Publications by authors named "Susan L Christian"

28Publications

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

J Child Neurol 2015 Dec 20;30(14):1947-53. Epub 2015 Sep 20.

Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry, and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073815602066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739844PMC
December 2015

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Am J Hum Genet 2014 Apr;94(4):634-41

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98195, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980418PMC
April 2014

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Eur J Hum Genet 2014 May 18;22(5):587-93. Epub 2013 Sep 18.

1] Center for Cell Signaling, University of Virginia, Charlottesville, VA, USA [2] Departments of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992559PMC
May 2014

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Am J Med Genet A 2013 Jul 23;161A(7):1523-30. Epub 2013 May 23.

Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850PMC
July 2013

Duplication 16p11.2 in a child with infantile seizure disorder.

Am J Med Genet A 2010 Jun;152A(6):1567-74

Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-5652, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160635PMC
June 2010

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Autism Res 2009 Dec;2(6):359-64

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637-5415, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/aur.107DOI Listing
December 2009

Genetics of autism spectrum disorders.

Curr Neurol Neurosci Rep 2009 May;9(3):188-97

Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11910-009-0029-2DOI Listing
May 2009

Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1116-25

Department of Psychiatry, College of Medicine, University of Florida, Gainesville, Florida, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4095800PMC
October 2008

Recurrent 16p11.2 microdeletions in autism.

Hum Mol Genet 2008 Feb 21;17(4):628-38. Epub 2007 Dec 21.

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm376DOI Listing
February 2008

No evidence for association between 19 cholinergic genes and bipolar disorder.

Am J Med Genet B Neuropsychiatr Genet 2007 Sep;144B(6):715-23

Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576477PMC
September 2007

Autism as a paradigmatic complex genetic disorder.

Annu Rev Genomics Hum Genet 2004 ;5:379-405

Departments of Psychiatry, The University of Chicago, Illinois 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev.genom.5.061903.180050DOI Listing
November 2004

Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype.

Am J Psychiatry 2004 Sep;161(9):1698-700

Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1176/appi.ajp.161.9.1698DOI Listing
September 2004

DNannotator: Annotation software tool kit for regional genomic sequences.

Nucleic Acids Res 2003 Jul;31(13):3729-35

Department of Psychiatry, University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC168949PMC
http://dx.doi.org/10.1093/nar/gkg542DOI Listing
July 2003