MuhammadAmirRafiqMD

PubMed

• 62 citations
  Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability
  Muhammad Rafiq, Andreas W. Kuss, Lucia Puettmann, Abdul Noor, Annapoorani Ramiah, Ghazanfar Ali, Hao Hu, Nadir Ali Kerio, Yong Xiang, Masoud Garshasbi, Muzammil Ahmad ...> ;American Journal of Human Genetics. 2011 Jul 15
• 458 citations
  Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
  Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik Huntzick...> ;Cell. 2011 May 13
• 30 citations
  A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
  Muzammil Ahmad Khan, Muhammad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B. Vincent, Muhammad Ansar> ;BMC Medical Genetics. 2011 Apr 22
• 113 citations
  Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
  Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andre...> ;American Journal of Human Genetics. 2009 Dec 11
• 64 citations
  Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3
  Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija Orlic, Muhammad Rafiq, Mahwish Khalid, Mahmood Nasir Malik, Muhammad Ayub, Benjamin A. Alman, John B. Vincent> ;American Journal of Human Genetics. 2009 Apr 10
• 115 citations
  Genome assembly comparison identifies structural variants in the human genome.
  Razi Khaja, Junjun Zhang, Jeffrey R. MacDonald, Yongshu He, Ann M. Joseph-George, John Wei, Muhammad Rafiq, Cheng Qian, Mary Shago, Lorena Pantano, Hiroyuki Aburatani,...> ;Nature Genetics. 2006 Nov 22
• 51 citations
  Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene
  Asma Gul, Muhammad Jawad Hassan, Saqib Mahmood, W. Chen, Safa Rahmani, Muhammad Imran Naseer, Lisa Dellefave, Noor Muhammad, Muhammad Rafiq, Muhammad Ansar, Muhammad S...> ;Neurogenetics. 2006 Apr 21
• 7 citations
  A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.
  Muhammad Rafiq, Mohammad Faiyaz-Ul-Haque, Mohammad Amin ud Din, Sajid Malik, Muhammad Sohail, Maqsood Anwar, Sayedul Haque, Andrew D. Paterson, Lap-Chee Tsui, Wasim Ahmad> ;The Journal of Investigative Dermatology. 2005 Feb 1
• 34 citations
  A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.
  Muhammad Rafiq, Muhammad Ansar, Saqib Mahmood, Sayedul Haque, Muhammad Faiyaz-Ul-Haque, Suzanne M. Leal, Wasim Ahmad> ;The Journal of Investigative Dermatology. 2004 Jul 1
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