Colleen M Carlston

Colleen M Carlston

UNVERIFIED PROFILE

Are you Colleen M Carlston?   Register this Author

Register author
Colleen M Carlston

Colleen M Carlston

Publications by authors named "Colleen M Carlston"

Are you Colleen M Carlston?   Register this Author

8Publications

165Reads

8Profile Views

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.

Am J Med Genet A 2019 May 17;179(5):792-796. Epub 2019 Feb 17.

Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61091DOI Listing
May 2019

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

JIMD Rep 2019 20;43:103-109. Epub 2018 Jun 20.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2018_111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323015PMC
June 2018

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38648DOI Listing
April 2018

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017