Dr. Khadim Shah, PhD - COMSATS University Islamabad, Abbottabad Campus - Assistant Professor

Dr. Khadim Shah

PhD

COMSATS University Islamabad, Abbottabad Campus

Assistant Professor

Abbottabad, KPK | Pakistan

Main Specialties: Medical Genetics

Additional Specialties: Human Molecular Genetics

ORCID logohttps://orcid.org/0000-0001-9464-9262

Dr. Khadim Shah, PhD - COMSATS University Islamabad, Abbottabad Campus - Assistant Professor

Dr. Khadim Shah

PhD

Introduction

Primary Affiliation: COMSATS University Islamabad, Abbottabad Campus - Abbottabad, KPK , Pakistan

Specialties:

Additional Specialties:

Research Interests:


View Dr. Khadim Shah’s Resume / CV

Education

Sep 2013
Quaid-i-Azam University
PhD
Biochemistry

Experience

Sep 2018
COMSATS University Islamabad, Abbottabad Campus
Assistant Professor
Biotechnology

Publications

10Publications

322Reads

-Profile Views

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Int J Biochem Cell Biol 2018 09 18;102:76-86. Epub 2018 Jul 18.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13572725183015
Publisher Site
http://dx.doi.org/10.1016/j.biocel.2018.07.004DOI Listing
September 2018
10 Reads
4.046 Impact Factor

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

BMC Med Genet 2018 07 20;19(1):122. Epub 2018 Jul 20.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12881-018-0618-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831PMC
July 2018
20 Reads
2.083 Impact Factor

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

Mol Vis 2017 21;23:482-494. Epub 2017 Jul 21.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524433PMC
April 2018
26 Reads
1.986 Impact Factor

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.

Congenit Anom (Kyoto) 2018 Jan 12;58(1):24-28. Epub 2017 Jun 12.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.

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http://dx.doi.org/10.1111/cga.12226DOI Listing
January 2018
5 Reads
0.783 Impact Factor

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Eur J Hum Genet 2017 08 10;25(8):960-965. Epub 2017 May 10.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/ejhg.2017.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567151PMC
August 2017
61 Reads
4.349 Impact Factor

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

BMC Med Genet 2017 04 12;18(1):42. Epub 2017 Apr 12.

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
Publisher Site
http://dx.doi.org/10.1186/s12881-017-0402-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389142PMC
April 2017
13 Reads
2.083 Impact Factor

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of and is allelic with dominant monilethrix.

J Med Genet 2017 03 13;54(3):186-189. Epub 2016 Dec 13.

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104107DOI Listing
March 2017
16 Reads
6.335 Impact Factor

Top co-authors

Wasim Ahmad
Wasim Ahmad

Quaid-i-Azam University

9
Michael J Bamshad
Michael J Bamshad

University of Washington

4
Deborah A Nickerson
Deborah A Nickerson

University of Washington

4
Muhammad Umair
Muhammad Umair

Dow Medical College,Karachi/ King Khalid Hospital, KSA

4
Suzanne M Leal
Suzanne M Leal

Baylor College of Medicine

4
Muhammad Ansar
Muhammad Ansar

Quaid-i-Azam University

4
Farooq Ahmad
Farooq Ahmad

St Andrew's Hospital

3
Kwanghyuk Lee
Kwanghyuk Lee

Baylor College of Medicine

3
Izoduwa Abbe
Izoduwa Abbe

Center for Statistical Genetics

3