Detalhe da pesquisa
1.
Occupancy maps of 208 chromatin-associated proteins in one human cell type.
Nature
; 583(7818): 720-728, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728244
2.
GTPase splice variants RAC1 and RAC1B display isoform-specific differences in localization, prenylation, and interaction with the chaperone protein SmgGDS.
J Biol Chem
; 299(6): 104698, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059183
3.
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.
BMC Pediatr
; 23(1): 1, 2023 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593444
4.
PEA15 loss of function and defective cerebral development in the domestic cat.
PLoS Genet
; 16(12): e1008671, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290415
5.
An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors.
Genes Dev
; 29(6): 603-16, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762439
6.
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
7.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
8.
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Am J Med Genet A
; 188(2): 556-568, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34726335
9.
SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics.
J Biol Chem
; 295(33): 11742-11753, 2020 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32587094
10.
Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis.
Am J Physiol Lung Cell Mol Physiol
; 320(6): L1147-L1157, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851876
11.
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Hum Genet
; 140(3): 423-439, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32734384
12.
SARS-CoV-2 infection: molecular mechanisms of severe outcomes to suggest therapeutics.
Expert Rev Proteomics
; 18(2): 105-118, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779460
13.
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
Am J Med Genet A
; 185(11): 3485-3493, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477286
14.
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
15.
SARS-CoV-2-Encoded Proteome and Human Genetics: From Interaction-Based to Ribosomal Biology Impact on Disease and Risk Processes.
J Proteome Res
; 19(11): 4275-4290, 2020 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686937
16.
Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.
Physiol Genomics
; 52(6): 255-268, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32437232
17.
Integrated RNA Sequencing Reveals Epigenetic Impacts of Diesel Particulate Matter Exposure in Human Cerebral Organoids.
Dev Neurosci
; 42(5-6): 195-207, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33657557
18.
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
Am J Med Genet A
; 182(5): 1217-1222, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034940
19.
WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease.
J Pediatr Gastroenterol Nutr
; 71(4): e113-e117, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32960541
20.
Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.
Physiol Genomics
; 51(11): 562-577, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31482761