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1.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Hum Mol Genet
; 30(14): 1283-1292, 2021 06 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33864376
2.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genet Med
; 25(6): 100833, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37013900
3.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Mol Genet Metab
; 140(3): 107680, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37567036
4.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29478781
5.
A Pak-regulated cell intercalation event leading to a novel radial cell polarity is involved in positioning of the follicle stem cell niche in the Drosophila ovary.
Development
; 142(1): 82-91, 2015 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25516970
6.
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
medRxiv
; 2023 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36778246
7.
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Genetics
; 224(4)2023 08 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37314226
8.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35294868
9.
A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease.
G3 (Bethesda)
; 10(1): 69-77, 2020 01 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31767637
10.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Nat Commun
; 10(1): 4679, 2019 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31616000
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