Publications by authors named "Fizza Akbar"

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Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.
Syed Ibrahim Bukhari, Fizza Akbar, Salman Kirmani, Zehra Fadoo, Asim Fakhruddin Belgaumi

Expert Rev Hematol· December 2025

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Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Tinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili, Gocha Chikvinidze, Angelica Maria Delgado Vega, Fizza Akbar

Am J Med Genet A· September 2025

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A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.
Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan

J Med Case Rep· August 2025

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Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.
Fizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, Najia Minhas Ali, Zohra Hasan Ali

Prenat Diagn· June 2025

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Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.
Sibtain Ahmed, Ling Cai, Fizza Akbar, Ayra Siddiqui, Ralph J DeBerardinis

Scand J Clin Lab Invest· October 2024

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Esophageal squamous cell carcinoma in a patient with mutation: a rare association.
Mohammad Saad Salim Naviwala, Mirza Rameez Samar, Daania Shoaib, Fizza Akbar, Romana Idrees

Ecancermedicalscience· July 2024

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The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Fizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid, Shahnaz Ibrahim, Bushra Afroze

Am J Med Genet A· October 2023

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Prophylactic Risk-Reducing Mastectomy (PRRM): A Set Practice or Catch-22 Situation in LMIC. A Single-Centre Prospective Cohort Study.
Mehwish Mooghal, Lubna M Vohra, Wajiha Khan, Fizza Akbar

World J Surg· September 2023

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Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
Sibtain Ahmed, Fizza Akbar, Ralph J DeBerardinis, Min Ni, Bushra Afroze

J Pediatr Endocrinol Metab· August 2023

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Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country.
Amna Hanif, Fizza Akbar, Salman Kirmani, Amyna Jaffarali, Ghulam Zainab

BMC Pregnancy Childbirth· June 2023

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Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Fizza Akbar, Raisa Saleh, Salman Kirmani, Prem Chand, Khairunnisa Mukhtiar

Epilepsy Behav Rep· November 2022

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Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income country.
Lubaina Ehsan, Muhammad Talha Waheed, Fizza Akbar, Zahraa Siddiqui, Abida K Sattar

J Genet Couns· August 2022

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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).
Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

Case Rep Genet· August 2022

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Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
Fizza Akbar, Zahraa Siddiqui, Muhammad Talha Waheed, Lubaina Ehsan, Syed Ibaad Ali

Hered Cancer Clin Pract· June 2022

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Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
Sibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali, Bushra Afroze

J Pediatr Endocrinol Metab· March 2022

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar

Genet Med· October 2021

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Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry.
Ayat Siddiqui, Laila Akbar Ladak, Abdul Momin Kazi, Sidra Kaleem, Fizza Akbar

JMIR Res Protoc· June 2021

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Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Sibtain Ahmed, Min Ni, Ralph J DeBerardinis, Anasufiza Habib, Fizza Akbar

Clin Lab· June 2021

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