Publications by authors named "Kimberly A Aldinger"

48Publications

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.

Sci Data 2020 06 19;7(1):192. Epub 2020 Jun 19.

Department of Pediatrics and Program in Developmental Neuroscience and Developmental Neurogenetics, The Saban Research Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

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June 2020

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.

Cell Rep 2020 04;31(1):107489

Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Comparative Medicine, Program in Integrative Cell Signaling and Neurobiology of Metabolism, Yale School of Medicine, New Haven, CT 06510, USA; Program in Cellular Neuroscience, Neurodegeneration, and Repair and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address:

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April 2020

Laser Capture Micro-dissection (LCM) of Neonatal Mouse Forebrain for RNA Isolation.

Bio Protoc 2020 Jan;10(1)

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, United States.

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January 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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March 2020

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):509-518. Epub 2019 Oct 23.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.

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December 2019

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice.

Elife 2019 05 16;8. Epub 2019 May 16.

Center for Integrative Brain Research, Seattle Children's Research Institute, Washington, United States.

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May 2019

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Am J Med Genet C Semin Med Genet 2018 12;178(4):432-439

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.

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December 2018

Pleiotropic Mechanisms Indicated for Sex Differences in Autism.

PLoS Genet 2016 11 15;12(11):e1006425. Epub 2016 Nov 15.

Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, California, United States of America.

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November 2016

The genetics of cerebellar malformations.

Semin Fetal Neonatal Med 2016 10 7;21(5):321-32. Epub 2016 May 7.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. Electronic address:

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October 2016

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

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June 2016

Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder.

Autism Res 2015 Dec 24;8(6):771-81. Epub 2015 May 24.

Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.

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December 2015

Amyoplasia revisited.

Am J Med Genet A 2014 Mar 23;164A(3):700-30. Epub 2014 Jan 23.

Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada.

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March 2014

Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.

J Neurodev Disord 2013 Jun 11;5(1):15. Epub 2013 Jun 11.

Zilkha Neurogenetic Institute, Keck School of Medicine of USC, 1501 San Pablo Street, Los Angeles, CA 90089, USA.

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June 2013

Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions.

Dev Neurosci 2012 8;34(2-3):88-100. Epub 2012 May 8.

Department of Cell and Neurobiology, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, Calif., USA.

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February 2013

SnapShot: genetics of autism.

Neuron 2011 Oct;72(2):418-8.e1

Keck School of Medicine of USC, Los Angeles, CA 90089, USA.

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October 2011

X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.

Am J Med Genet A 2010 Nov;152A(11):2727-30

Department of Neurology, LSU Health Sciences Center, New Orleans, Louisiana, USA.

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November 2010

Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.

Eur J Neurosci 2010 Sep 16;32(5):707-16. Epub 2010 Aug 16.

Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

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September 2010

New mouse genetic model duplicates human 15q11-13 autistic phenotypes, or does it?

Dis Model Mech 2010 Jan-Feb;3(1-2):3-4

Zilkha Neurogenetic Institute, Department of Cell and Neurobiology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.

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March 2010

Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies.

PLoS One 2009 6;4(3):e4729. Epub 2009 Mar 6.

Committee on Neurobiology, The University of Chicago, Chicago, Illinois, United States of America.

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May 2009

Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain.

J Neurosci 2008 Jan;28(2):338-9

Committee on Neurobiology, The University of Chicago, Chicago, Illinois 60637, USA.

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January 2008