Laura Fairbrother

POGZ truncating alleles cause syndromic intellectual disability

Janson J. White, Christine R. Beck, Tamar Harel et al. · Genome Medicine · 2016 · 107 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan et al. · The American Journal of Human Genetics · 2017 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

Laura Fairbrother, Cheryl Cytrynbaum, P Boutis et al. · American Journal of Medical Genetics Part A · 2015 · 20 citations

Life Sciences, Neurology, Neuroscience +17

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

Kelly Usrey, Charles A. Williams, Majed Dasouki et al. · Case Reports in Genetics · 2014 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13