Publications by authors named "Todor Arsov"

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Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
Jianyang Ma, Yuting Qin, Soon-Min Hong, Thuvaraka Ware, Guojun Hou, Todor Arsov

Arthritis Rheumatol· November 2025

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Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study.
Devashree Balasingam, Rosalind Moxham, Sophie Devery, Renee Smyth, Todor Arsov

Diabetes Res Clin Pract· November 2025

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Alka Malhotra, Erin Thorpe, Alison J Coffey, Revathi Rajkumar, Josephine Adjeman, Todor Arsov

HGG Adv· July 2025

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Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.
Mario Sestan, Todor Arsov, Nastasia Kifer, Marijan Frkovic, Danica Grguric

Scand J Immunol· December 2024

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A Novel Pathogenic Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.
Akzam Saidin, Anet Papazovska Cherepnalkovski, Zeeshan Shaukat, Todor Arsov, Rashid Hussain

Genes (Basel)· August 2024

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Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.
Nikola Gjorgjievski, Vlatko Karanfilovski, Todor Arsov, Pavlina Dzekova Vidimliski, Galisna Severeova Andreevska

Front Genet· August 2024

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Ataxia telangiectasia and juvenile idiopathic arthritis: A coincidence or a relationship?
Todor Arsov, Mario Sestan, Nastasia Kifer, Alenka Gagro, Matthew Cook

Pediatr Allergy Immunol· September 2023

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The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.
Mario Sestan, Nastasia Kifer, Todor Arsov, Matthew Cook, Julia Ellyard

Curr Issues Mol Biol· July 2023

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De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Chengmei Xie, Haibo Zhou, Vicki Athanasopoulos, Qian Shen, Yaoyuan Zhang, Todor Arsov

Arthritis Rheumatol· June 2023

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A single dose of BNT162b2 vaccine elicits strong humoral response in SARS-CoV-2 seropositive individuals.
Teodora Brnjarchevska Blazhevska, Haris Babačić, Olgica Sibinovska, Boban Dobrevski, Meri Kirijas, Todor Arsov

Allergy· January 2022

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P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance.
Yuke He, Antonia E Gallman, Chengmei Xie, Qian Shen, Jianyang Ma, Todor Arsov

J Exp Med· January 2022

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Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
Todor Arsov, Jadranka Kelecic, Sanda Huljev Frkovic, Mario Sestan, Nastasia Kifer

Eur J Med Genet· December 2021

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Infanticide vs. inherited cardiac arrhythmias.
Malene Brohus, Todor Arsov, David A Wallace, Helene Halkjær Jensen, Mette Nyegaard

Europace· March 2021

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Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones.
Todor Arsov, Chengmei Xie, Nan Shen, Dan Andrews, Carola G Vinuesa

Thyroid Res· July 2019

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Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
Todor Arsov, Mario Sestan, Nastasia Cekada, Marijan Frkovic, Dan Andrews

Eur J Med Genet· June 2019

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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Simon H Jiang, Vicki Athanasopoulos, Julia I Ellyard, Aaron Chuah, Jean Cappello, Todor Arsov

Nat Commun· May 2019

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SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov

Epilepsy Res· March 2017

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Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.
John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov

Epilepsy Res· November 2015

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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov

Hum Mol Genet· August 2015

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Strain dependence of diet-induced NASH and liver fibrosis in obese mice is linked to diabetes and inflammatory phenotype.
Geoffrey C Farrell, Auvro R Mridha, Matthew M Yeh, Todor Arsov, Derrick M Van Rooyen

Liver Int· August 2014

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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh

Epilepsia· December 2012

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Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Todor Arsov, Saul A Mullen, Sue Rogers, A Marie Phillips, Kate M Lawrence

Ann Neurol· November 2012

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Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Daniel Carranza Rojo, A Simon Harvey, Xenia Iona, Leanne M Dibbens, John A Damiano, Todor Arsov

Epilepsy Res· June 2012

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Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows, Todor Arsov

Arch Neurol· April 2012

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Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Geetha Anand, Anuruddha Padeniya, Donncha Hanrahan, Hans Scheffer, Zenobia Zaiwalla, Todor Arsov

Dev Med Child Neurol· July 2011

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