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.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Genome-wide abnormalities in embryos: Origins and clinical consequences.
Prenat Diagn
; 41(5): 554-563, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524193
13.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361080
14.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 101(4): 616-622, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965848
15.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genet Med
; 22(2): 326-335, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474763
16.
LEF1 haploinsufficiency causes ectodermal dysplasia.
Clin Genet
; 97(4): 595-600, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022899
17.
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
Acta Obstet Gynecol Scand
; 99(6): 722-730, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176318
18.
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Nucleic Acids Res
; 46(5): 2159-2168, 2018 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29401301
19.
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells.
Nucleic Acids Res
; 46(16): 8275-8298, 2018 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29947794
20.
Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy.
Genome Res
; 26(5): 567-78, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27197242