Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
PRL-R Variants Are Not Only Associated With Prolactinomas But Also With Dopamine Agonist Resistance.
de Castro Moreira AR et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Actionable_conditions
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.
Bastidas Torres AN et al.
Genes, Chromosomes & Cancer, 2018
30144205 (PubMed )
Supplement: GCC-57-653-s002.xlsx › 12
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Portaro S et al.
Medicine, 2018
Germline Prolactin Receptor Mutation Is Not a Major Cause of Sporadic Prolactinoma in Humans.
Bernard V et al.
Neuroendocrinology, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
Association of prolactin and its receptor gene regions with familial breast cancer.
Vaclavicek A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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