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
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
28074849 (PubMed )
Supplement: srep40319-s4.xls › Sheet1
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Inclusion body myositis - pathomechanism and lessons from genetics.
Murnyák B et al.
Open Medicine (warsaw, Poland), 2015
Ongoing developments in sporadic inclusion body myositis.
Machado PM et al.
Current Rheumatology Reports, 2014
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
Gang Q et al.
Orphanet Journal of Rare Diseases, 2014
Novel GNE compound heterozygous mutations in a GNE myopathy patient.
Cai H et al.
Muscle & Nerve, 2013
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