Publications by authors named "Muhammad Ansar"

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Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D Allen, Ehsan Ullah, Muhammad Ansar

JAMA Ophthalmol· December 2025

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A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.
Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Muhammad Ansar

Hum Genome Var· November 2025

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Acute Thrombocytopaenia Induced by Teicoplanin in a Patient With Right Leg Cellulitis.
Muhammad Ansar, Daneer S Rahanu, Nyein Su Wai, Wutyee Phoo, Md Nahid Hasan

Cureus· October 2025

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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Rhys Dore, Chu-Ting Chang, Amber Declève, Gloria Brunori, W Grant Ludlam, Muhammad Ansar, Muhammad Ansar

Genet Med· September 2025

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, Kwanghyuk Lee, Artur A Indzhykulian, Muhammad Ansar

Nat Genet· September 2025

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Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.
Afeefa Jarral, Rabia Basharat, Sundus Sajid, Kinza Arshad, Imran Ali, Muhammad Ansar

Mol Genet Genomic Med· September 2025

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Construction of 2D/2D α-FeO/g-CN Z-scheme photocatalysts with SnO as an energy platform for directed charge transfer in cascade heterojunction: Photocatalytic CO reduction and pollutant degradation.
Wisal Muhammad, Nazma Faqir, Muhammad Asif Khan, Zaheen Ullah Khan, Bilal Ahmad, Muhammad Zaka Ansar

J Colloid Interface Sci· August 2025

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Risk Factors for the Development of Early Onset Diabetes in the Population of Sindh Province, Pakistan.
Eraj Abbas, Asher Fawwad, Iftikhar Ahmed Siddiqui, Muhammad Sohail Afzal, Muhammad Ansar

Biomedicines· May 2025

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Muhammad Ansar

Am J Hum Genet· April 2025

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A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Muhammad Ansar

NPJ Genom Med· April 2025

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Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani, Nazia Ibrahim, Muhammad Ansar

Genome Med· April 2025

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A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.
Tayyaba Saeed, Nousheen Bibi, Ashfaq Ahmad, Saadullah Khan, Muhammad Ansar

Mol Genet Genomic Med· March 2025

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Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Ainee Zafar, Ruqia Mehmood Baig, Abida Arshad, Abdur Rashid, Sergey Oreshkov, Muhammad Ansar

Int J Mol Sci· March 2025

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A novel homozygous missense variant in causes cone dystrophy in a consanguineous Pakistani family.
Asad Munir, Inam Ullah Khan, Abdur Rashid, Ijaz Anwar, Sabawoon Shah, Muhammad Ansar

Ophthalmic Genet· February 2025

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Long-term impact of different prevalent cropping systems on soil physico-chemical characteristics under subtropical climate conditions of Punjab, Pakistan.
Fahad Ali Fayyaz, Irfan Aziz, Muhammad Ansar, Muhammad Akmal, Saud Alamri

Sci Rep· January 2025

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Ultrasound shear wave elastography of the placenta: a potential tool for early detection of fetal growth restriction.
Muhammad Ansar, Muhammad Arsam Ali, Noraiz Ali, Zeshan Haider, Aruj Latif

Clin Imaging· December 2024

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Recurrent Gastrointestinal Symptoms and Diagnosis of Superior Mesenteric Artery Syndrome.
Muhammad Ansar, Maham Shahbaz, Abdul Nabi Saleemi, Bruce Fox

Cureus· November 2024

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Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Muhammad Ansar

medRxiv· October 2024

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Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Fati Ullah Khan, Hammal Khan, Kifayat Ullah, Shoaib Nawaz, Abdullah, Muhammad Ansar

Clin Genet· September 2024

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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Muhammad Ansar

Am J Hum Genet· September 2024

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Efficient energy and memory storage capabilities in optimized BiFeO/MnMoO/NiFeO triphasic composites for futuristic multistate devices.
Izhar Sagheer, Muhammad Tamoor Ansar, Shahid M Ramay, Houbing Huang, Shahid Atiq

RSC Adv· September 2024

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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq Ur Rehman, Muhammad Ansar

BMC Genomics· August 2024

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The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Muhammad Ansar

Front Med (Lausanne)· August 2024

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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Rabia Basharat, Suzanne E de Bruijn, Muhammad Zahid, Kim Rodenburg, Rebekkah J Hitti-Malin, Muhammad Ansar

Exp Eye Res· July 2024

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Exploring the pathological mechanisms underlying Cohen syndrome.
Fabrizio Vacca, Binnaz Yalcin, Muhammad Ansar

Front Neurosci· July 2024

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