Blog

Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.

Latest articles

• 

  Himanshu Goel, et al. Case study: Next-generation phenotyping complementing next-generation sequencing

  Abstract Number: (501)Case study: Next-generation phenotyping complementing next-generation sequencing Topic: Clinical GeneticsPresenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Germany; N. Fleischer, FDNA Inc., Boston, MA, USA Session Type: Poster Presentation only Description: Introduction: The use of objective facial analysis using automated facial recognition technology could be considered a form of next-generation phenotyping that complements next-generation sequencing. Initial indications of […]

  Continue reading
• 

  B. Russell, et al. Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool

  Abstract Number: (384)Bohring-Opitz Syndrome Patient Support Group An Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Author: Bianca Russell, MD, Cincinnati Children’s Hospital Co-Authors: S. van Gemert-Godbersen; S. Bermejo; A. Bromley; J. Graham, Jr, Cedar Sinai Medical Center Session Type: Poster Presentation only Description: Introduction: Bohring-Opitz Syndrome (BOS) is a rare genetic condition caused by mutations in ASXL1. […]

  Continue reading