Detalhe da pesquisa
1.
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Am J Hum Genet
; 107(2): 251-264, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32640185
2.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29727688
3.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29562163
4.
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.
Nucleic Acids Res
; 45(18): 10393-10402, 2017 Oct 13.
Artigo
Inglês
| MEDLINE | ID: mdl-28977528
5.
Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus.
Nucleic Acids Res
; 44(7): 3082-94, 2016 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-26673704
6.
Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus.
Nucleic Acids Res
; 42(15): 9612-22, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25081205
7.
FOXA2 regulates a network of genes involved in critical functions of human intestinal epithelial cells.
Physiol Genomics
; 47(7): 290-7, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25921584
8.
Coordinate regulation of the gel-forming mucin genes at chromosome 11p15.5.
J Biol Chem
; 288(9): 6717-25, 2013 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23303185
9.
A genome-wide analysis of open chromatin in human epididymis epithelial cells reveals candidate regulatory elements for genes coordinating epididymal function.
Biol Reprod
; 89(4): 104, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24006278
10.
A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function.
Thorax
; 67(5): 385-91, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22169360
11.
MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene.
Biochem J
; 438(1): 25-32, 2011 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21689072
12.
Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences.
Hum Immunol
; 82(6): 385-403, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33875299
13.
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Sci Rep
; 11(1): 5595, 2021 03 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33692434
14.
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.
Obesity (Silver Spring)
; 29(4): 748-754, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33616283
15.
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Circ Genom Precis Med
; 13(6): e003133, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33141630
16.
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32818236
17.
Next generation sequencing and the classical HLA loci in full heritage Pima Indians of Arizona: Defining the core HLA variation for North American Paleo-Indians.
Hum Immunol
; 80(12): 955-965, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31706744
18.
Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche.
Elife
; 82019 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30735122
19.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
; 354(6319)2016 Dec 23.
Artigo
Inglês
| MEDLINE | ID: mdl-28008009
20.
Chromatin Dynamics in the Regulation of CFTR Expression.
Genes (Basel)
; 6(3): 543-58, 2015 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-26184320