Detalhe da pesquisa
1.
The genetic architecture of pediatric cardiomyopathy.
Am J Hum Genet
; 109(2): 282-298, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026164
2.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385299
3.
Derivatization of Amino Acids and Peptides via Photoredox-Mediated Conjugate Addition.
J Org Chem
; 85(9): 6225-6232, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268730
4.
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
Hum Mutat
; 39(12): 2083-2096, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260051
5.
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Am J Med Genet A
; 170A(5): 1288-94, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854089
6.
Synthesis and optimization of N-heterocyclic pyridinones as catechol-O-methyltransferase (COMT) inhibitors.
Bioorg Med Chem Lett
; 26(12): 2952-2956, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133481
7.
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
J Mol Diagn
; 26(3): 191-201, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103590
8.
Best Practice for Clinical Somatic Variant Interpretation and Reporting.
Clin Lab Med
; 42(3): 423-434, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150821
9.
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Acta Neuropathol Commun
; 10(1): 102, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35836290
10.
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.
Cold Spring Harb Mol Case Stud
; 8(3)2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232817
11.
Application of Next Generation Sequencing in Laboratory Medicine.
Ann Lab Med
; 41(1): 25-43, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829577
12.
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
J Am Heart Assoc
; 10(9): e017731, 2021 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906374
13.
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Cold Spring Harb Mol Case Stud
; 6(4)2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554798
14.
Discovery of [11C]MK-6884: A Positron Emission Tomography (PET) Imaging Agent for the Study of M4Muscarinic Receptor Positive Allosteric Modulators (PAMs) in Neurodegenerative Diseases.
J Med Chem
; 63(5): 2411-2425, 2020 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101422
15.
Limited-View X-Ray Tomography Combining Attenuation and Compton Scatter Data: Approach and Experimental Results.
IEEE Access
; 7: 165734-165747, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-38162339
16.
Discovery, Optimization, and Biological Characterization of 2,3,6-Trisubstituted Pyridine-Containing M4 Positive Allosteric Modulators.
ChemMedChem
; 14(9): 943-951, 2019 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30920765
17.
Evidence for beta-chlorocarbenium and beta-bromocarbenium ions.
Org Lett
; 9(12): 2317-20, 2007 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-17488035
18.
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
J Cardiovasc Transl Res
; 10(4): 423-432, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550590
19.
Synthesis and Evaluation of Heterocyclic Catechol Mimics as Inhibitors of Catechol-O-methyltransferase (COMT).
ACS Med Chem Lett
; 6(3): 318-23, 2015 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25815153
20.
Characterization of non-nitrocatechol pan and isoform specific catechol-O-methyltransferase inhibitors and substrates.
ACS Chem Neurosci
; 3(2): 129-40, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22860182