Publications by authors named "Elizabeth A Geiger"

14Publications

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000844

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA;; Colorado Intellectual and Developmental Disabilities Research Center (IDDRC), University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

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http://dx.doi.org/10.1101/mcs.a000844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853521PMC
May 2016

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Hum Mol Genet 2015 Aug 13;24(15):4443-53. Epub 2015 May 13.

Department of Pediatrics, Section of Clinical Genetics and Metabolism and, Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA,

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http://dx.doi.org/10.1093/hmg/ddv180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492403PMC
August 2015

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103049DOI Listing
August 2015

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Dev Biol 2014 Dec 2;396(1):94-106. Epub 2014 Oct 2.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA; Section of Genetics, University of Colorado, School of Medicine, Aurora, CO 80045, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2014.09.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391465PMC
December 2014

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

Hum Mol Genet 2011 Mar 8;20(5):880-93. Epub 2010 Dec 8.

Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/hmg/ddq527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033180PMC
March 2011

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Eur J Med Genet 2009 Jul-Aug;52(4):265-8. Epub 2008 Dec 13.

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800165
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http://dx.doi.org/10.1016/j.ejmg.2008.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391973PMC
November 2009