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1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35917817
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
3.
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Blood Cells Mol Dis
; 92: 102596, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34547651
4.
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Blood Cells Mol Dis
; 90: 102587, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34175765
5.
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
Am J Hum Genet
; 80(2): 273-90, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17236132
6.
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
Am J Hum Genet
; 77(4): 567-81, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16175503
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