Publications by authors named "Jason R Willer"

22Publications

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 04 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 2019

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Invest Ophthalmol Vis Sci 2017 03;58(3):1570-1576

Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States 2Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, United States.

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http://dx.doi.org/10.1167/iovs.16-20867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022411PMC
March 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Next-generation sequencing of the human olfactory receptors.

Methods Mol Biol 2013 ;1003:133-47

Monell Chemical Senses Center, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-62703-377-0_10DOI Listing
September 2013

Muscle contractions guide rohon-beard peripheral sensory axons.

J Neurosci 2009 Oct;29(42):13190-201

Departments of Zoology and Anatomy and Cell and Molecular Biology Training Program, University of Wisconsin, Madison, Wisconsin 53706, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.2179-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782739PMC
October 2009