Tayyaba Ishaq, BS, MPhil

Bone Diseases, Developmental; Musculoskeletal Abnormalities; Analytical, Diagnostic and Therapeutic Techniques and Equipment

• Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2022, 37: 1642-1652. PMID: 35748595, PMCID: PMC9545074, DOI: 10.1002/jbmr.4639.
• Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Journal Of Medical Genetics 2021, 58: 351-356. PMID: 32591345, DOI: 10.1136/jmedgenet-2020-106929.
• RIN2 and BBS7 variants as cause of a coincidental syndrome.Shaukat M, Ishaq T, Muhammad N, Naz S. RIN2 and BBS7 variants as cause of a coincidental syndrome. European Journal Of Medical Genetics 2020, 63: 103755. PMID: 31521835, DOI: 10.1016/j.ejmg.2019.103755.
• Risk assessment and biofilm formation of bacterial communities associated with drinking water distribution systemT. Ishaq and B. Ali* DOI: 10.22438/jeb/39/5/MRN-713