Publications by authors named "Sarah Dugan"

20Publications

Tongue Part Movement Trajectories for /r/ Using Ultrasound.

Perspect ASHA Spec Interest Groups 2019 Dec;4(6):1644-1652

Department of Communication Sciences and Disorders, University of Cincinnati, OH.

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http://dx.doi.org/10.1044/2019_pers-19-00064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286630PMC
December 2019

Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.

J Med Genet 2020 Nov 28;57(11):794-796. Epub 2020 Jan 28.

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

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http://dx.doi.org/10.1136/jmedgenet-2019-106732DOI Listing
November 2020

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.

Am J Med Genet A 2018 12 22;176(12):2901-2906. Epub 2018 Oct 22.

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

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http://doi.wiley.com/10.1002/ajmg.a.40664
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http://dx.doi.org/10.1002/ajmg.a.40664DOI Listing
December 2018

Intracranial Calcifications in Young Children.

Semin Pediatr Neurol 2018 07 2;26:135-139. Epub 2017 Apr 2.

Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.022DOI Listing
July 2018

Modelling category goodness judgments in children with residual sound errors.

Clin Linguist Phon 2019 24;33(4):295-315. Epub 2018 May 24.

a Department of Communication Sciences and Disorders , University of Cincinnati , USA.

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http://dx.doi.org/10.1080/02699206.2018.1477834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733520PMC
June 2020

De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.

Eur J Med Genet 2019 Jan 22;62(1):55-60. Epub 2018 May 22.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.05.003DOI Listing
January 2019

Neuroradiographic findings in 22q11.2 deletion syndrome.

Am J Med Genet A 2017 Aug 3;173(8):2158-2165. Epub 2017 Jun 3.

University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38304DOI Listing
August 2017

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Am J Med Genet A 2015 Dec 3;167A(12):2916-35. Epub 2015 Sep 3.

Departments of Medicine and Molecular Genetics and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005957PMC
December 2015

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.

Am J Med Genet A 2015 Jun 21;167(6):1396-9. Epub 2015 Apr 21.

Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37049DOI Listing
June 2015

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Am J Med Genet A 2011 Nov 19;155A(11):2661-8. Epub 2011 Sep 19.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34245DOI Listing
November 2011