Raheel Qamar

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

Evolution of codon usage in Zika virus genomes is host and vector specific

Azeem Mehmood Butt, Izza Nasrullah, Raheel Qamar et al. · Emerging Microbes & Infections · 2016 · 188 citations · Full text

Genetics, Natural Selection, Molecular Genetics +24

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq et al. · Molecular Psychiatry · 2017 · 177 citations

Mendelian Disorder, Novel Candidate Genes, Genetic Disorder +6

<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis et al. · Genome Research · 2017 · 170 citations · Full text

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin et al. · The American Journal of Human Genetics · 2010 · 104 citations · Full text

Genome Instability, Mendelian Disorder, Genetic Disorder +6