Detalhe da pesquisa
1.
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074918
2.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
3.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; 194(7): e63559, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
4.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
5.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Am J Hum Genet
; 106(5): 632-645, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330418
6.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
7.
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
8.
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
9.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
10.
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
11.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Genet Med
; 23(2): 280-288, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989269
12.
A state-based approach to genomics for rare disease and population screening.
Genet Med
; 23(4): 777-781, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244164
13.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
14.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645220
15.
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PLoS Genet
; 13(8): e1006957, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859103
16.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
17.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
18.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
19.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
20.
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