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Muhammad Rafiq | doi.page

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Muhammad Rafiq

Sunnybrook Health Science Centre(CA)Prince Mohammad bin Fahd University(SA)University of Toronto(CA)Namal University(PK)Namal College(PK)Mayo Hospital(PK)Institute of Business, Psychology and Management(RU)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Plant tissue culture and regeneration

Most-Cited Works

→ Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways(2011)617 cited
→ Towards a comprehensive structural variation map of an individual human genome(2010)355 cited
→ Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability(2012)229 cited
→ Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families(2017)182 cited
→ Genome assembly comparison identifies structural variants in the human genome(2006)164 cited
→ An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis(2018)152 cited

→ Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation(2009)

127 cited

→ Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3(2009)94 cited

→ Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability(2011)88 cited

→ Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability(2014)71 cited