Detalhe da pesquisa
1.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Am J Med Genet A
; : e63646, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702915
2.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245260
3.
Presymptomatic SARS-CoV-2 Infections and Transmission in a Skilled Nursing Facility.
N Engl J Med
; 382(22): 2081-2090, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329971
4.
COL4A gene variants are common in children with hematuria and a family history of kidney disease.
Pediatr Nephrol
; 38(11): 3625-3633, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204491
5.
Systematic Review of In Vitro Antimicrobial Susceptibility Testing for Bacillus anthracis, 1947-2019.
Clin Infect Dis
; 75(Suppl 3): S373-S378, 2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251548
6.
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Am J Hum Genet
; 105(1): 177-188, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256874
7.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
8.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
9.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
10.
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Am J Hum Genet
; 102(6): 1104-1114, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861107
11.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343942
12.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
13.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
14.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Am J Med Genet A
; 185(10): 2863-2872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050707
15.
COVID-19 Response Efforts of Washington State Public Health Laboratory: Lessons Learned.
Am J Public Health
; 111(5): 867-875, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734847
16.
Rapid Nanopore Whole-Genome Sequencing for Anthrax Emergency Preparedness.
Emerg Infect Dis
; 26(2): 358-361, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961318
17.
Optical microscopy reveals the dynamic nature of B. pseudomallei morphology during ß-lactam antimicrobial susceptibility testing.
BMC Microbiol
; 20(1): 209, 2020 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677888
18.
COVID-19 Contact Tracing in Two Counties - North Carolina, June-July 2020.
MMWR Morb Mortal Wkly Rep
; 69(38): 1360-1363, 2020 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970654
19.
Asymptomatic and Presymptomatic SARS-CoV-2 Infections in Residents of a Long-Term Care Skilled Nursing Facility - King County, Washington, March 2020.
MMWR Morb Mortal Wkly Rep
; 69(13): 377-381, 2020 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240128
20.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232