Detalhe da pesquisa
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
2.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
3.
Analysis of CACTA transposase genes unveils the mechanism of intron loss and distinct small RNA silencing pathways underlying divergent evolution of Brassica genomes.
Plant J
; 105(1): 34-48, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098166
4.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
5.
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Cytogenet Genome Res
; 162(5): 237-243, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516793
6.
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
Am J Med Genet A
; 176(1): 241-245, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130632
7.
Highly distinct chromosomal structures in cowpea (Vigna unguiculata), as revealed by molecular cytogenetic analysis.
Chromosome Res
; 24(2): 197-216, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758200
8.
A Comparative Epigenomic Analysis of Polyploidy-Derived Genes in Soybean and Common Bean.
Plant Physiol
; 168(4): 1433-47, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26149573
9.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297832
10.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808847
11.
A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect.
Clin Case Rep
; 10(11): e6535, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36415709
12.
Epigenetic, genetic and maternal effects enable stable centromere inheritance.
Nat Cell Biol
; 24(5): 748-756, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534577
13.
A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.
Clin Case Rep
; 9(5): e04141, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026173
14.
Tracheal Aspirate as an Alternative Biologic Sample for Pharmacogenomics Testing in Mechanically Ventilated Pediatric Patients.
Clin Transl Sci
; 14(2): 497-501, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702149
15.
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
J Mol Diagn
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197628
16.
Expanded Satellite Repeats Amplify a Discrete CENP-A Nucleosome Assembly Site on Chromosomes that Drive in Female Meiosis.
Curr Biol
; 27(15): 2365-2373.e8, 2017 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28756949
17.
Fluorescence In Situ Hybridization (FISH)-Based Karyotyping Reveals Rapid Evolution of Centromeric and Subtelomeric Repeats in Common Bean (Phaseolus vulgaris) and Relatives.
G3 (Bethesda)
; 6(4): 1013-22, 2016 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865698
18.
Dynamics of a Novel Highly Repetitive CACTA Family in Common Bean (Phaseolus vulgaris).
G3 (Bethesda)
; 6(7): 2091-101, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185400