Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161864
4.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
5.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(4): 701-708, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879638
6.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
7.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
8.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500825
9.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat
; 41(5): 921-925, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999386
10.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017373
11.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327001
12.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
13.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269351
14.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
15.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
16.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genet Med
; 20(12): 1635-1643, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790872
17.
RefSeq: an update on mammalian reference sequences.
Nucleic Acids Res
; 42(Database issue): D756-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259432
18.
Current status and new features of the Consensus Coding Sequence database.
Nucleic Acids Res
; 42(Database issue): D865-72, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217909
19.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585854
20.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
bioRxiv
; 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711854