Lista de obras - Amy M. Breman - Dominio Público Uruguay

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

artículo científico publicado en 2016

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

artículo científico publicado en 2018

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

scientific article published on 22 October 2019

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

artículo científico publicado en 2019

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

artículo científico publicado en 2020

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

artículo científico publicado en 2017

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

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

artículo científico publicado en 2009

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells

artículo científico publicado en 2016

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

artículo científico publicado en 2016

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

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

artículo científico publicado en 2012

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

artículo científico publicado en 2016

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

scientific article published on 18 November 2016

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

artículo científico publicado en 2017

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

artículo científico publicado en 2015

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

scientific article published on 22 May 2020

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

artículo científico publicado en 2011

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Identifying and genotyping transgene integration loci

scientific article published on 09 July 2008

Input DNA ratio determines copy number of the 33 kb Factor IX gene on de novo human artificial chromosomes

artículo científico publicado en 2007

Interphase FISH demonstrates that human adipose stromal cells maintain a high level of genomic stability in long-term culture

artículo científico publicado en 2009

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

scientific article published on 19 May 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

artículo científico publicado en 2010

MECP2 duplications in six patients with complex sex chromosome rearrangements.

artículo científico publicado en 2011

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

artículo científico publicado en 2019

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

artículo científico publicado en 2018

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

artículo científico publicado en 2010

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

artículo científico publicado en 2011

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

artículo científico publicado en 2017

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

scientific article published on 15 June 2018

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

artículo científico

Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting

artículo científico publicado en 2009

Preparation of chorionic villus samples for metaphase chromosome analysis and chromosomal microarray analysis

scientific article published on 01 October 2012

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia

scientific article published on 19 February 2019

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

scientific article published on 01 April 2019

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

artículo científico publicado en 2008

Regional genomic instability predisposes to complex dystrophin gene rearrangements

artículo científico publicado en 2009

Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing

artículo científico publicado en 2018

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

artículo científico publicado en 2013

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

artículo científico publicado en 2015

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

scientific article published on 27 November 2019

Lista de obras de Amy M. Breman

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

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

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

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

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Identification of novel candidate disease genes from de novo exonic copy number variants.

Identifying and genotyping transgene integration loci

Input DNA ratio determines copy number of the 33 kb Factor IX gene on de novo human artificial chromosomes

Interphase FISH demonstrates that human adipose stromal cells maintain a high level of genomic stability in long-term culture

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

MECP2 duplications in six patients with complex sex chromosome rearrangements

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Mechanisms for Complex Chromosomal Insertions.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

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

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting

Preparation of chorionic villus samples for metaphase chromosome analysis and chromosomal microarray analysis

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

Regional genomic instability predisposes to complex dystrophin gene rearrangements

Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis