Detalhe da pesquisa
1.
Mutational Processes Shaping the Genome in Early Human Embryos.
Cell
; 168(5): 751-753, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235191
2.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Mol Psychiatry
; 28(5): 2071-2080, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869225
3.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
4.
Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.
Nucleic Acids Res
; 50(11): e63, 2022 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212381
5.
Polygenic embryo screening: quo vadis?
J Assist Reprod Genet
; 2024 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38879662
6.
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
Hum Mol Genet
; 29(21): 3566-3577, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242073
7.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
8.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
9.
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Hum Reprod
; 38(3): 511-519, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625546
10.
What helps define outcomes in persistent uninterpretable non-invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
Prenat Diagn
; 43(10): 1333-1343, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592442
11.
Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity.
Genes Chromosomes Cancer
; 61(10): 603-615, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35611992
12.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481461
13.
A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P.
Genet Med
; 24(6): 1165-1175, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341652
14.
Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets.
Clin Chem
; 68(9): 1164-1176, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769009
15.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
16.
Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.
PLoS Comput Biol
; 17(12): e1009684, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34928946
17.
Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
Am J Hematol
; 97(5): 548-561, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35119131
18.
Prenatal and pre-implantation genetic diagnosis.
Nat Rev Genet
; 17(10): 643-56, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629932
19.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet
; 28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884517
20.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564150