Detalhe da pesquisa
1.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Am J Hum Genet
; 110(12): 2029-2041, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006881
2.
LINE-1 Activity in Facultative Heterochromatin Formation during X Chromosome Inactivation.
Cell
; 166(3): 782, 2016 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27471971
3.
Using epigenomics to understand cellular responses to environmental influences in diseases.
PLoS Genet
; 19(1): e1010567, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36656803
4.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet
; 32(3): 386-401, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981081
5.
A user's guide to the ambiguous word 'epigenetics'.
Nat Rev Mol Cell Biol
; 19(4): 207-208, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339796
6.
LINE-1 activity in facultative heterochromatin formation during X chromosome inactivation.
Cell
; 141(6): 956-69, 2010 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20550932
7.
Distinct factors control histone variant H3.3 localization at specific genomic regions.
Cell
; 140(5): 678-91, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20211137
8.
Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.
BMC Bioinformatics
; 25(1): 179, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714913
9.
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
Genet Med
; 26(1): 101011, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897232
10.
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.
Qual Life Res
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743313
11.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
12.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
13.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
14.
Preleukemic and leukemic evolution at the stem cell level.
Blood
; 137(8): 1013-1018, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33275656
15.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
16.
Associating cellular epigenetic models with human phenotypes.
Nat Rev Genet
; 18(7): 441-451, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28555657
17.
Umbilical cord blood: an undervalued and underutilized resource in allogeneic hematopoietic stem cell transplant and novel cell therapy applications.
Curr Opin Hematol
; 29(6): 317-326, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066376
18.
Whole-genome bisulfite sequencing with improved accuracy and cost.
Genome Res
; 28(9): 1364-1371, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093547
19.
Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.
Genome Res
; 28(7): 1039-1052, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773658
20.
AptCompare: optimized de novo motif discovery of RNA aptamers via HTS-SELEX.
Bioinformatics
; 36(9): 2905-2906, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999328