Research At COMSATS

Label

Khadim Shah

	Designation:	Assistant Professor
	Email:	kshah@cuiatd.edu.pk
	Phone No. :	N/A
	Role:	Faculty
	Research Interests:	Human Molecular Genetics, Investigation the Genetic Basis of Familial Inherited diseases

Academics/ Degrees

PhD (2018): Qauid-I-Azam University Islamabad, Pakistan
MPhil (2013): Hazara University Mansehra, Pakistan
MSc (2010): University of Peshawar

Profile/Bio

Sep 2018 to Continued: Assistant Professor, Department of Environmental COMSATS University Islamabad, Abbottabad campus, Pakistan
Sep 2017 to May 2018: Postdoctoral Research Associate, Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan
Oct 2015 to Apr 2016: Research Associate, University of Colorado Denver, USA
Sep 2013 Sep 2015: Research Associate, Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan

Publications/Papers

2022

Journal

Sobia Zaman,R.Ahmad,S.Naqvi,A.Hassan,M.Shah,J.Hussain,Aziz Ullah Sayal,Dr. AM Abbasi,K. Shah,Bakht Zaman "Determination of genetic diversity, sinigrin contents, and elicitors-induced enhancement of sinigrin in Nasturtium officinale L." , Turkish Journal of Agriculture and Forestry ,Volume 46 ,Page 59-72 , 2022

K. Shah "A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase defciency in a Pakistani family: a case report" , BMC Medical Case Reports ,Volume 16 ,Page 66 , 2022

K. Shah "Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family" , Journal of Clinical Laboratory Analysis , 2022

2021

Journal

K. Shah "A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family" , European Journal of Dermatology ,Volume 31 ,Issue 3 ,Page 409-411 , 2021

2019

Journal

K. Shah "Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families" , International Journal of Dermatology ,Volume 58 ,Issue 8 ,Page 946-952 , 2019

K. Shah "BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan" , Annals of Human Genetics , 2019

K. Shah "Woodhouse-Sakati Syndrome in a Family is Associated with Homozygous Start Loss Mutation in the DCAF17 Gene" , Clinicala and Experimental Dermatology , 2019

Dr. Humaira Ayub,F. Wahid,K. Shah "Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration" , Current Molecular Medicine , 2019

K. Shah "Woodhouse‐Sakati Syndrome in a Family is Associated with Homozygous Start Loss Mutation in the DCAF17 Gene" , Clinical and Experimental Dermatology , 2019

Conference

F. Wahid,K. Shah,T.Khan "DEVELOPMENT OF CHITOSAN-SMECTITE CLAY BASED FLEXIBLE BURN WOUND DRESSING" , 1st National Conference on Current Updates in Pharmacy Profession and Research , 2019

2018

Journal

K. Shah "Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment" , BMC Medical Genetics ,Volume 19 ,Issue 1 ,Page 122 , 2018

K. Shah "Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux." , International Journal of Biochemistry and Cell Biology ,Volume 102 ,Page 76-86 , 2018

K. Shah "Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families" , Clinical and Experimental Dermatology ,Volume 43 ,Issue 6 ,Page 752-755 , 2018

K. Shah "Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance" , Journal of Human Genetics , 2018

2017

Journal

K. Shah "Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families" , International Journal of Dermatology ,Volume 56 ,Issue 12 ,Page 1406-1413 , 2017

K. Shah "Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families" , Molecular vision ,Volume 23 ,Page 482-494 , 2017

K. Shah "A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family" , British Journal of Dermatology ,Volume 178 ,Issue 2 ,Page 556-558 , 2017

K. Shah "Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb" , European Journal of Human Genetics ,Volume 25 ,Issue 8 ,Page 960-965 , 2017

K. Shah "Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families" , Congenital Anomalies ,Volume 58 ,Issue 1 ,Page 24-28 , 2017

K. Shah "A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family" , BMC Medical Genetics ,Volume 18 ,Issue 1 ,Page 42 , 2017

K. Shah "GLY67ARG substitution in RSPO4 disrupts the WNT signaling pathway due to an abnormal binding pattern with LGRs leading to anonychia" , RCS Advances ,Volume 7 ,Page 17357-17355 , 2017

K. Shah "Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing" , British Journal of Dermatology ,Volume 177 ,Issue 2 ,Page 546-548 , 2017

K. Shah "Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families" , Turkish Journal of Biology ,Page 10.3906/biy-1607-81 , 2017

2016

Journal

K. Shah "Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix" , Journal of Medical Genetics ,Volume 54 ,Issue 3 , 2016

K. Shah "A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family." , Clinical and Experimental Dermatology ,Volume 41 ,Issue 6 ,Page 675-679 , 2016

K. Shah "Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP" , BMC Medical Genetics ,Volume 13 ,Page 13 , 2016

K. Shah "Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome" , Clinical Genetics ,Volume 90 ,Issue 3 ,Page 263-269 , 2016

Associations/Memberships

Member of the American Society of Human Genetics

Awards/ Appreciations

Received an international sandwich Ph.D. fellowship for University of Colorado Denver, USA, from Higher Education Commission (HEC), Pakistan.