kidron D, Petrilli G, Roux N, Razavi F, Glass IA, Di Gioia C, Silvestri E, Millen KJ
    Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.
    34347142 Acta neuropathologica, 2021 Oct. : 142(4)761-776 PMCID:PMC8544025
  • Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB
    The spectrum of brain malformations and disruptions in twins.
    33205886 American journal of medical genetics. Part A, 2021 Sept. : 185(9)2690-2718 PMCID:PMC8683564
  • Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O'Day D, Overman LM, Lisgo SN, Alexandre P, Sestan N, Doherty D, Dobyns WB, Seelig G, Glass IA, Millen KJ
    Spatial and cell type transcriptional landscape of human cerebellar development.
    34140698 Nature neuroscience, 2021 Aug. : 24(8)1163-1175 PMCID:PMC8338761
  • Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
    DLG4-related synaptopathy: a new rare brain disorder.
    33597769 Genetics in medicine : official journal of the American College of Medical Genetics, 2021 May : 23(5)888-899
  • Domcke S, Hill AJ, Daza RM, Cao J, O'Day DR, Pliner HA, Aldinger KA, Pokholok D, Zhang F, Milbank JH, Zager MA, Glass IA, Steemers FJ, Doherty D, Trapnell C, Cusanovich DA, Shendure J
    A human cell atlas of fetal chromatin accessibility.
    33184180 Science (New York, N.Y.), 2020 Nov 13 : 370(6518) PMCID:PMC7785298
  • Cao J, O'Day DR, Pliner HA, Kingsley PD, Deng M, Daza RM, Zager MA, Aldinger KA, Blecher-Gonen R, Zhang F, Spielmann M, Palis J, Doherty D, Steemers FJ, Glass IA, Trapnell C, Shendure J
    A human cell atlas of fetal gene expression.
    33184181 Science (New York, N.Y.), 2020 Nov 13 : 370(6518) PMCID:PMC7780123
  • Aldinger KA, Timms AE, MacDonald JW, McNamara HK, Herstein JS, Bammler TK, Evgrafov OV, Knowles JA, Levitt P
    Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.
    32561870 Scientific data, 2020 Jun 19 : 7(1)192 PMCID:PMC7305197
  • Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH
    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
    32135084 Neuron, 2020 May 6 : 106(3)404-420.e8 PMCID:PMC7331285

• Presentations

  Presentation 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/	Jun 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	Sep 19, 2015
  Understanding Dandy-Walker Genetics	Dandy-Walker Alliance Webinar	https://www.youtube.com/watch?v=yITL3Meoh2E