Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf
Identification of a novel MYH9-related disease-associated mutation with multiple faintly staining Döhle-like bodies.
Yin C et al.
Pediatric Blood & Cancer, 2024
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Casas-Mao D et al.
The Journal of Biological Chemistry, 2024
38042490 (PubMed )
Supplement: mmc1.docx
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P et al.
Transfusion, 2020
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Yang EJ et al.
Journal of Pediatric Hematology/oncology, 2020
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
28748566 (PubMed )
Supplement: BJH-179-308-s001.docx
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S7
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
Chatterjee R et al.
Plos One, 2013
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012
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