Kimberly A. Aldinger - Publications

Affiliations: 
University of Southern California, Los Angeles, CA, United States 

52 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 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, et al. The spectrum of brain malformations and disruptions in twins. American Journal of Medical Genetics. Part A. PMID 33205886 DOI: 10.1002/ajmg.a.61972  0.72
2020 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, et al. A human cell atlas of fetal gene expression. Science (New York, N.Y.). 370. PMID 33184181 DOI: 10.1126/science.aba7721  0.96
2020 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, et al. A human cell atlas of fetal chromatin accessibility. Science (New York, N.Y.). 370. PMID 33184180 DOI: 10.1126/science.aba7612  0.96
2020 Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, et al. Genotype-phenotype correlation at codon 1740 of SETD2. American Journal of Medical Genetics. Part A. PMID 32710489 DOI: 10.1002/ajmg.a.61724  0.72
2020 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. Scientific Data. 7: 192. PMID 32561870 DOI: 10.1038/s41597-020-0527-2  0.32
2020 Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, ... ... Aldinger KA, et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Reports. 31: 107489. PMID 32268104 DOI: 10.1016/j.celrep.2020.03.053  0.6
2020 Roy A, Deng M, Aldinger KA, Glass IA, Millen KJ. Laser Capture Micro-dissection (LCM) of Neonatal Mouse Forebrain for RNA Isolation. Bio-Protocol. 10. PMID 32190713  0.64
2019 Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31723249 DOI: 10.1038/s41436-019-0693-9  0.4
2019 Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31643139 DOI: 10.1002/ajmg.c.31746  0.72
2019 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, et al. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science (New York, N.Y.). 366: 454-460. PMID 31624095 DOI: 10.1126/science.aax7526  0.72
2019 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, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/j.ajhg.2019.07.017  0.72
2019 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, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/j.ajhg.2019.07.019  0.96
2019 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, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/j.ajhg.2019.06.014  0.72
2019 Roy A, Murphy RM, Deng M, MacDonald JW, Bammler TK, Aldinger KA, Glass IA, Millen KJ. PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice. Elife. 8. PMID 31094678 DOI: 10.7554/eLife.45961  0.64
2018 Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439. PMID 30580482 DOI: 10.1002/ajmg.c.31666  0.96
2018 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, et al. 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. PMID 30471716 DOI: 10.1016/j.ajhg.2018.10.019  0.96
2018 Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, ... ... Aldinger KA, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/j.neuron.2018.10.044  0.72
2018 Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, Gleeson JG, et al. 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. PMID 29671837 DOI: 10.1038/gim.2018.8  0.72
2017 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, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/j.ajhg.2017.05.010  0.96
2017 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, ... ... Aldinger KA, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/ng.3762  0.72
2017 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. Elife. 6. PMID 28092268 DOI: 10.7554/eLife.20898  0.72
2016 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, ... ... Aldinger KA, et al. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American Journal of Human Genetics. PMID 27773430 DOI: 10.1016/j.ajhg.2016.09.010  0.72
2016 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. American Journal of Medical Genetics. Part A. PMID 27264673 DOI: 10.1002/ajmg.a.37781  0.72
2016 Aldinger KA, Doherty D. The genetics of cerebellar malformations. Seminars in Fetal & Neonatal Medicine. PMID 27160001 DOI: 10.1016/j.siny.2016.04.008  0.96
2015 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. Journal of Medical Genetics. PMID 26671912 DOI: 10.1136/jmedgenet-2015-103476  0.72
2015 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. Autism Research : Official Journal of the International Society For Autism Research. PMID 26011086 DOI: 10.1002/aur.1492  0.72
2015 Shih EK, Sekerková G, Ohtsuki G, Aldinger KA, Chizhikov VV, Hansel C, Mugnaini E, Millen KJ. The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype. Cerebellum (London, England). 14: 292-307. PMID 25626522 DOI: 10.1007/s12311-014-0640-x  0.72
2014 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, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics. 95: 227-34. PMID 25105227 DOI: 10.1016/j.ajhg.2014.07.007  0.72
2013 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. Translational Psychiatry. 3: e316. PMID 24150225 DOI: 10.1038/tp.2013.91  0.72
2013 Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/humu.22351  0.72
2013 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. American Journal of Medical Genetics. Part A. 161: 131-6. PMID 23225497 DOI: 10.1002/ajmg.a.35700  0.72
2012 Qiu S, Aldinger KA, Levitt P. Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions. Developmental Neuroscience. 34: 88-100. PMID 22572629 DOI: 10.1159/000336644  0.72
2012 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, et al. Consensus paper: pathological role of the cerebellum in autism. Cerebellum (London, England). 11: 777-807. PMID 22370873 DOI: 10.1007/s12311-012-0355-9  0.72
2011 Aldinger KA, Plummer JT, Qiu S, Levitt P. SnapShot: genetics of autism. Neuron. 72: 418-8.e1. PMID 22017998 DOI: 10.1016/j.neuron.2011.10.007  0.72
2011 Chung SH, Marzban H, Aldinger K, Dixit R, Millen K, Schuurmans C, Hawkes R. Zac1 plays a key role in the development of specific neuronal subsets in the mouse cerebellum. Neural Development. 6: 25. PMID 21592321 DOI: 10.1186/1749-8104-6-25  0.72
2010 Reese J, Aldinger KA, Dobyns WB, Gripp KW. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. American Journal of Medical Genetics. Part A. 152: 2727-30. PMID 20949603 DOI: 10.1002/ajmg.a.33545  0.72
2010 Swanson DJ, Steshina EY, Wakenight P, Aldinger KA, Goldowitz D, Millen KJ, Chizhikov VV. Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele. The European Journal of Neuroscience. 32: 707-16. PMID 20722722 DOI: 10.1111/j.1460-9568.2010.07330.x  0.72
2010 Chizhikov VV, Lindgren AG, Mishima Y, Roberts RW, Aldinger KA, Miesegaes GR, Currle DS, Monuki ES, Millen KJ. Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem. Proceedings of the National Academy of Sciences of the United States of America. 107: 10725-30. PMID 20498066 DOI: 10.1073/pnas.0910786107  0.72
2010 Aldinger KA, Qiu S. New mouse genetic model duplicates human 15q11-13 autistic phenotypes, or does it? Disease Models & Mechanisms. 3: 3-4. PMID 20075373 DOI: 10.1242/dmm.004663  0.72
2010 Petryshen TL, Sabeti PC, Aldinger KA, Fry B, Fan JB, Schaffner SF, Waggoner SG, Tahl AR, Sklar P. Population genetic study of the brain-derived neurotrophic factor (BDNF) gene. Molecular Psychiatry. 15: 810-5. PMID 19255578 DOI: 10.1038/mp.2009.24  0.72
2009 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. Seminars in Pediatric Neurology. 16: 155-63. PMID 19778712 DOI: 10.1016/j.spen.2009.06.003  0.72
2009 Leussis MP, Frayne ML, Saito M, Berry EM, Aldinger KA, Rockwell GN, Hammer RP, Baskin-Hill AE, Singer JB, Nadeau JH, Sklar P, Petryshen TL. Genomic survey of prepulse inhibition in mouse chromosome substitution strains. Genes, Brain, and Behavior. 8: 806-16. PMID 19694817 DOI: 10.1111/j.1601-183X.2009.00526.x  0.72
2009 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. Nature Genetics. 41: 1037-42. PMID 19668217 DOI: 10.1038/ng.422  0.72
2009 Bailey KA, Aldinger KA. Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clinical Genetics. 75: 427-8. PMID 19459882 DOI: 10.1111/j.1399-0004.2009.01186_3.x  0.72
2009 Bailey KA, Aldinger KA. An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development. Clinical Genetics. 75: 424-5. PMID 19459880 DOI: 10.1111/j.1399-0004.2009.01186_1.x  0.72
2009 Aldinger KA, Sokoloff G, Rosenberg DM, Palmer AA, Millen KJ. Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies. Plos One. 4: e4729. PMID 19266100 DOI: 10.1371/journal.pone.0004729  0.72
2009 Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, et al. Association and mutation analyses of 16p11.2 autism candidate genes. Plos One. 4: e4582. PMID 19242545 DOI: 10.1371/journal.pone.0004582  0.72
2009 Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. American Journal of Medical Genetics. Part A. 149: 129-37. PMID 19161147 DOI: 10.1002/ajmg.a.32630  0.72
2008 Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, et al. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Human Genetics. 123: 237-45. PMID 18204864 DOI: 10.1007/s00439-008-0467-y  0.72
2008 Aldinger KA, Elsen GE. Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 338-9. PMID 18184775 DOI: 10.1523/JNEUROSCI.5139-07.2008  0.72
2005 Petryshen TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S, Aldinger KA, Kirby A, Morley CP, McGann L, Gentile KL, Waggoner SG, Medeiros HM, Carvalho C, Macedo A, Albus M, et al. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Molecular Psychiatry. 10: 1074-88, 1057. PMID 16172613 DOI: 10.1038/sj.mp.4001739  0.72
2005 Petryshen TL, Middleton FA, Kirby A, Aldinger KA, Purcell S, Tahl AR, Morley CP, McGann L, Gentile KL, Rockwell GN, Medeiros HM, Carvalho C, Macedo A, Dourado A, Valente J, et al. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Molecular Psychiatry. 10: 366-74, 328. PMID 15545978 DOI: 10.1038/sj.mp.4001608  0.72
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