Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf
Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Okamura K et al.
Pigment Cell & Melanoma Research, 2025
Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.
Alhomayin LA et al.
The American Journal of Case Reports, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH et al.
Journal of Clinical Laboratory Analysis, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.
Stark C et al.
Erj Open Research, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Liu Z et al.
Oncotarget, 2018
29937994 (PubMed )
Supplement: oncotarget-09-27412-s005.xlsx › Supplementary_Table_4
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A et al.
Pigment Cell & Melanoma Research, 2016
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Carmona-Rivera C et al.
The Journal of Investigative Dermatology, 2011
Novel mutations in the HPS1 gene among Puerto Rican patients.
Carmona-Rivera C et al.
Clinical Genetics, 2011
Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA et al.
American Journal of Medical Genetics. Part A, 2009
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