Detalhe da pesquisa
1.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
2.
Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.
Am J Med Genet A
; 188(6): 1808-1814, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253988
3.
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Am J Med Genet A
; 188(2): 463-472, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655156
4.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
5.
Association of novel rare coding variants with juvenile idiopathic arthritis.
Ann Rheum Dis
; 80(5): 626-631, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408077
6.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Hum Mol Genet
; 27(18): 3233-3245, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905864
7.
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics
; 9: 31, 2015 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26561035
8.
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord
; 17(1): 462, 2016 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829420
9.
Novel locus for atopic dermatitis in African Americans and replication in European Americans.
J Allergy Clin Immunol
; 143(3): 1229-1231, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414857
10.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962958
11.
ß2 integrin induces TCRζ-Syk-phospholipase C-γ phosphorylation and paxillin-dependent granule polarization in human NK cells.
J Immunol
; 186(5): 2998-3005, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21270398
12.
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
J Neurodev Disord
; 15(1): 14, 2023 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120522
13.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
JCI Insight
; 8(9)2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154160
14.
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Nat Med
; 29(6): 1530-1539, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264205
15.
Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics
; 10: 5, 2016 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782110
16.
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.
Arthritis Rheumatol
; 74(8): 1420-1429, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347896
17.
Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells.
J Exp Med
; 202(7): 1001-12, 2005 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-16203869
18.
The Role of Autophagy in Skeletal Muscle Diseases.
Front Physiol
; 12: 638983, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33841177
19.
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.
Front Genet
; 12: 756645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621299
20.
Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection.
Front Cell Dev Biol
; 9: 690882, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34458256