Associated Papers
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M et al.
Orphanet Journal of Rare Diseases, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A et al.
Brain : a Journal of Neurology, 2023
ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.
Christiansen J et al.
Genes & Diseases, 2022
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
Griffin DA et al.
Human Molecular Genetics, 2016
Rhabdomyolysis featuring muscular dystrophies.
Lahoria R et al.
Journal of the Neurological Sciences, 2016
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Integrative data mining highlights candidate genes for monogenic myopathies.
Abath Neto O et al.
Plos One, 2014
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Wahbi K et al.
International Journal of Cardiology, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A et al.
Human Mutation, 2013
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 2012