Lama AlAbdi

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Leen Abu‐Safieh, May Alrashed, Shamsa Anazi et al. · Genome Research · 2012 · 277 citations · Full text

Rd Families, Genetics, Genetic Epidemiology +18

In search of triallelism in Bardet–Biedl syndrome

Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi et al. · European Journal of Human Genetics · 2012 · 123 citations · Full text

Genetic Disorder, Inherited Metabolic Disease, Pathology +3

An epigenetic switch regulates<i>de novo</i>DNA methylation at a subset of pluripotency gene enhancers during embryonic stem cell differentiation

Christopher J. Petell, Lama AlAbdi, Ming He et al. · Nucleic Acids Research · 2016 · 65 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +20

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Arif O. Khan, Mohammed A. Aldahmesh, Lama AlAbdi et al. · Ophthalmic Genetics · 2011 · 46 citations

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

Leen Abu‐Safieh, Emad B. Abboud, Hisham Alkuraya et al. · The American Journal of Human Genetics · 2011 · 43 citations · Full text

Ocular Disease, Signal Transduction, Angiogenesis +10