Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
3.
Complement-mediated thrombotic microangiopathy treated with anticomplement protein 5 therapy, a retrospective study.
Eur J Haematol
; 112(3): 450-457, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984551
4.
Expanding the access to kidney transplantation: Strategies for kidney transplant programs.
Clin Transplant
; 38(5): e15315, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38686443
5.
Can we lower the platelet threshold of ≥ 50 × 109/L for performing a lumbar puncture safely in patients with hematological malignancies?
Ann Hematol
; 102(3): 663-668, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534146
6.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365382
7.
Outcomes of de novo belatacept-based immunosuppression regimen and avoidance of calcineurin inhibitors in recipients of kidney allografts at higher risk for underutilization.
Nephrology (Carlton)
; 27(11): 901-905, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047901
8.
Kidney allograft biopsy findings after COVID-19.
Am J Transplant
; 21(12): 4032-4042, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34403563
9.
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Genomics
; 112(5): 2937-2941, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387503
10.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
11.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
12.
Association of HLA Typing and Alloimmunity With Posttransplantation Membranous Nephropathy: A Multicenter Case Series.
Am J Kidney Dis
; 76(3): 374-383, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359820
13.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
14.
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
Nature
; 503(7474): 72-7, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24153177
15.
Mechanisms for Complex Chromosomal Insertions.
PLoS Genet
; 12(11): e1006446, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27880765
16.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438
17.
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Hum Mutat
; 38(6): 669-677, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28247551
18.
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Hum Mol Genet
; 24(14): 4061-77, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908615
19.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251352
20.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087610