Search details
1.
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.
Genet Med
; 23(12): 2300-2308, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34385667
2.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100092
3.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28649782
4.
Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
N Engl J Med
; 371(7): 593-6, 2014 Aug 14.
Article
in English
| MEDLINE | ID: mdl-25119605
5.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Am J Med Genet A
; 173(3): 733-739, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-27888646
6.
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Am J Hum Genet
; 92(5): 781-91, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623387
7.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Am J Hum Genet
; 92(6): 996-1000, 2013 Jun 06.
Article
in English
| MEDLINE | ID: mdl-23731537
8.
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
N Engl J Med
; 368(19): 1809-16, 2013 May 09.
Article
in English
| MEDLINE | ID: mdl-23656646
9.
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Am J Hum Genet
; 90(2): 282-9, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22265014
10.
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Am J Med Genet A
; 167(6): 1309-14, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25846959
11.
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Hum Mol Genet
; 21(22): 4904-9, 2012 Nov 15.
Article
in English
| MEDLINE | ID: mdl-22875837
12.
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Hum Mutat
; 33(11): 1520-5, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22715153
13.
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record.
Front Genet
; 13: 866169, 2022.
Article
in English
| MEDLINE | ID: mdl-35571025
14.
SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads.
Cell Rep Med
; 3(3): 100564, 2022 03 15.
Article
in English
| MEDLINE | ID: mdl-35474739
15.
Evidence for SARS-CoV-2 Delta and Omicron co-infections and recombination.
Med
; 3(12): 848-859.e4, 2022 Dec 09.
Article
in English
| MEDLINE | ID: mdl-36332633
16.
Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations.
Clin Pharmacol Ther
; 110(3): 759-767, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33930192
17.
Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.
Front Genet
; 12: 639418, 2021.
Article
in English
| MEDLINE | ID: mdl-33763119
18.
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
PLoS One
; 16(8): e0255402, 2021.
Article
in English
| MEDLINE | ID: mdl-34379666
19.
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Nat Commun
; 11(1): 542, 2020 Jan 28.
Article
in English
| MEDLINE | ID: mdl-31992710
20.
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Nat Metab
; 2(10): 1126-1134, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33046911