Publications by authors named "Erin P Carmany"

9Publications

Assessing the availability and quality of Spanish-language genetic resources for patients on the internet.

Authors:
Libby Westrate Simone Brennan Erin P Carmany

J Genet Couns 2020 06 30;29(3):381-390. Epub 2020 Mar 30.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan.

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June 2020

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.

Authors:
Grace M Anbouba Erin P Carmany Jaime L Natoli

Am J Med Genet A 2020 04 25;182(4):831-841. Epub 2020 Jan 25.

Kaiser Permanente Southern California, Pasadena, California.

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April 2020

Genetic counselor workflow study: The times are they a-changin'?

Authors:
Courtney A Attard Erin P Carmany Angela M Trepanier

J Genet Couns 2019 02 10;28(1):130-140. Epub 2018 Dec 10.

Genetic Counseling Program, Wayne State University School of Medicine, Detroit, Michigan.

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February 2019

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients.

Authors:
Emily VandenBoom Angela M Trepanier Erin P Carmany

J Genet Couns 2018 06 12;27(3):681-688. Epub 2017 Oct 12.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 540 E. Canfield St., 2375 Scott Hall, Detroit, MI, 48201, USA.

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June 2018

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Authors:
Kelly R Burgess Erin P Carmany Angela M Trepanier

J Genet Couns 2016 Feb 6;25(1):112-26. Epub 2015 Jun 6.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 540 E. Canfield, 2375 Scott Hall, Detroit, MI, USA.

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February 2016

Evaluation of genetic counseling among cystic fibrosis carriers, Michigan Newborn Screening.

Authors:
Mary J Kleyn Carrie Langbo Ibrahim Abdulhamid Craig R Adamski Catherine Allan Erin P Carmany M Myrtha Gregoire-Bottex Douglas Homnick John Schuen Samya Z Nasr

Pediatr Pulmonol 2013 Feb 20;48(2):123-9. Epub 2012 Nov 20.

Michigan Department of Community Health, Lansing, Michigan, USA.

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February 2013

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:
Santhosh Girirajan Jill A Rosenfeld Bradley P Coe Sumit Parikh Neil Friedman Amy Goldstein Robyn A Filipink Juliann S McConnell Brad Angle Wendy S Meschino Marjan M Nezarati Alexander Asamoah Kelly E Jackson Gordon C Gowans Judith A Martin Erin P Carmany David W Stockton Rhonda E Schnur Lynette S Penney Donna M Martin Salmo Raskin Kathleen Leppig Heidi Thiese Rosemarie Smith Erika Aberg Dmitriy M Niyazov Luis F Escobar Dima El-Khechen Kisha D Johnson Robert R Lebel Kiana Siefkas Susie Ball Natasha Shur Marianne McGuire Campbell K Brasington J Edward Spence Laura S Martin Carol Clericuzio Blake C Ballif Lisa G Shaffer Evan E Eichler

N Engl J Med 2012 Oct 12;367(14):1321-31. Epub 2012 Sep 12.

Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.

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October 2012

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Authors:
Eric A Muller Swaroop Aradhya Joan F Atkin Erin P Carmany Alison M Elliott Albert E Chudley Robin D Clark David B Everman Shannon Garner Bryan D Hall Gail E Herman Emma Kivuva Subhadra Ramanathan David A Stevenson David W Stockton Louanne Hudgins

Am J Med Genet A 2012 Feb 21;158A(2):391-9. Epub 2011 Dec 21.

Stanford University, Stanford, California 94305, USA.

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February 2012

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

Authors:
Erin P Carmany Erawati V Bawle

Am J Med Genet A 2011 Apr 15;155A(4):819-24. Epub 2011 Mar 15.

Division of Genetic and Metabolic Disorders, Department of Pediatrics, Wayne State University and Children's Hospital of Michigan, Detroit, Michigan, USA.

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April 2011