Amira Masri
University of Jordan(JO)Jordan Hospital(JO)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Fetal and Pediatric Neurological Disorders, Mitochondrial Function and Pathology, Retinal Development and Disorders
Most-Cited Works
- → Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders(2014)537 cited
- → Mutations in PYCR1 cause cutis laxa with progeroid features(2009)252 cited
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans(2013)101 cited
- → Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number(2014)100 cited
- → Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling(2010)94 cited
- → Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families(2014)85 cited
- → GLRB is the third major gene of effect in hyperekplexia(2012)58 cited
- → Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach(2014)42 cited
- → Griscelli Syndrome Type 2: A Rare and Lethal Disorder(2008)31 cited