Publications by authors named "Jamil A Hashmi"

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Zellweger syndrome; identification of mutations in and gene in Saudi families.
Abdulfatah M Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A Hashmi, Azizah Alharbi

Ann Med· December 2025

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A programmed decline in ribosome levels governs human early neurodevelopment.
Chunyang Ni, Yudong Wei, Barbara Vona, Dayea Park, Yulei Wei, Jamil A Hashmi

Nat Cell Biol· August 2025

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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.
Naif A M Almontashiri, Aziza Mushiba, Haya Alruqi, Essa Alharby, Jamil Amjad Hashmi

Clin Genet· April 2025

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Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
Jamil A Hashmi, Sibtan Afzal, Reham M Balahmar, Muhammad Latif, Sulman Basit

Nephrology (Carlton)· January 2025

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De novo missense variant in a patient with Parkinson's disease.
Majed Alluqmani, Abdulfatah M Alayoubi, Jamil A Hashmi, Sulman Basit

Front Genet· November 2024

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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.
Jamil Amjad Hashmi, Muhammad Latif, Reham M Balahmar, Muhammad Zeeshan Ali, Fatima Alfadhli

Front Genet· August 2024

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Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.
Ahmad M Almatrafi, Abdulfatah M Alayoubi, Majed Alluqmani, Jamil A Hashmi, Sulman Basit

J Clin Med· July 2024

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Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.
Abdulfatah M Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A Hashmi, Laila Alayadhi

Sci Rep· March 2024

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Identification of Novel and Recurrent Variants in , , and Genes in Families with Metabolic Disorders in Saudi Arabia.
Muhammad Latif, Jamil Amjad Hashmi, Abdulfatah M Alayoubi, Arusha Ayub, Sulman Basit

J Clin Med· February 2024

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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, Essa Alharby, Makki Almuntashri, Jamil Amjad Hashmi

Genet Med· February 2023

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NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.
Ambreen Ijaz, Fatima Alfadhli, Azizah Alharbi, Yasir Naseem Khan, Yasser Khaled Alhawas, Jamil A Hashmi

Eur J Med Genet· October 2022

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A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian Family.
Asma Alharbi, Jamil A Hashmi, Essa Alharby, Alia M Albalawi, Khushnooda Ramzan

Hematol Oncol Stem Cell Ther· March 2022

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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, Makki Almuntashri, Essa Alharby, Jamil Amjad Hashmi

Clin Genet· May 2021

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Further Evidence of a Recessive Variant in as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.
Ahmad Almatrafi, Jamil A Hashmi, Fatima Fadhli, Asma Alharbi, Sibtain Afzal

Glob Med Genet· December 2020

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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
Jamil A Hashmi, Fatima Fadhli, Ahmed Almatrafi, Sibtain Afzal, Khushnooda Ramzan

Brain Dev· September 2020

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Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
Sulman Basit, Howaida Mohammed Al-Edressi, Mona Hamza Sairafi, Jamil Amjad Hashmi, Essa Alharby

J Nephrol· August 2020

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A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
Ahmad Almatrafi, Muhammad Umair, Amr Eldardear, Majid Al-Luqmani, Jamil A Hashmi

J Gene Med· August 2020

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A novel missense variant in the gene in patients with moderate to severe bleeding disorder.
Essa Alharby, Mohammad A Bakhsh, Alia M Albalawi, Sultan O Almutairi, Jamil A Hashmi

Platelets· July 2020

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Missense Mutations in the Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.
Alia M Albalawi, Jamil A Hashmi, Fatima Alfadhli, Ahmad Almatrafi, Khushnooda Ramzan

Ann Dermatol· February 2020

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Novel homozygous loss-of-function mutations in and genes in retinitis pigmentosa patients.
Maan Abdullah Albarry, Jamil Amjad Hashmi, Ahdab Qasem Alreheli, Alia M Albalawi, Bushra Khan

Ophthalmic Genet· December 2019

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NR2F1 mediated down-regulation of osteoblast differentiation was rescued by bone morphogenetic protein-2 (BMP-2) in human MSC.
Muthurangan Manikandan, Sarah Abuelreich, Mona Elsafadi, Hussain Alsalman, Hassan Almalak, Jamil Amjad Hashmi

Differentiation· June 2019

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A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Ahmad Almatrafi, Fatima Alfadhli, Yasir Naseem Khan, Sibtain Afzal, Jamil A Hashmi

Genet Test Mol Biomarkers· May 2019

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An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant.
Jamil Amjad Hashmi, Ahmad Almatrafi, Muhammad Latif, Abdul Nasir, Sulman Basit

Eur J Med Genet· February 2019

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Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.
Jamil Amjad Hashmi, Ramziah Ahmed Safar, Sibtain Afzal, Alia M Albalawi, Feroz Abdu-Samad

Mol Med Rep· December 2018

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TGF1-Induced Differentiation of Human Bone Marrow-Derived MSCs Is Mediated by Changes to the Actin Cytoskeleton.
Mona Elsafadi, Muthurangan Manikandan, Sami Almalki, Mohammad Mobarak, Muhammad Atteya, Jamil Amjad Hashmi

Stem Cells Int· February 2018

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