Publications by authors named "Saima Siddiqi"

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Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and functional characterization.
Maha Yousaf, Ayesha Zaka, Shaheen Shahzad, Hadi Zahid Rao, Jia Nee Foo, Saima Siddiqi

J Biomol Struct Dyn· October 2025

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Biallelic Variant in SLC6A17 in a Pakistani Family With Autosomal Recessive Intellectual Disability.
Malik Ali Asghar, Rukhsana Nazir, Saima Siddiqi, Noor Ul Ain

Clin Genet· September 2025

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Structural and functional insights into a novel homozygous missense pathogenic variant in identified in consanguineous Pakistani family.
Ayesha Zaka, Maha Yousaf, Shaheen Shahzad, Hadi Zahid Rao, Jia Nee Foo, Saima Siddiqi

J Biomol Struct Dyn· July 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Saima Siddiqi

Brain· December 2023

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Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.
Saima Siddiqi, Noor Ul Ain, Mehran Kauser, Zahra Mukhtar, Muhammad Ansar

Mol Biol Rep· September 2023

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Antecedent infections, recent developments and future directions in Guillain-Barré syndrome.
Rashid Iqbal, Muhammad Javaid Asad, Raja Tahir Mahmood, Muhammad Basir Shah, Zahida Nawaz, Saima Siddiqi

J Pak Med Assoc· January 2023

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Case report: Expanding the phenotype of mutations from increased intracranial aneurysm risk to a neurodevelopmental disease.
Ethiraj Ravindran, Noor Ullah, Shyamala Mani, Elaine Guo Yan Chew, Moses Tandiono, Saima Siddiqi

Front Neurol· October 2022

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Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan.
Muhammad Shakeel, Muhammad Irfan, Zaib Un Nisa, Saba Farooq, Noor Ul Ain, Saima Siddiqi

Transbound Emerg Dis· September 2022

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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Saima Siddiqi

BMC Musculoskelet Disord· August 2022

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Study of Guillain-Barre syndrome etiology in Pakistani patients.
Rashid Iqbal, Muhammad Javaid Asad, Saima Siddiqi, Raja Tahir Mahmood, Muhamamd Basir Shah

J Pak Med Assoc· November 2021

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Clinical and biochemical profile of Guillain Barré Syndrome in Pakistan.
Rashid Iqbal, Muhammad J Asad, Muhammad B Shah, Raja T Mahmood, Saima Siddiqi

Neurosciences (Riyadh)· July 2021

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Direct-acting antiviral agents in the treatment of chronic hepatitis C-Real-life experience from clinical practices in Pakistan.
Saima Mushtaq, Atika Mansoor, Muhammad Umar, Amjad Khan, Saima Siddiqi

J Med Virol· December 2020

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Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Amir Hayat, Shabir Hussain, Muhammad Bilal, Mehran Kausar, Bader Almuzzaini, Saima Siddiqi

Eur J Med Genet· August 2020

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REPORT - CYP2D6*4 null allele frequency in sixteen Pakistani ethnic groups.
Anwar Ullah, Sana Riaz, Saima Siddiqi, Kehkashan Mazhar, Atika Mansoor

Pak J Pharm Sci· March 2020

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Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie

J Biomed Sci· April 2019

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A Novel Homozygous Frameshift Variant in Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.
Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Saima Siddiqi

Front Genet· March 2019

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MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.
Noor Ullah, Atika Mansoor, Shazia Micheal, Bushra Mirza, Raheel Qamar, Saima Siddiqi

Per Med· January 2019

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Genetic Polymorphism of CYP2C19 in Pakistani Population.
Sana Riaz, Sadia Muhammad Din, Muhammad Usman Tareen, Fizza Tariq, Yusra Latif, Saima Siddiqi

Iran J Pharm Res· January 2019

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Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie

J Biomed Sci· November 2018

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Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi

BMC Med Genet· December 2017

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Genetics of vascular dementia - review from the ICVD working group.
M Arfan Ikram, Anna Bersano, Raquel Manso-Calderón, Jian-Ping Jia, Helena Schmidt, Saima Siddiqi

BMC Med· March 2017

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Saima Siddiqi

Dis Model Mech· February 2017

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Population-level differences in revascularization treatment and outcomes among various United States subpopulations.
Garth Graham, Yang-Yu Karen Xiao, Dan Rappoport, Saima Siddiqi

World J Cardiol· January 2016

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A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L Silver

PLoS One· August 2015

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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
Saima Siddiqi, Muhammad Ismail, Jaap Oostrik, Saba Munawar, Atika Mansoor

J Hum Genet· December 2014

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