Huma Arshad Cheema

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

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Huma Arshad Cheema, Aida M. Bertoli‐Avella, Volha Skrahina et al. · npj Genomic Medicine · 2020 · 42 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea

Emily Gao, Huma Arshad Cheema, Nadia Waheed et al. · Hepatology · 2019 · 41 citations · Full text

Medicine, Biochemistry, Pathobiology +15

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai et al. · European Journal of Human Genetics · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17