Publications by authors named "Nikkola Carmichael"

9Publications

Conscripted curriculum: The experiences of minority genetic counseling students.

J Genet Couns 2020 Apr 21;29(2):303-314. Epub 2020 Mar 21.

College of Natural, Behavioral, and Health Sciences, Simmons University, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgc4.1260DOI Listing
April 2020

Homozygous mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Neurol Genet 2019 Apr 7;5(2):e312. Epub 2019 Mar 7.

Department of Molecular and Cellular Biology (J.V., R.G.), Harvard University, Cambridge; Division of Genetics (M.M.M., A.T.-P., C.G., A.H.B., N.C., B.T.D., N.Y.F., J.K., V.A.G.), Brigham Genomic Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston; Division of Genetics (E.E.), Boston Children's Hospital; and Division of Neurology (B.T.D.), Boston Children's Hospital, Harvard Medical School, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454305PMC
April 2019

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Am J Med Genet A 2017 Aug 2;173(8):2235-2239. Epub 2017 Jun 2.

Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, and the Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509496PMC
August 2017

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Proc Natl Acad Sci U S A 2016 08 18;113(31):8759-64. Epub 2016 Jul 18.

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1601442113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978273PMC
August 2016

"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.

J Genet Couns 2015 Apr 4;24(2):325-35. Epub 2014 Oct 4.

Genetic Counseling Program, Biology Department, Brandeis University, Waltham, MA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9773-9DOI Listing
April 2015