DNA barcoding of Schizothorax species from the Neelum and Jhelum Rivers of Azad Jammu and Kashmir

por Akhtar, Tasleem, Ali, Ghazanfar
Publicado en Mitochondrial DNA B Resour (2016)

Report on Influenza A and B Viruses: Their Coinfection in a Saudi Leukemia Patient

por Almajhdi, Fahad N., Ali, Ghazanfar
Publicado 2013

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33–q27.3

por John, Peter, Ali, Ghazanfar, Chishti, Muhammad S., Ahmad, Wasim, Naqvi, Syed Muhammad S., Leal, Suzanne M.
Publicado en Hum Genet (2005)

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

por Basit, Sulman, Naqvi, Syed Kamran-ul-Hassan, Wasif, Naveed, Ali, Ghazanfar, Ansar, Muhammad, Ahmad, Wasim
Publicado 2008

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

por Habib, Rabia, Ansar, Muhammad, Mattheisen, Manuel, Shahid, Muhammad, Ali, Ghazanfar, Ahmad, Wasim, Betz, Regina C.
Publicado en PLoS One (2015)

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

por Hassan, Muhammad Jawad, Khurshid, Maryam, Azeem, Zahid, John, Peter, Ali, Ghazanfar, Chishti, Muhammad Salman, Ahmad, Wasim
Publicado 2007

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Publicado 2011

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

por Santos, Regie Lyn P., Hassan, Muhammad Jawad, Sikandar, Shaheen, Lee, Kwanghyuk, Ali, Ghazanfar, Martin, Protacio E., Wambangco, Michael Angelo L., Ahmad, Wasim, Leal, Suzanne M.
Publicado 2006

Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

por Ali, Ghazanfar, Lee, Kwanghyuk, Andrade, Paula B., Basit, Sulman, Santos-Cortez, Regie Lyn P., Chen, Leon, Jelani, Musharraf, Ansar, Muhammad, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2011

Sequencing and Characterization of Mitochondrial Protein-Coding Genes for Schizothorax niger (Cypriniformes: Cyprinidae) with Phylogenetic Consideration

por Akhtar, Tasleem, Ali, Ghazanfar, Shafi, Nuzhat, Akhtar, Wasim, Khan, Abdul Hameed, Latif, Zahid, Wali, Abdul, Ain-ul-Batool, Syeda, Khan, Abdul Rehman, Mumtaz, Sadia, Altaf, Syed Iftikhar, Khawaja, Sundus, Sadia, Khalid, Madiha, Rehman, Fazal Ur, Javid, Qudir
Publicado en Biomed Res Int (2020)

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

por Ansar, Muhammad, Jan, Abid, Santos-Cortez, Regie Lyn P, Wang, Xin, Suliman, Muhammad, Acharya, Anushree, Habib, Rabia, Abbe, Izoduwa, Ali, Ghazanfar, Lee, Kwanghyuk, Smith, Joshua D, Nickerson, Deborah A, Shendure, Jay, Bamshad, Michael J, Ahmad, Wasim, Leal, Suzanne M
Publicado en Eur J Hum Genet (2016)

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

por Ullah, Asmat, Umair, Muhammad, Yousaf, Maryam, Khan, Sher Alam, Nazim-ud-din, Muhammad, Shah, Khadim, Ahmad, Farooq, Azeem, Zahid, Ali, Ghazanfar, Alhaddad, Bader, Rafique, Afzal, Jan, Abid, Haack, Tobias B., Strom, Tim M., Meitinger, Thomas, Ghous, Tahseen, Ahmad, Wasim
Publicado en Mol Vis (2017)

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Hussain, Shobbir, Flores, Joana V., Rupp, Verena, Vincent, Akshita K., Malli, Roland, Ali, Ghazanfar, Khan, Falak Sher, Ishak, Gisele E., Doherty, Dan, Weksberg, Rosanna, Ayub, Muhammad, Windpassinger, Christian, Ibrahim, Shahnaz, Frye, Michaela, Ansar, Muhammad, Vincent, John B.
Publicado 2012

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

por Latif, Zahid, Chakchouk, Imen, Schrauwen, Isabelle, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Abbe, Izoduwa, Acharya, Anushree, Jarral, Afeefa, Ali, Imran, Ullah, Ehsan, Khan, Muhammad Nasim, Ali, Ghazanfar, Tahir, Tufail Hussain, Bamshad, Michael J., Nickerson, Deborah A., Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.
Publicado en Invest Ophthalmol Vis Sci (2018)

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

por Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie
Publicado 2010

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

por Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos-Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Deborah A, Bamshad, Michael J, Ali, Ghazanfar, Riazuddin, Saima, Ansar, Muhammad, Ahmad, Wasim, Ahmed, Zubair M, Leal, Suzanne M
Publicado en J Bone Miner Res (2018)

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

por Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Rehman, Fazal-Ur-, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
Publicado en Biomed Res Int (2021)

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

por Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.
Publicado en Am J Hum Genet (2014)

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

por Schultz, Julie M., Khan, Shaheen N., Ahmed, Zubair M., Riazuddin, Saima, Waryah, Ali M., Chhatre, Dhananjay, Starost, Matthew F., Ploplis, Barbara, Buckley, Stephanie, Velásquez, David, Kabra, Madhulika, Lee, Kwanghyuk, Hassan, Muhammad J., Ali, Ghazanfar, Ansar, Muhammad, Ghosh, Manju, Wilcox, Edward R., Ahmad, Wasim, Merlino, Glenn, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B., Morell, Robert J.
Publicado 2009

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

por Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein
Publicado 2011