Detalhe da pesquisa
1.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921087
2.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
3.
Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.
Am J Respir Cell Mol Biol
; 65(2): 157-166, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848452
4.
Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
PLoS Pathog
; 15(2): e1007588, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30742678
5.
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
PLoS Pathog
; 13(11): e1006703, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29108000
6.
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
J Inherit Metab Dis
; 42(5): 993-997, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945312
7.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Am J Hum Genet
; 96(5): 841-9, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957469
8.
Response to Hall et al.
Am J Hum Genet
; 107(6): 1188-1189, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33275912
9.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683120
10.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
11.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet
; 94(5): 734-44, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726473
12.
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Am J Med Genet A
; 173(11): 2906-2911, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856833
13.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
14.
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
Hum Mol Genet
; 23(6): 1602-5, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218363
15.
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Am J Hum Genet
; 92(4): 632-6, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561849
16.
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
Am J Med Genet A
; 170(12): 3165-3171, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480077
17.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Hum Mutat
; 36(11): 1048-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264460
18.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am J Hum Genet
; 90(5): 925-33, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541558
19.
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
Am J Med Genet A
; 167(7): 1483-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755104
20.
Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans.
J Infect Dis
; 209(10): 1623-7, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325963