Publications by authors named "Mohsin Shahzad"

25Publications

Mouse Models of Human Pathogenic Variants of Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Genes (Basel) 2020 Sep 24;11(10). Epub 2020 Sep 24.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/genes11101122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598720PMC
September 2020

Novel Mutations in , , , and Identified in Familial Cases of Prelingual Hearing Loss.

Genes (Basel) 2020 Aug 22;11(9). Epub 2020 Aug 22.

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.3390/genes11090978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564084PMC
August 2020

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Hum Genet 2020 Dec 19;139(12):1565-1574. Epub 2020 Jun 19.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s00439-020-02197-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572817PMC
December 2020

Tariff determination for municipal waste management power projects in Pakistan.

Waste Manag Res 2020 Aug 28;38(8):851-856. Epub 2020 Apr 28.

School of Economics and Management, Dalian University of Technology, Dalian, Liaoning, People's Republic of China.

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http://dx.doi.org/10.1177/0734242X20916510DOI Listing
August 2020

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Biochem Genet 2017 Dec 31;55(5-6):410-420. Epub 2017 Oct 31.

Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.

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http://dx.doi.org/10.1007/s10528-017-9828-3DOI Listing
December 2017

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Pigment Cell Melanoma Res 2016 Mar 18;29(2):231-5. Epub 2015 Dec 18.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://doi.wiley.com/10.1111/pcmr.12438
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062593PMC
http://dx.doi.org/10.1111/pcmr.12438DOI Listing
March 2016

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Eur J Hum Genet 2015 Apr 23;23(4):473-80. Epub 2014 Jul 23.

1] Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Pakistan [2] Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2014.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666578PMC
April 2015

Molecular and clinical studies of X-linked deafness among Pakistani families.

J Hum Genet 2011 Jul 2;56(7):534-40. Epub 2011 Jun 2.

National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143270PMC
July 2011

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Am J Hum Genet 2010 Mar 18;86(3):378-88. Epub 2010 Feb 18.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833391PMC
March 2010