Cheema, Huma Arshad

Top Publications

Top Publications Authored or Co-Authored by "Cheema, Huma Arshad"

• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69
• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 63
• A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

  Journal of Medical Genetics, Volume 59, No. 10, Year 2022, Citations 39
• Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

  Genetics in Medicine, Volume 23, No. 8, Year 2021, Citations 37
• An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

  European Journal of Human Genetics, Volume 30, No. 9, Year 2022, Citations 36