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.
Two Phase 3 Trials of Gantenerumab in Early Alzheimer's Disease.
N Engl J Med
; 389(20): 1862-1876, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37966285
3.
Development of a quantitative semi-mechanistic model of Alzheimer's disease based on the amyloid/tau/neurodegeneration framework (the Q-ATN model).
Alzheimers Dement
; 19(6): 2287-2297, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454709
4.
Cantharidin and Its Analogue Norcantharidin Inhibit Metastasis-Inducing Genes S100A4 and MACC1.
Int J Mol Sci
; 24(2)2023 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674695
5.
Gantenerumab in Early Alzheimer's Disease. Reply.
N Engl J Med
; 390(9): 867, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38416440
6.
Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants.
Cytogenet Genome Res
; 162(11-12): 599-608, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231787
7.
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
8.
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Am J Med Genet C Semin Med Genet
; 184(4): 1030-1041, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274544
9.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
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.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576985
12.
Statin and rottlerin small-molecule inhibitors restrict colon cancer progression and metastasis via MACC1.
PLoS Biol
; 15(6): e2000784, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28570591
13.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
14.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158690
15.
Mechanisms for Complex Chromosomal Insertions.
PLoS Genet
; 12(11): e1006446, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27880765
16.
Genetic diagnosis of Down syndrome in an underserved community.
Am J Med Genet A
; 176(2): 483-486, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278455
17.
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
Prenat Diagn
; 38(11): 858-865, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094853
18.
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
19.
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Am J Med Genet A
; 173(9): 2478-2484, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28691782
20.
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Am J Obstet Gynecol
; 217(6): 691.e1-691.e6, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032050