Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.
Zhao B et al.
American Journal of Human Genetics, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.
Rawat A et al.
Scientific Reports, 2022
Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.
Ji K et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020
Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
Li J et al.
Cancer Research, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1
Discovering moderate-risk breast cancer susceptibility genes.
Hollestelle A et al.
Current Opinion in Genetics & Development, 2010
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L et al.
Annals of Human Genetics, 2009
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Cavalieri S et al.
Annals of Human Genetics, 2008
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Cavalieri S et al.
Human Mutation, 2006
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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