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H. Cheema · SciRah

Researcher profile · Semantic Scholar

H. Cheema

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H. Cheema — researcher profile on SciRah

h-index: 13
Works: 93
Citations: 748

Most-cited papers

Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition.
S. Murch, P. Winyard, S. Koletzko, B. Wehner +6 more
1996The Lancet124 citations
Semantic Scholar
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, A. Nikoncuk, S. Yousefi, W. Berdowski +65 more
2019bioRxiv65 citations Open access
Semantic Scholar
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
A. Bertoli-Avella, K. Kandaswamy, Suliman Khan, Natalia Ordoñez-Herrera +33 more
2021Genetics in Medicine54 citations Open access
Semantic Scholar
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
H. Cheema, A. Bertoli-Avella, V. Skrahina, M. N. Anjum +14 more
2020npj Genomic Medicine33 citations Open access
Semantic Scholar
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
L. Almeida, C. Pereira, Ruxandra Aanicai, Sabine Schröder +32 more
2022European Journal of Human Genetics30 citations Open access
Semantic Scholar
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
H. Cheema, H. Malik, Arit Parkash, Zafar Fayyaz
2016Journal of the College of Physicians and Surgeons--Pakistan : JCPSP26 citations
Semantic Scholar
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
Ricardo Moreno Traspas, T. Teoh, Pui-Mun Wong, Michael Maier +43 more
2022Nature Genetics25 citations Open access
Semantic Scholar
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
Sadaqat Ijaz, M. Y. Zahoor, M. Imran, K. Ramzan +7 more
2017Journal of Pediatric Endocrinology & Metabolism (JPEM)23 citations
Semantic Scholar
Celiac Crisis: A Rare Or Rarely Recognized Disease.
Nadia Waheed, H. Cheema, H. Suleman, Zafar Fayyaz +2 more
2016Journal of Ayub Medical College16 citations
Semantic Scholar
Spontaneous Perforation Of Bile Duct, Clinical Presentation, Laboratory Work Up, Treatment And Outcome.
H. Malik, H. Cheema, Zafar Fayyaz, M. A. Hashmi +4 more
2016Journal of Ayub Medical College15 citations
Semantic Scholar
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore.
Arit Parkash, H. Cheema, H. Malik, Zafar Fayyaz
2016JPMA. The Journal of the Pakistan Medical Association14 citations
Semantic Scholar
Etiology, Presentation and Management of Liver Abscesses at the Childrenâ€™s Hospital Lahore
H. Cheema, Anjum Saeed
201014 citations Open access
Semantic Scholar
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
Nadia Waheed, Anjum Saeed, Sadaqat Ijaz, Zafar Fayyaz +3 more
2020Journal of Pediatric Endocrinology & Metabolism (JPEM)13 citations
Semantic Scholar
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
A. Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzì +35 more
2021Journal of Medical Genetics11 citations Open access
Semantic Scholar
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts
Muhammad Yasir Zahoor, H. Cheema, Sadaqat Ijaz, Zafar Fayyaz
2020Fetal and Pediatric Pathology11 citations
Semantic Scholar
Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types.
H. Cheema, H. Malik, M. A. Hashmi, Zafar Fayyaz +2 more
2017Journal of the College of Physicians and Surgeons--Pakistan : JCPSP11 citations
Semantic Scholar
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
Sadaqat Ijaz, M. Y. Zahoor, M. Imran, Sibtain Afzal +5 more
2016Journal of Pediatric Endocrinology & Metabolism (JPEM)11 citations
Semantic Scholar
Global insights on the diagnosis, management, and prevention of pediatric ingestions: A report from the FISPGHAN expert panel
Michael A. Manfredi, R. P. Alvarez, K. Arai, H. Cheema +7 more
2025JPGN Reports10 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Q. Thomas, M. Motta, Thierry Gautier, M. Zaki +59 more
2022American Journal of Human Genetics10 citations Open access
Semantic Scholar
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
A. Skrahin, H. Cheema, M. Hussain, N. Rana +6 more
2022Life Science Alliance10 citations Open access
Semantic Scholar
Spectrum of Clinical Presentation of Celiac Disease in Pediatric Population
Imran, H. Cheema, M. A. Alvi, M. U. Ur Rehman +2 more
2021Cureus10 citations Open access
Semantic Scholar
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
M. Y. Zahoor, H. Cheema, Sadaqat Ijaz, M. N. Anjum +2 more
2019Journal of Pediatric Endocrinology & Metabolism (JPEM)10 citations
Semantic Scholar
Effectiveness and Safety of Sofosbuvir in Treatment-NäiveChildren with Hepatitis C Infection.
M. A. Hashmi, H. Cheema
2017Journal of the College of Physicians and Surgeons--Pakistan : JCPSP10 citations
Semantic Scholar
Detection of common mutations in the GALT gene through ARMS.
Umair Mahmood, M. Imran, Shariful Islam Naik, H. Cheema +3 more
2012Gene10 citations
Semantic Scholar
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients
H. Cheema, Iqra Rasool, M. N. Anjum, M. Y. Zahoor
2020Pakistan Journal of Medical Sciences9 citations Open access
Semantic Scholar
Electrocardiographic Manifestations In Paediatric Wilson Disease.
Syeda Sara Batool Hamdani, H. Cheema, Anjum Saeed, H. Malik +1 more
2017Journal of Ayub Medical College9 citations
Semantic Scholar
CLINICAL PRESENTATION, AETIOLOGY AND COMPLICATIONS OF PANCREATITIS IN CHILDREN.
Zafar Fayyaz, H. Cheema, H. Suleman, M. A. Hashmi +2 more
2015Journal of Ayub Medical College9 citations
Semantic Scholar
Hookworm infestation in children presenting with melena-case series.
Anjum Saeed, H. Cheema, A. Alvi, H. Suleman
20089 citations
Semantic Scholar
Berardinelli-Seip Congenital Generalised Lipodystrophy.
H. Cheema, H. Malik, Nadia Waheed, I. Mushtaq +2 more
2018Journal of the College of Physicians and Surgeons--Pakistan : JCPSP8 citations
Semantic Scholar
Clinical Spectrum Of Solitary Rectal Ulcer In Children Presenting With Per-Rectal Bleed.
M. N. Anjum, H. Cheema, H. Malik, M. A. Hashmi
2017Journal of Ayub Medical College8 citations
Semantic Scholar
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
S. Efthymiou, C. Leo, C. Deng, Sheng-Jia Lin +96 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar
Vitamin D Intoxication In 7-Month-Old Infant With Recommended Daily Intake Of Vitamin D.
Nadia Waheed, H. Cheema, Anjum Saeed, M. A. Alvi +3 more
2019Journal of Ayub Medical College7 citations
Semantic Scholar
Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias.
Bibi Zubaida, H. Cheema, M. A. Hashmi, M. Naeem
2019Clinical Biochemistry7 citations
Semantic Scholar
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
Filipa Curado, S. Rösner, Susanne Zielke, G. Westphal +21 more
2023Diagnostics6 citations Open access
Semantic Scholar
Rare presentation of haemobilia and Loeffler’s pneumonia in a child by ascaris lumbricoides
H. Cheema, Nadia Waheed, Anjum Saeed
2019BMJ Case Reports6 citations Open access
Semantic Scholar
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, C. Rocca, S. Efthymiou +125 more
2024Genetics in Medicine5 citations Open access
Semantic Scholar
Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports
S. ur Rehman, Sommayya Aftab, A. Naseem, Anjum Saeed +1 more
2023Cureus5 citations Open access
Semantic Scholar
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report
Sommayya Aftab, T. Shaheen, Rameen Asif, M. N. Anjum +3 more
2022Journal of Pediatric Endocrinology & Metabolism (JPEM)5 citations
Semantic Scholar
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
H. Cheema, Nadia Waheed, Anjum Saeed
2022Journal of the College of Physicians and Surgeons--Pakistan : JCPSP5 citations Open access
Semantic Scholar
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.
H. Cheema, Nadia Waheed, Anjum Saeed, Zafar Fayyaz +3 more
2021JPMA. The Journal of the Pakistan Medical Association5 citations Open access
Semantic Scholar
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, C. Tesson, Plamena R. Angelova, Jose A. Rodriguez +88 more
2026Nature Communications4 citations Open access
Semantic Scholar
The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
H. Cheema, Nadia Waheed, Anjum Saeed, M. N. Anjum +2 more
2023JPMA. The Journal of the Pakistan Medical Association4 citations Open access
Semantic Scholar
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
Sommayya Aftab, S. Khan, M. Malik, A. Imran +4 more
2022Journal of Pediatric Endocrinology & Metabolism (JPEM)4 citations
Semantic Scholar
Unusual case of Juvenile Tay-Sachs disease
H. Cheema, Nadia Waheed, Anjum Saeed
2019BMJ Case Reports4 citations Open access
Semantic Scholar
Hepatitis Aand E Co-Infection with Worst Outcome.
Anjum Saeed, H. Cheema, Asaad M. Assiri
2016Journal of the College of Physicians and Surgeons--Pakistan : JCPSP4 citations
Semantic Scholar
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Fatima Rahman, Luisa Marsili, D. Pasquetti, Aboulfazl Rad +10 more
2024European Journal of Human Genetics3 citations Open access
Semantic Scholar
A transposase-derived gene required for human brain development
Luz Jubierre Zapater, Sara A. Lewis, R. L. Gutierrez, M. Yamada +37 more
2023bioRxiv3 citations Open access
Semantic Scholar
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children
H. Cheema, Zafar Fayyaz, Anjum Saeed, M. N. Anjum +3 more
2023The Turkish Journal of Gastroenterology3 citations Open access
Semantic Scholar
Indicators Of Hepatopulmonary Syndrome In Patients With Portal Hypertension. Its Various Aetiologies, Clinical Presentations And Outcome.
I. Mushtaq, H. Cheema, H. Malik, Nadia Waheed
2021Journal of Ayub Medical College3 citations
Semantic Scholar
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
H. Cheema, A. Bertoli-Avella, V. Skrahina, M. N. Anjum +14 more
2020npj Genomic Medicine3 citations Open access
Semantic Scholar

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