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.
Genetic architecture of asthma in African American patients.
J Allergy Clin Immunol
; 151(4): 1132-1136, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36089080
3.
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.
J Hepatol
; 79(6): 1385-1395, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572794
4.
Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Pediatr Res
; 94(6): 1911-1915, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246606
5.
A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci.
J Allergy Clin Immunol
; 149(3): 988-998, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34506852
6.
Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap.
Rheumatology (Oxford)
; 61(8): 3497-3501, 2022 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35171267
7.
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
8.
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
9.
Improved genetic risk scoring algorithm for type 1 diabetes prediction.
Pediatr Diabetes
; 23(3): 320-323, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997821
10.
Unsupervised modeling and genome-wide association identify novel features of allergic march trajectories.
J Allergy Clin Immunol
; 147(2): 677-685.e10, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32650023
11.
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
12.
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
13.
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
14.
A Standardized Protocol for Cervical Spine Evaluation in Children Reduces Imaging Utilization: A Pilot Study of the Pediatric Cervical Spine Clearance Working Group Protocol.
J Pediatr Orthop
; 40(8): e780-e784, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32604349
15.
Common variants at 5q33.1 predispose to migraine in African-American children.
J Med Genet
; 55(12): 831-836, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30266756
16.
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).
J Pediatr
; 194: 248-252.e2, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269196
17.
Insights Image for "Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition".
Pediatr Res
; 94(6): 2117, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37550488
18.
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
Hum Mutat
; 38(5): 507-510, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150392
19.
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
20.
Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.
Diabetes Obes Metab
; 23(8): 2001-2003, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950547