Associated Papers
Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.
Wan H et al.
Cell Reports. Medicine, 2025
40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
37292598 (PubMed )
Supplement: media-1.xlsx › Variants
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM1_ESM.pdf
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Hosono K et al.
Plos One, 2012
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM et al.
Investigative Ophthalmology & Visual Science, 2010
EYS is a major gene for rod-cone dystrophies in France.
Audo I et al.
Human Mutation, 2010
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