Table of Content


Research Article

Application of Clinical Next Generation Sequencing in Intensive Care Facilitates Rapid Diagnosis of Neonates with Rare Genetic Disorders

Tobias Geis, Ute Hehr, Roland Brandl, Saskia Herbst, Hugo Segerer, Michael Melter, Sophie Hinreiner
Received: August 31, 2017; Published: March 6, 2018; doi:10.21926/obm.genet.1801015


Next Generation Sequencing in Autism Spectrum Disorder

Jiani Yin, David Oleson, Christian P. Schaaf
Received: August 31, 2017; Published: February 24, 2018; doi:10.21926/obm.genet.1801014


Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Martina C Cornel
Received: July 13, 2017; Published: February 12, 2018; doi:10.21926/obm.genet.1801013


Special Issue: Treatment of Genetic Disease

Khue Vu Nguyen
Received: January 19, 2018; Published: February 1, 2018; doi:10.21926/obm.genet.1801012

Research Article

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

Kerstin Grund, Dominik Sturm, Christian Sutter, Felix Sahm, Katrin Hinderhofer, Christian Kratz, Daniel Schrimpf, Andreas von Deimling, Kristian W. Pajtler, David TW Jones, Stefan M. Pfister, Nicola Dikow
Received: September 1, 2017; Published: December 6, 2017; doi:10.21926/obm.genet.1704011

Mini Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Myrto Poulou, Maria Tzetis
Received: July 31, 2017; Published: November 3, 2017; doi:10.21926/obm.genet.1704010


Preimplantation Genetic Screening

Karen Sermon
Received: August 11, 2017; Published: October 27, 2017; doi:10.21926/obm.genet.1704009


The Role of Epigenetics in Developmental Programming and the Developmental Origins of Health and Disease

Kazuki Mochizuki, Chihiro Imai, Noriko Sato, Takeo Kubota
Received: June 20, 2017; Published: October 20, 2017; doi:10.21926/obm.genet.1704008


Prenatal Screening for Fetal Aneuploidy

Sylvie Langlois, R Douglas Wilson
Received: August 1, 2017; Published: September 27, 2017; doi:10.21926/obm.genet.1703007


Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Anne-Marie Laberge, Wylie Burke
Received: July 30, 2017; Published: September 25, 2017; doi:10.21926/obm.genet.1703006