Farah Zahir
University of British Columbia(CA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Autism Spectrum Disorder Research, Congenital heart defects research
Most-Cited Works
- → Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care(2015)391 cited
- → Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation(2006)326 cited
- → Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway(2014)236 cited
- → ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder(2017)137 cited
- → A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α(2007)131 cited
- → Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome(2009)123 cited
- → Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action(2011)93 cited
- → Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children(2007)88 cited
- → Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization(2009)69 cited
- → Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14(2007)61 cited