732 posters, 2 sessions, 11 topics, 3542 authors, 923 institutions

Back

Search

Clinical Genetics

Primary tabs

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

The Poster has not been submitted by the Author.

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

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

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

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

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

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

The Poster has not been submitted by the Author.

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

The Poster has not been submitted by the Author.

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

Search

Clinical Genetics

Primary tabs

RAI1 Overexpression Promotes Disruption of Central Circadian Components and Dyssomnia in Potocki-Lupski Syndrome

Clinical and Molecular Characterization of Mandibulofacial and Oral-Acral Dysostoses Patients

Prevalence of Seizure Disorders in Williams Syndrome: Typical versus Long Deletions

placenta whispers II... tales of CPM and clinical impact

Co-occurrence of Pathogenic Variants in MPZ and LRSAM1 in Charcot-Marie-Tooth Disease: Implications for Genetic Counseling for Multi-Gene Panel Testing

Elevated Vitamin D Levels in Patients with Smith-Lemli-Opitz Syndrome without Evidence of Laboratory Vitamin D Toxicity

Clinical and Molecular Characteristics of an Extremely Rare Genetic Condition: NGLY1 Deficiency in a 10 year old

False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care

Know FH: Mutation Spectrum and Utilization of Cascade Testing for Familial Hypercholesterolemia

Pages

Pages

Useful links