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1.
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Proc Natl Acad Sci U S A
; 116(9): 3662-3667, 2019 02 26.
Article
in English
| MEDLINE | ID: mdl-30808755
2.
The genetics of autism spectrum disorder in an East African familial cohort.
Cell Genom
; 3(7): 100322, 2023 Jul 12.
Article
in English
| MEDLINE | ID: mdl-37492102
3.
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ Genom Med
; 7(1): 13, 2022 Feb 21.
Article
in English
| MEDLINE | ID: mdl-35190550
4.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
Elife
; 92020 12 22.
Article
in English
| MEDLINE | ID: mdl-33350388
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