Michal Inbar‐Feigenberg

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky et al. · The American Journal of Human Genetics · 2017 · 202 citations · Full text

Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

Michal Inbar‐Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum et al. · American Journal of Medical Genetics Part A · 2012 · 88 citations

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier et al. · JCI Insight · 2017 · 68 citations · Full text