With that in mind, Ambry is excited to share several medians of educational materials with our colleagues.

Scientific Poster Categories

Hereditary Cancer Syndromes

• Beyond BRCA : Identifying Hereditary Breast Cancer Families Through the Use of Multi-Gene Cancer Panels
• Cancer Panel Data, Presented in NSGC, Boston 2012
• ColoNext NGS Panel Positive Findings
• ASCO Quality Care Symposium, 2012: Clinical Adoption of NGS for Hereditary Cancer
• Beyond BRCA1/2, Genetic Testing for Hereditary Breast Cancer
• BreastNext Uptake and Usability in Clinical Practice 
• APC Promotoer 1B Deletions in Association with FAP
• VUSs in Cancer Predisposition Genes: Introducing Family Studies Program

Clinical Diagnostic Exome Findings 

• Clinical Diagnostic Exome Sequencing Identified a novel Mutation in ACTG2, Possibly Due to Germline Mosaicism, in Two Affected Children with Megacystis and Echogenic Bowel in a Chinese Family
• Clinical exome sequencing identifies a novel gene, SNAP25, associated with seizures
• Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-­Ptosis-­Intellectual Disability Syndrome by clinical diagnostic exome
• Exome sequencing in a patient with syndromic intellectual disability identifies ZNF238, a novel gene which lies within the 1q43q44 microdeletion syndrome
• Diagnostic Exome Sequencing Suggests Digenic Inheritance in a Cobalamin Metabolism Disorder
• Apparent digenic trialleleic inheritance in early-­onset ataxia through whole exome sequencing
• Family-based exome sequencing reveals that de novo alterations make up a significant portion of previously undiagnosed patients
• Exome Sequencing Reveals a de novo DYNC1H1 Mutation
• Exome Sequencing Leads to a Timothy Syndrome Diagnosis
• Exome Sequencing Reveals a Novel C20orf7 Mutation
• Patient Decisions for Disclosure of Exome Sequencing Findings

Intellectual Disability 

• A novel HUWE1 missense mutation in a patient with intellectual disability
• A novel OPHN1 splice site mutation in a patient with mental retardation
• A novel intragenic deletion in SLC9A6 in a patient with intellectual disability
• A retrospective Genetic Analysis of Cases Reported using an XLMR/XLID Next-Generation Sequencing Panel

Hereditary Cardiovascular Diseases

• FBN1 Mutations and Early-­Onset Marfan Syndrome
• A novel FBN1 nonsense mutation at the 5’ end of the transcript
• Identification of an MYOM1 Frameshift Mutation in a Patient with Hypertrophic Cardiomyopathy
• NGS Panel for Marfan and Marfan Syndrome Like-Connective Disorders

Hereditary Pulmonary Diseases

• Novel Mutations Detected in Individuals with Primary Ciliary Dyskinesia Using Diagnostic Next Generation Sequencing Technologies
• Benefits CFTR Sequencing for Diagnostic CF
• Novel CFTR Mutations: Clinical Features of Three Children
• CF Amplified Detects 100% of CFTR Mutations in Group of Patients
• A Case Study Illustrating the Benefits of Full Sequence Analysis for Diagnosing CF
• Increased Frequencies of CFTR, PRSS1 and SPINK1 Genetic Mutations Identified in Patients with Chronic and or Hereditary
• Clinical Features of Three Children with Novel CFTR Mutations

Other Hereditary Diseases

• Positive Findings in Paraganglioma-­Pheochromocytoma (PGL-­PCC) Syndrome Families

• Testing for Diamond Blackfan Anemia: First 200 Families

Innovative Technologies/Genomics

• Ion Torrent 314 Chip identifies 23 ACMG/ACOG
• Introducing NGS PCD and PCD-Like Panel, an Alternative to Sanger
• Improved Filtering of Variants in NGS Panels
• A-CGH: Detects Exonic Copy-Number Changes
• Characterization of Stem Cells using Ambry StemArray
• Comprehensive Gene Sequence Analysis from Bloodspot and Saliva DNA