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1.
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Am J Hum Genet
; 110(1): 92-104, 2023 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36563679
2.
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
Genome Res
; 31(9): 1513-1518, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34301630
3.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35833929
4.
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
J Inherit Metab Dis
; 45(4): 682-695, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35546254
5.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37658852
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