Detalhe da pesquisa
1.
Reactive Neutrophil Responses Dependent on the Receptor Tyrosine Kinase c-MET Limit Cancer Immunotherapy.
Immunity
; 47(4): 789-802.e9, 2017 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29045907
2.
TMPRSS2 isoform 1 downregulation by G-quadruplex stabilization induces SARS-CoV-2 replication arrest.
BMC Biol
; 22(1): 5, 2024 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38185627
3.
Predicting the pathogenicity of missense variants using features derived from AlphaFold2.
Bioinformatics
; 39(5)2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37084271
4.
Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development.
Development
; 147(21)2020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467233
5.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet
; 141(1): 147-173, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889978
6.
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.
Mol Psychiatry
; 26(7): 3004-3017, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057169
7.
Systematic assays and resources for the functional annotation of non-coding variants.
Med Genet
; 34(4): 275-286, 2022 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034418
8.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Hum Mutat
; 42(8): 1066-1078, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004033
9.
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
Genet Epidemiol
; 44(8): 924-933, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710482
10.
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
PLoS Genet
; 14(8): e1007501, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30067744
11.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
12.
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
Hum Mol Genet
; 26(4): 829-842, 2017 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087736
13.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am J Hum Genet
; 98(4): 755-62, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018475
14.
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.
PLoS Genet
; 12(3): e1005914, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968009
15.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS Genet
; 11(3): e1005024, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25763902
16.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
17.
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Am J Med Genet A
; 188(5): 1607-1611, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994518
18.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Genet Med
; 18(11): 1158-1162, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26963285
19.
Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population.
Birth Defects Res A Clin Mol Teratol
; 106(2): 81-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26648166
20.
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Birth Defects Res A Clin Mol Teratol
; 106(9): 767-72, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384521