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Huma Arshad Cheema

Observed names: Cheema Huma Arshad, Cheema, H, Cheema, Huma Arshad, Huma A Cheema, Huma A. Cheema, Huma Ashraf Cheema, Huma Cheema, HumaArshad Cheema, Huma Arshad Cheema
ORCID: 0000-0002-0463-687X
Observed ORCID: 0000-0002-0463-687X
OpenAlex ID: A5041149168
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
2019 · Elena Perenthaler, Anita Nikoncuk, et al. · Acta Neuropathologica · 67
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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
2021 · Aida M. Bertoli-Avella, Krishna K. Kandaswamy, et al. · Genetics in Medicine · 63
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
2019 · Emily Gao, Huma Cheema, et al. · Hepatology · 48
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
2020 · Huma Cheema, Aida M. Bertoli-Avella, et al. · npj Genomic Medicine · 40
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Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
2017 · Sadaqat Ijaz, Muhammad Yasir Zahoor, et al. · Journal of Pediatric Endocrinology and Metabolism · 32
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
2022 · Ligia S. Almeida, Catarina Pereira, et al. · European Journal of Human Genetics · 31
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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
2022 · Ricardo Moreno Traspas, Tze Shin Teoh, et al. · Nature Genetics · 27
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Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
2016 · Huma Arshad Cheema, Hassan Suleman Malik, et al. · PubMed · 27
Effectiveness and Safety of Sofosbuvir in Treatment-NäiveChildren with Hepatitis C Infection.
2017 · Muhammad Almas Hashmi, Huma Arshad Cheema · PubMed · 18
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore.
2016 · Arit Parkash, Huma Arshad Cheema, et al. · PubMed · 17
Spectrum of Clinical Presentation of Celiac Disease in Pediatric Population
2021 · Imran ., Huma Arshad Cheema, et al. · Cureus · 14
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Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
2020 · Nadia Waheed, Anjum Saeed, et al. · Journal of Pediatric Endocrinology and Metabolism · 14
Celiac Crisis: A Rare Or Rarely Recognized Disease.
2016 · Nadia Waheed, Huma Arshad Cheema, et al. · PubMed · 13
Spontaneous Perforation Of Bile Duct, Clinical Presentation, Laboratory Work Up, Treatment And Outcome.
2016 · Hassan Suleman Malik, Huma Arshad Cheema, et al. · PubMed · 13
Etiology, Presentation and Management of Liver Abscesses at the Children’s Hospital Lahore
2010 · Huma Arshad Cheema, Anjum Saeed · Annals of King Edward Medical University · 13
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
2025 · Stephanie Efthymiou, Cailyn P. Leo, et al. · The American Journal of Human Genetics · 12
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts
2019 · Muhammad Yasir Zahoor, Huma Arshad Cheema, et al. · Fetal and Pediatric Pathology · 12
Detection of common mutations in the GALT gene through ARMS
2012 · Umair Mahmood, Muhammad Imran, et al. · Gene · 12
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
2026 · Francesca Magrinelli, Christelle Tesson, et al. · Nature Communications · 11
Global insights on the diagnosis, management, and prevention of pediatric ingestions: A report from the FISPGHAN expert panel
2025 · Michael A. Manfredi, Reinaldo P. Alvarez, et al. · JPGN Reports · 11
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Secondary findings in a large Pakistani cohort tested with whole genome sequencing
2023 · Aliaksandr Skrahin, Huma Arshad Cheema, et al. · Life Science Alliance · 11
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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
2021 · Aida Bertoli-Avella, Ronja Hotakainen, et al. · Journal of Medical Genetics · 11
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Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
2019 · Muhammad Yasir Zahoor, Huma Arshad Cheema, et al. · Journal of Pediatric Endocrinology and Metabolism · 11
A transposase-derived gene required for human brain development
2026 · Luz Jubierre Zapater, Sara A. Lewis, et al. · Science Advances · 10
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
2022 · Quentin Thomas, Marialetizia Motta, et al. · The American Journal of Human Genetics · 10
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Works count: 94
Citation count: 741
H-index: 13
I10-index: 29
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