Detalhe da pesquisa
1.
A Pliable Mediator Acts as a Functional Rather Than an Architectural Bridge between Promoters and Enhancers.
Cell
; 178(5): 1145-1158.e20, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402173
2.
The Energetics and Physiological Impact of Cohesin Extrusion.
Cell
; 173(5): 1165-1178.e20, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706548
3.
The Energetics and Physiological Impact of Cohesin Extrusion.
Cell
; 175(1): 292-294, 2018 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30241609
4.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
5.
DOT1L regulates chromatin reorganization and gene expression during sperm differentiation.
EMBO Rep
; 24(6): e56316, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099396
6.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237280
7.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
8.
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Prenat Diagn
; 44(5): 555-561, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448008
9.
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
J Assist Reprod Genet
; 41(1): 135-146, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921973
10.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
11.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
12.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clin Chem Lab Med
; 56(5): 728-738, 2018 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613853
13.
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Am J Med Genet A
; 170(7): 1912-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27119754
14.
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Prenat Diagn
; 36(5): 397-406, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850935
15.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Am J Med Genet A
; 167(6): 1252-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847481
16.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292616
17.
ZP2 heterozygous mutation in an infertile woman.
Hum Genet
; 136(11-12): 1489-1491, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971300
18.
DeltaN TP63 reactivation, epithelial phenotype maintenance, and survival in lung squamous cell carcinoma.
Tumour Biol
; 33(1): 41-51, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21986963
19.
Structure of mammalian Mediator complex reveals Tail module architecture and interaction with a conserved core.
Nat Commun
; 12(1): 1355, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33649303
20.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Ann Endocrinol (Paris)
; 82(6): 555-571, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508691