Publications by authors named "Amy Crunk"

12Publications

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.

J Assist Reprod Genet 2018 Jun 24;35(6):985-992. Epub 2018 Jun 24.

Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.

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http://dx.doi.org/10.1007/s10815-018-1228-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030004PMC
June 2018

A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p.

Epilepsia 2011 May 11;52(5):993-9. Epub 2011 Apr 11.

Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232- 8552, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03059.xDOI Listing
May 2011

A genome-wide linkage analysis of dementia in the Amish.

Am J Med Genet B Neuropsychiatr Genet 2006 Mar;141B(2):160-6

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1002/ajmg.b.30257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613780PMC
March 2006

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

Hum Genet 2005 Oct 28;118(1):115-22. Epub 2005 Oct 28.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1007/s00439-005-0032-xDOI Listing
October 2005

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.

Epilepsia 2004 Mar;45(3):218-22

Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232-8552, USA.

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http://www2.biology.uoc.gr/courses/BIO303_genetiki_anthropou
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http://dx.doi.org/10.1111/j.0013-9580.2004.47203.xDOI Listing
March 2004