Name | Jamil Ahmad |
Designation | Professor |
Department | Department of Biotechnology |
Faculty | Life Sciences and Informatics |
E-mail address | Official | jamil.ahmad@buitms.edu.pk |
Telephone Number | Office Extension | 081-111-717-111 |
QUALIFICATIONS |
Year | Degree/Certificate | Name of the Institute/ University | Field of study |
2007-2010 | Post Doctorate | WHO-IARC, Lyon, France | Molecular Genetics |
2002-2006 | PhD | CEMB, University of the Punjab, Lahore | Molecular Biology |
2000-2001 | M.Phil | CEMB, University of the Punjab, Lahore | Molecular Biology |
1999 | M.Sc | University of the Punjab, Lahore | Botany |
RESEARCH PUBLICATIONS (Selected) |
S. No | Title of Paper | Name of Journal | Impact factor | Publication year |
1 | Protein truncating variants in BRIP1 are not associated with breast cancer risk: implications for gene panel testing | Journal of Medical Genetics | 6.3 | In press |
2 | Mutations in ZAK cause limb defects in humans and mouse | American Journal of Human Genetics | 11.2 | In press |
3 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Nature Genetics | 29.3 | 2015 |
4 | STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly | Human Genetics | 4.8 | 2015 |
5 | Genetic characterization of the Makrani people of Pakistan from mitochondrial DNA control-region data. | Legal Medicine | 1.2 | 2015 |
6 | Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. | Clinical and Experimental Dermatology | 2.3 | 2015 |
7 | Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe | Eur J Hum Genet | 4.3 | 2014 |
8 | Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood | Brain | 9.1 | 2014 |
9 | Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism | Clin Exp Dermatol | 2.3 | 2014 |
10 | Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin. | Mol Biol Rep | 2.5 | 2014 |
11 | Risk factors for lung cancer in the Pakistani population | Asian Pac J Cancer Prev | 1.1 | 2014 |
12 | Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation | Am J Med Genet A | 2.1 | 2013 |
13 | An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group | Human Genetics | 4.8 | 2012 |
14 | A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly | Eur J Med Genet | 4.3 | 2012 |
15 | A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family | Mol Biol Rep | 2.5 | 2012 |
16 | Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan | Clin Genet | 3.3 | 2012 |
17 | Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome | Mol Biol Rep | 2.5 | 2012 |
18 | Various aspects, patterns and risk factors in breast cancer patients of Balochistan | Asian Pac J Cancer Prev | 1.1 | 2012 |
19 | Loss-of-Function Mutations of ILDR1 Cause Autosomal Recessive Hearing Impairment DFNB42 | Am J Hum Genet | 11.2 | 2011 |
20 | Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts | Mol Vis | 2.5 | 2011 |
21 | Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan | Clin Genet | 3.3 | 2010 |
22 | Prevalence of hepatitis C virus (HCV) genotypes in Balochistan | Mol Bio Rep | 2.5 | 2009 |
23 | Genetic Variability at seven codons of the prion protein gene in famous Pakistani sheep | J Gen | 1.5 | 2008 |
24 | Frequencies of PrP genotypes and their implication for breeding against scrapie susceptibility in nine Pakistani sheep breeds | Mol Biol Rep | 2.5 | 2009 |
25 | A novel HSF4 gene mutation (R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan | BMC Medical Genetics | 2.5 | 2008 |
26 | Genome wide Significant Linkage to Stuttering on Chromosome 12 | Am J Hum Genet | 11.2 | 2005 |
27 | A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. | Hum Genet | 4.8 | 2005 |
28 | DFNB48, a new nonsyndromic recessive deafness locus maps to chromosome 15q23-q25.1 | Hum Genet | 4.8 | 2005 |
29 | PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 | Hum Mol Genet | 6.3 | 2003 |
PHD/MS STUDENTS SUPERVISED |
26 MS/PhD students supervised |
WORK EXPERIENCE |
S. No | From (year) | To (year) | Name of the Institution/ Organization | Position held |
1 | April 2014 | To-date | BUITEMS, Quetta | Professor / Dean |
2 | January 2011 | April 2014 | BUITEMS, Quetta | Associate Professor |
3 | September 2006 | December 2010 | BUITEMS, Quetta | Assistant Professor |
4 | September 2005 | September 2006 | BUITEMS, Quetta | Lecturer |
5 | March 2002 | September 2005 | CEMB, University of the Punjab, Lahore | PhD Research Scholar |
6 | March 2000 | December 2001 | CEMB, University of the Punjab, Lahore | M.Phil Research Scholar |
AREA OF SPECIALIZATION | Cancer Genetics / Human Genetics / Gene Manipulation |
EXPERTISE | Molecular Biology |
HEC APPROVED SUPERVISOR | Yes |
If Yes, provide HEC URL | e.g. http://sc.hec.gov.pk/aphds/ |
Research grants/ Projects | 1- Study of basal breast cancer cases from Pakistan ( WHO-IARC Funded) 2- Identification of new genes responsible for recessive mental retardation in Pakistani population (HEC funded) |
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