Abid Jan
Kohat University of Science and Technology(PK)The University of Agriculture, Peshawar(PK)
Publications by Year
Research Areas
Skin and Cellular Biology Research, Hair Growth and Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Challenges and solutions for gene identification in the presence of familial locus heterogeneity(2014)38 cited
- → Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3(2017)33 cited
- → Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families(2015)31 cited
- Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.(2017)
- → A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly(2019)28 cited
- → A novel deletion mutation in theDSG4gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families(2014)26 cited
- → In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis(2014)25 cited
- → Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes(2017)22 cited
- → Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability(2015)21 cited
- → A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment(2018)20 cited