Publications by authors named "Jamil Amjad Hashmi"

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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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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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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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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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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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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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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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Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed M Almatrafi, Alia M Albalawi, Amer Mahmood

Congenit Anom (Kyoto)· January 2018

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Characterization of Cellular and Molecular Heterogeneity of Bone Marrow Stromal Cells.
Mona Elsafadi, Muthurangan Manikandan, Muhammad Atteya, Jamil Amjad Hashmi, Zafar Iqbal

Stem Cells Int· September 2016

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High frequency and poor prognosis of late childhood BCR-ABL-positive and MLL-AF4-positive ALL define the need for advanced molecular diagnostics and improved therapeutic strategies in pediatric B-ALL in Pakistan.
Zafar Iqbal, Tanveer Akhtar, Tashfin Awan, Aamer Aleem, Noreen Sabir, Jamil Amjad Hashmi

Mol Diagn Ther· October 2015

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Silicon carbide whisker-mediated embryogenic callus transformation of cotton (Gossypium hirsutum L.) and regeneration of salt tolerant plants.
Shaheen Asad, Zahid Mukhtar, Farhat Nazir, Jamil Amjad Hashmi, Shahid Mansoor

Mol Biotechnol· October 2008

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