Kimberly A Aldinger

Kimberly A Aldinger

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Kimberly A Aldinger

Kimberly A Aldinger

Publications by authors named "Kimberly A Aldinger"

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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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http://dx.doi.org/10.1002/ajmg.c.31746DOI Listing
December 2019

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

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

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

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 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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http://dx.doi.org/10.7554/eLife.45961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544437PMC
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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http://dx.doi.org/10.1002/ajmg.c.31666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540982PMC
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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http://dx.doi.org/10.1371/journal.pgen.1006425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5147776PMC
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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http://dx.doi.org/10.1016/j.siny.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035570PMC
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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http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
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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http://dx.doi.org/10.1002/aur.1492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736680PMC
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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http://dx.doi.org/10.1002/ajmg.a.36395DOI Listing
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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http://dx.doi.org/10.1186/1866-1955-5-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3700820PMC
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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http://dx.doi.org/10.1159/000336644DOI Listing
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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http://dx.doi.org/10.1016/j.neuron.2011.10.007DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.33545DOI Listing
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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http://dx.doi.org/10.1111/j.1460-9568.2010.07330.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974799PMC
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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http://dx.doi.org/10.1242/dmm.004663DOI Listing
March 2010

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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http://dx.doi.org/10.1523/JNEUROSCI.5139-07.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670507PMC
January 2008