Publications by authors named "Amy Shealy"

8 Publications

  • Page 1 of 1

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.

Authors:
J Kevin Hicks Amy Shealy Allison Schreiber Marissa Coleridge Ryan Noss Marvin Natowicz Rocio Moran Timothy Moss Angelika Erwin Charis Eng

Clin Transl Sci 2018 01 27;11(1):71-76. Epub 2017 Jul 27.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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January 2018

Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices.

Authors:
Brandie Heald Lisa Rybicki Diane Clements Jessica Marquard Jessica Mester Ryan Noss Monica Nardini Jill Polk Brittany Psensky Christina Rigelsky Allison Schreiber Amy Shealy Marissa Smith Charis Eng

NPJ Genom Med 2016 11;1:16010. Epub 2016 May 11.

Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

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May 2016

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

Authors:
Jacy L Wagnon Bryan S Barker James A Hounshell Charlotte A Haaxma Amy Shealy Timothy Moss Sumit Parikh Ricka D Messer Manoj K Patel Miriam H Meisler

Ann Clin Transl Neurol 2016 Feb 21;3(2):114-23. Epub 2015 Dec 21.

Department of Human Genetics University of Michigan Ann Arbor Michigan.

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February 2016

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Authors:
Maja Sukalo Ariane Fiedler Celina Guzmán Stephanie Spranger Marie-Claude Addor Jiad N McHeik Manuel Oltra Benavent Jan M Cobben Lynette A Gillis Amy G Shealy Charu Deshpande Bita Bozorgmehr David B Everman Eva-Lena Stattin Jan Liebelt Klaus-Michael Keller Débora Romeo Bertola Clara D M van Karnebeek Carsten Bergmann Zhifeng Liu Gesche Düker Nima Rezaei Fowzan S Alkuraya Gönül Oğur Abdullah Alrajoudi Carlos A Venegas-Vega Nienke E Verbeek Erick J Richmond Ozgür Kirbiyik Prajnya Ranganath Ankur Singh Koumudi Godbole Fouad A M Ali Crésio Alves Julia Mayerle Markus M Lerch Heiko Witt Martin Zenker

Hum Mutat 2014 May 9;35(5):521-31. Epub 2014 Apr 9.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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May 2014

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Authors:
Allen N Lamb Jill A Rosenfeld Nicholas J Neill Michael E Talkowski Ian Blumenthal Santhosh Girirajan Debra Keelean-Fuller Zheng Fan Jill Pouncey Cathy Stevens Loren Mackay-Loder Deborah Terespolsky Patricia I Bader Kenneth Rosenbaum Stephanie E Vallee John B Moeschler Roger Ladda Susan Sell Judith Martin Shawnia Ryan Marilyn C Jones Rocio Moran Amy Shealy Suneeta Madan-Khetarpal Juliann McConnell Urvashi Surti Andrée Delahaye Bénédicte Heron-Longe Eva Pipiras Brigitte Benzacken Sandrine Passemard Alain Verloes Bertrand Isidor Cedric Le Caignec Gwen M Glew Kent E Opheim Maria Descartes Evan E Eichler Cynthia C Morton James F Gusella Roger A Schultz Blake C Ballif Lisa G Shaffer

Hum Mutat 2012 Apr;33(4):728-40

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA.

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April 2012

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:
Jennifer J Johnston Julie C Sapp Joyce T Turner David Amor Salim Aftimos Kyrieckos A Aleck Maureen Bocian Joann N Bodurtha Gerald F Cox Cynthia J Curry Ruth Day Dian Donnai Michael Field Ikuma Fujiwara Michael Gabbett Moran Gal John M Graham Peter Hedera Raoul C M Hennekam Joseph H Hersh Robert J Hopkin Hülya Kayserili Alexa M J Kidd Virginia Kimonis Angela E Lin Sally Ann Lynch Melissa Maisenbacher Sahar Mansour Julie McGaughran Lakshmi Mehta Helen Murphy Margarita Raygada Nathaniel H Robin Alan F Rope Kenneth N Rosenbaum G Bradley Schaefer Amy Shealy Wendy Smith Maria Soller Annmarie Sommer Heather J Stalker Bernhard Steiner Mark J Stephan David Tilstra Susan Tomkins Pamela Trapane Anne Chun-Hui Tsai Margot I Van Allen Pradeep C Vasudevan Bernhard Zabel Janice Zunich Graeme C M Black Leslie G Biesecker

Hum Mutat 2010 Oct;31(10):1142-54

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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October 2010

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

Authors:
Naim Alkhouri Barbara Kaplan Marsha Kay Amy Shealy Carol Crowe Susanne Bauhuber Martin Zenker

World J Gastroenterol 2008 Nov;14(44):6863-6

Department of Pediatric Gastroenterology and Nutrition, Cleveland Clinic, 9500 Euclid Avenue, Desk A-111, Cleveland, OH 44195, USA.

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November 2008

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

Authors:
Kevin M Zbuk Attila Patocs Amy Shealy Heather Sylvester Susan Miesfeldt Charis Eng

Nat Clin Pract Oncol 2007 Oct;4(10):608-12

Genomic Medicine Institute at the Cleveland Clinic, Cleveland, OH, USA.

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October 2007