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732 posters,
2 sessions,
11 topics,
3542 authors,
923 institutions
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ACMG Annual Clinical Genetics Meeting 2017
March 21-25, 2017, Phoenix Convention Center Phoenix, Arizona
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13
RAI1 Overexpression Promotes Disruption of Central Circadian Components and Dyssomnia in Potocki-Lupski Syndrome
Michael Fountain
,
Sureni Mullegama
,
Joseph Alaimo
,
Brooke Burns
,
Amanda Hebert
,
Li Chen
,
Sarah Elsea
Baylor College of Medicine/Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
,
UCLA, Departments of Pathology and Laboratory Medicine and UCLA Clinical Genomics Center
,
Baylor College of Medicine
,
Virginia Commonwealth University School of Medicine
,
School of Basic Medical Sciences, Fudan University
Poster Presenter:
Michael Fountain
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221
Clinical and Molecular Characterization of Mandibulofacial and Oral-Acral Dysostoses Patients
Steven Sperber
,
Lisong Shi
,
Ethylin Jabs
,
Geetu Mendiratta-Vij
,
Xiaoqian Ye
Icahn School of Medicine at Mount Sinai
Poster Presenter:
Steven Sperber
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222
Prevalence of Seizure Disorders in Williams Syndrome: Typical versus Long Deletions
Colleen Morris
,
Munira Rahman
,
Katrina Farwig
,
Lucy Osborne
,
Carolyn Mervis
University of Nevada School of Medicine
,
University of Toronto
,
University of Louisville
Poster Presenter:
Colleen Morris
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223
placenta whispers II... tales of CPM and clinical impact
Jenna Wardrop
,
Ron McCullough
,
Eyad Almasri
,
Theresa Boomer
,
Phillip Cacheris
Sequenom Laboratories
Poster Presenter:
Jenna Wardrop
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224
Co-occurrence of Pathogenic Variants in MPZ and LRSAM1 in Charcot-Marie-Tooth Disease: Implications for Genetic Counseling for Multi-Gene Panel Testing
Christopher Tan
,
Swaroop Aradhya
,
David Everman
,
Jessica Worthington
,
Sarah McCalmon
,
Jody Westbrook
Invitae Corporation
,
Greenwood Genetic Center
Poster Presenter:
Christopher Tan
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225
Elevated Vitamin D Levels in Patients with Smith-Lemli-Opitz Syndrome without Evidence of Laboratory Vitamin D Toxicity
Miyad Movassaghi
,
Simona Bianconi
,
Forbes D Porter
,
Christopher Wassif
Frank H. Netter MD School of Medicine at Quinnipiac University; NICHD, NIH
,
Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
,
NICHD, NIH
Poster Presenter:
Miyad Movassaghi
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226
Clinical and Molecular Characteristics of an Extremely Rare Genetic Condition: NGLY1 Deficiency in a 10 year old
Berrin Monteleone
,
Tamara Haygarth
,
John Spence
Carolinas Health System
Poster Presenter:
Berrin Monteleone
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227
False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care
Stephany Tandy-Connor
,
Holly LaDuca
,
Brigette Tippin Davis
,
Jenna Guiltinan
,
Kate Krempely
,
Patrick Reineke
,
Stephanie Gutierrez
Ambry Genetics
Poster Presenter:
Stephany Tandy-Connor
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228
Know FH: Mutation Spectrum and Utilization of Cascade Testing for Familial Hypercholesterolemia
Brianna Volz
,
Brigette Tippin Davis
,
Jill Dolinsky
,
Tami Johnston
,
Lily Hoang
,
Catherine Potente
,
Andy Castro
,
Taylor Cain
,
Barbara Boggs
Ambry Genetics
Poster Presenter:
Brianna Volz
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