Lista de obras -

A miR-199a/miR-214 self-regulatory network via PSMD10, TP53 and DNMT1 in testicular germ cell tumor.

artículo científico publicado en 2014

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

artículo científico publicado en 2015

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

scientific article published on 05 September 2018

Comparison of multi-lineage differentiation of hiPSCs reveals novel miRNAs that regulate lineage specification.

artículo científico publicado en 2018

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

artículo científico publicado en 2017

Flexible and versatile as a chameleon-sophisticated functions of microRNA-199a

artículo científico publicado en 2012

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

artículo científico publicado en 2015

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

artículo científico publicado en 2016

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

artículo científico publicado en 2018

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

artículo científico publicado en 2015

Molecular mechanisms of regulation and action of microRNA-199a in testicular germ cell tumor and glioblastomas

artículo científico publicado en 2013

Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway.

artículo científico publicado en 2015

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

artículo científico publicado en 2016

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

scientific article published on 15 June 2018

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

scientific article published on 25 November 2019

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

artículo científico publicado en 2016

[Recommendation for standardized certification of the directors of genetic diagnostics laboratories]

artículo científico publicado en 2019

[Standards and regulations for reporting clinical genetic testing results in the United States]

scientific article published on 01 January 2019

microRNA-199a-3p, DNMT3A, and aberrant DNA methylation in testicular cancer.

artículo científico publicado en 2013

Lista de obras de

A miR-199a/miR-214 self-regulatory network via PSMD10, TP53 and DNMT1 in testicular germ cell tumor.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

Comparison of multi-lineage differentiation of hiPSCs reveals novel miRNAs that regulate lineage specification.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Flexible and versatile as a chameleon-sophisticated functions of microRNA-199a

Genetic architecture of laterality defects revealed by whole exome sequencing

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Mechanisms for Complex Chromosomal Insertions.

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Molecular mechanisms of regulation and action of microRNA-199a in testicular germ cell tumor and glioblastomas

Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

[Recommendation for standardized certification of the directors of genetic diagnostics laboratories]

[Standards and regulations for reporting clinical genetic testing results in the United States]

microRNA-199a-3p, DNMT3A, and aberrant DNA methylation in testicular cancer.