Detalhe da pesquisa
1.
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
N Engl J Med
; 384(10): 924-935, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704937
2.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genet Med
; 25(3): 100348, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571464
3.
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Am J Med Genet A
; 191(6): 1518-1524, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36924216
4.
Clinical whole-genome sequencing in cancer diagnosis.
Hum Mutat
; 43(11): 1519-1530, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471774
5.
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
Am J Hum Genet
; 105(4): 734-746, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585106
6.
Assessing COVID-19 testing strategies in K-12 schools in underserved populations: study protocol for a cluster-randomized trial.
BMC Public Health
; 22(1): 1177, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698094
7.
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Mo Med
; 119(4): 390-396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36118815
8.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
9.
Pilot Investigation of SARS-CoV-2 Secondary Transmission in Kindergarten Through Grade 12 Schools Implementing Mitigation Strategies - St. Louis County and City of Springfield, Missouri, December 2020.
MMWR Morb Mortal Wkly Rep
; 70(12): 449-455, 2021 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764961
10.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
11.
Correction: Assessing COVID-19 testing strategies in K-12 schools in underserved populations: study protocol for a cluster-randomized trial.
BMC Public Health
; 22(1): 1655, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050666
12.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
13.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041762
14.
Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia: A case report.
Cancer Genet
; 280-281: 1-5, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056049
15.
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Eur J Hum Genet
; 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278869
16.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Mol Genet Metab
; 110(4): 477-83, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103308
17.
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Genes (Basel)
; 14(3)2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36981008
18.
High Coverage Highly Accurate Long-Read Sequencing of a Mouse Neuronal Cell Line Using the PacBio Revio Sequencer.
bioRxiv
; 2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37333171
19.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab
; 106(1): 55-61, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424739
20.
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Mol Genet Metab
; 106(4): 439-41, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658692