Publications by authors named "Asif Mir"

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Asif Mir

Am J Hum Genet· November 2025

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Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia.
Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir

Ann Neurol· October 2025

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Non-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan.
Ibrar Rafique, Asif Mir, Natalija Popovic, Alix Vanpoperinghe, Muhammad Arif Nadeem Saqib

Diabetes Res Clin Pract· September 2025

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Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families.
Iftikhar Ahmed, Muhammad Muzammal, Muzammil Ahmad Khan, Hafiz Ullah, Arshad Farid, Asif Mir

Biochem Genet· August 2024

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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Asif Mir

Brain· April 2024

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Orchestration of Genetic Alterations in and Genes in Development of Alzheimer's Disease through Computational Analysis.
Asif Mir, Zainab Kamran, Wajid Iqbal

Glob Med Genet· January 2024

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A Novel Variant in Underlying Cohen Syndrome.
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Suzanne M Leal, Asif Mir

Biomed Res Int· April 2023

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Seed Coat Morphology and Sculpturing of Selected Invasive Alien Plants from Lesser Himalaya Pakistan and Their Systematic Implications.
Farida Anjum, Asif Mir, Yasmeen Shakir, Muhammad Zafar, Shazia Sultana

Biomed Res Int· August 2022

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Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.
Ibrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, Muhammad Naeem, Luc Marchand

BMC Endocr Disord· November 2021

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Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.
Ibrar Rafique, Asif Mir, Shajee Siddiqui, Muhammad Arif Nadeem Saqib, Asher Fawwad

World J Diabetes· November 2021

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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Maha S Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Asif Mir

Eur J Hum Genet· August 2021

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Immunoinformatics and Molecular Docking Studies Predicted Potential Multiepitope-Based Peptide Vaccine and Novel Compounds against Novel SARS-CoV-2 through Virtual Screening.
Muhammad Waqas, Ali Haider, Abdur Rehman, Muhammad Qasim, Ahitsham Umar, Asif Mir

Biomed Res Int· March 2021

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Taimoor I Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Asif Mir

Transl Psychiatry· January 2021

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The genetics of intellectual disability: advancing technology and gene editing.
Muhammad Ilyas, Asif Mir, Stephanie Efthymiou, Henry Houlden

F1000Res· October 2020

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Asif Mir

Mol Genet Genomic Med· September 2020

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Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Talal J Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Asif Mir

BMC Med Genet· August 2020

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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Asif Mir

BMC Med Genet· March 2020

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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Qing Ouyang, Brian C Kavanaugh, Lena Joesch-Cohen, Bethany Dubois, Qing Wu, Asif Mir

Hum Genet· October 2019

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Pharmacoinformatics and molecular docking reveal potential drug candidates against Schizophrenia to target TAAR6.
Rana Adnan Tahir, Hao Wu, Naima Javed, Anila Khalique, Seemab Amjad Fateh Khan, Asif Mir

J Cell Physiol· August 2019

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Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Simeen Ber Rahman, Asif Mir, Nafees Ahmad, Syed Husnain Haider, Salman Akbar Malik

Congenit Anom (Kyoto)· May 2019

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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, Asif Mir

J Biomed Sci· April 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, Asif Mir

J Biomed Sci· November 2018

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Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Muhammad Saad Ahmed, Sana Ikram, Nousheen Bibi, Asif Mir

Mol Neurobiol· May 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

BMC Med Genet· December 2017

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Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir

Diagn Pathol· July 2017

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