Abdul Hameed

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Inclusion identifies researchers whose recorded research contributions may inform their university’s understanding of its research community. It does not rank individual research quality or establish current employment.

Selected research works

Up to 100 highly cited works; DOI links open the original research. Counts reflect the collected record, not real-time citation totals.

1. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

   1999 · 151 citations

2. A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

   2015 · 143 citations

3. Mutation of ATF6 causes autosomal recessive achromatopsia

   2015 · 83 citations

4. A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32

   1998 · 44 citations

5. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

   2000 · 41 citations

6. Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin

   1999 · 35 citations

7. Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)

   1999 · 32 citations

8. Mutation screening of Pakistani families with congenital eye disorders

   2003 · 25 citations

9. Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family

   2011 · 21 citations

10. A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.

    2002 · 19 citations

11. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

    2018 · 18 citations

12. Male infertility is significantly associated with multiple deletions in an 8.7-kb segment of sperm mtDNA in Pakistan

    2017 · 13 citations

13. In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

    2016 · 9 citations

14. Application of Short Tandem Repeat markers in diagnosis of chromosomal aneuploidies and forensic DNA investigation in Pakistan

    2014 · 8 citations

15. MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family

    2012 · 4 citations

16. Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis

    2014 · 4 citations

17. In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

    2013 · 1 citations

18. Molecular study of a consanguineous family with autosomal recessive mental retardation and speech disorder

    2012 · 1 citations

19. Genetic of Eye Diseases

    2013 · 0 citations

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