Publications by authors named "Huma Cheema"

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Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, Aida M Bertoli-Avella, Marta Gómez-Chiari, Huma Cheema

Brain Commun· October 2025

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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, Mariasavina Severino, Raffaella De Pace, Huma Arshad Cheema

Brain· October 2025

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Global insights on the diagnosis, management, and prevention of pediatric ingestions: A report from the FISPGHAN expert panel.
Michael A Manfredi, Reinaldo P Alvarez, Katsuhiro Arai, Huma A Cheema, Andy Darma

JPGN Rep· August 2025

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Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.
Sommayya Aftab, Muhammad Nadeem Anjum, Nida Aslam, Syed Saddam Hussain, Kashan Arshad, Huma Arshad Cheema

Horm Res Paediatr· August 2025

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Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.
Noor-Ul-Ain Mehak, Sommayya Aftab, Abid Ali Qureshi, Anjum Saeed, Huma Arshad Cheema

J Pediatr Endocrinol Metab· July 2025

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Huma Arshad Cheema

Am J Hum Genet· May 2025

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Stepping back from the brink: time for reason and rapprochement between India and Pakistan.
Zulfiqar A Bhutta, Sanjay Nagral, Srinath Reddy, Tayyaba Butt, Iqbal A Memon, Huma Cheema

BMJ· May 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Huma Arshad Cheema

Genet Med· April 2025

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Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.
Fatima Rahman, Luisa Marsili, Domizia Pasquetti, Aboulfazl Rad, Muhammad Nadeem Anjum, Huma Arshad Cheema

Eur J Hum Genet· April 2025

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Gabriel N Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Huma Arshad Cheema

Brain· April 2025

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Diabetes and mutation; are they really linked together?
Kashan Arshad, Aamir Naseem, Syed Saddam Hussain, Noor-Ul-Ain Mehak, Awais Muhammad Butt, Huma Arshad Cheema

J Pediatr Endocrinol Metab· October 2024

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A transposase-derived gene required for human brain development.
Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada, Elias Rodriguez-Fos, Huma Arshad Cheema

bioRxiv· August 2024

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Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Gabriel Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Huma Arshad Cheema

medRxiv· May 2024

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Aromatase deficiency due to novel mutation: a rare cause of maternal and fetal virilization.
Aamir Naseem, Muhammad Zahid, Kashan Arshad, Syed Saddam Hussain, Sommayya Aftab, Huma Arshad Cheema

Case Rep Perinat Med· January 2024

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Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, Muhammad Nadeem Anjum, Sadaqat Ijaz

Turk J Gastroenterol· October 2023

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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, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Huma Cheema

Diagnostics (Basel)· August 2023

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The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
Huma Arshad Cheema, Nadia Waheed, Anjum Saeed, Muhammad Nadeem Anjum, Zafar Fayyaz

J Pak Med Assoc· August 2023

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Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.
Saad Ur Rehman, Sommayya Aftab, Aamir Naseem, Anjum Saeed, Huma Arshad Cheema

Cureus· May 2023

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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Aliaksandr Skrahin, Huma Arshad Cheema, Maqbool Hussain, Nuzhat Noureen Rana, Khalil Ur Rehman

Life Sci Alliance· March 2023

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Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by mutation in resource limited countries.
Sommayya Aftab, Sabeen Abid Khan, Munir Iqbal Malik, Ahmed Imran, Muhammad Nadeem Anjum, Huma Arshad Cheema

J Pediatr Endocrinol Metab· February 2023

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Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.
Sommayya Aftab, Tahir Shaheen, Rameen Asif, Muhammad Nadeem Anjum, Anjum Saeed, Huma Arshad Cheema

J Pediatr Endocrinol Metab· November 2022

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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.
Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S Zaki, Andrea Ciolfi, Huma Cheema

Am J Hum Genet· October 2022

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Huma Arshad Cheema

Eur J Hum Genet· September 2022

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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Huma Arshad Cheema

Nat Genet· August 2022

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Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.
Nadia Waheed, Anjum Saeed, Huma Arshad Cheema

J Coll Physicians Surg Pak· February 2022

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