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Journal of Human Genetics|March 2, 2023
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational modelsTahira Batool, Saba Irshad, Muhammad Riaz, et al.
Cancer Management and Research|February 19, 2019
Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospitalFaisal Gulzar, Muhammad Shoaib Akhtar, Rafshan Sadiq, et al.
JPMA. the Journal of the Pakistan Medical Association|December 20, 2019
Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani familyShoaib Ur Rehman, Shahid Mahmood Baig, Larse Hasen, et al.
European Journal of Dermatology : EJD|January 20, 2012
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12Sadia Nawaz, Muhammad Tariq, Ilyas Ahmad, et al.
Human Genetics|July 2, 2013
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani familyMuhammad Farooq, Hiroyuki Nakai, Atsushi Fujimoto, et al.
Psychiatry Investigation|October 19, 2017
Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani PopulationAmbrin Fatima, Muhammad Farooq, Uzma Abdullah, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndromeSadia Nawaz, Joakim Klar, Muhammad Wajid, et al.
BMC Medical Genetics|June 26, 2014
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophyJens Schuster, Tahir Naeem Khan, Muhammad Tariq, et al.
Bioconjugate Chemistry|December 4, 2018
Fluorescence Guided Sentinel Lymph Node Mapping: From Current Molecular Probes to Future Multimodal NanoprobesSadaf Hameed, Hong Chen, Muhammad Irfan, et al.
Molecular Biology Reports|October 25, 2025
A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucomaIram Anjum, Komal Aslam, Tabitha Mavish Jamil, et al.
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