Concepedia

Shagufta Khaliq

SK

Statistics

Publications

41

Citations

2K

H-Index

26

Active since

1998

Affiliations

Institute of Biomedical and Genetic Engineering(Current)

Sindh Institute of Urology and Transplantation

University of Health Sciences Lahore

University College London

Institute of Ophthalmology

Shagufta Khaliq is an author at Institute of Biomedical and Genetic Engineering specializing in medicine, genetics, and genetic variation.

ORCID

Top concepts

Publications per year

1998–2022

41

Publications

41

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan et al. · Nature Genetics · 2000 · 287 citations · Full text

, , +6

Refined Geographic Distribution of the Oriental <i>ALDH2*504Lys</i> (nee <i>487Lys</i>) Variant

Hui Li, S. A. Borinskaya, Kimio Yoshimura et al. · Annals of Human Genetics · 2009 · 271 citations · Full text

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

Vanita Berry, Donna S. Mackay, Shagufta Khaliq et al. · Human Genetics · 1999 · 129 citations

, , +6

Geographically Separate Increases in the Frequency of the Derived ADH1B*47His Allele in Eastern and Western Asia

Hui Li, Namita Mukherjee, Usha Soundararajan et al. · The American Journal of Human Genetics · 2007 · 99 citations · Full text

, , +7

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Lev Prasov, Tehmina Masud, Shagufta Khaliq et al. · Human Molecular Genetics · 2012 · 75 citations · Full text

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