Associated Papers
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Zamora-Cánovas A et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q et al.
Genes, 2023
36672886 (PubMed )
Supplement: genes-14-00145-s001.zip › genes-2104317-supplementary.pdf
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
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM et al.
Annals of Medicine, 2019
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM et al.
Haematologica, 2018
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Stanescu H et al.
Annals of Human Genetics, 2009
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