Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Probabilistic association of differentially expressed genes with cis-regulatory elements.
Genome Res
; 34(4): 620-632, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631728
3.
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
4.
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands.
Genome Res
; 31(5): 866-876, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879525
5.
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
PLoS Genet
; 17(1): e1009195, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411788
6.
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
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.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
10.
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
11.
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
12.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526861
13.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Am J Hum Genet
; 103(3): 319-327, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193136
14.
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
15.
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
16.
Distinct properties of cell-type-specific and shared transcription factor binding sites.
Mol Cell
; 52(1): 25-36, 2013 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24076218
17.
CADD: predicting the deleteriousness of variants throughout the human genome.
Nucleic Acids Res
; 47(D1): D886-D894, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371827
18.
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
19.
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
20.
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