Lista de obras - Christa Lese Martin - Dominio Público Uruguay

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

artículo científico publicado en 2007

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

artículo científico publicado en 2012

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

artículo científico publicado en 2016

A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds

artículo científico publicado en 2013

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

artículo científico publicado en 2014

A locus for bilateral perisylvian polymicrogyria maps to Xq28

artículo científico publicado en 2002

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

artículo científico publicado en 2010

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

scientific article published on 06 June 2013

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

artículo científico publicado el 1 de septiembre de 2011

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

artículo científico publicado en 2016

Autism and cytogenetic abnormalities: solving autism one chromosome at a time

artículo científico publicado en 2007

Behavioral characterization of a white-throated sparrow homozygous for the ZAL2(m) chromosomal rearrangement

artículo científico publicado en 2012

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

artículo científico publicado en 2017

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

artículo científico publicado en 2010

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

artículo científico publicado en 2017

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature

artículo científico publicado en 2007

Chromosomal microarray versus karyotyping for prenatal diagnosis

artículo científico publicado en 2012

ClinGen--the Clinical Genome Resource

artículo científico publicado en 2015

ClinVar Is a Critical Resource to Advance Variant Interpretation

artículo científico publicado en 2017

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

artículo científico publicado en 2002

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

artículo científico publicado en 2009

Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion

scholarly article by Angela Sagar et al published April 2013 in American Journal of Medical Genetics

Common genetic variants, acting additively, are a major source of risk for autism

artículo científico publicado en 2012

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

artículo científico publicado en 2004

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

artículo científico publicado en 2010

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

artículo científico publicado en 2008

Copy number variants, aneuploidies, and human disease

artículo científico publicado en 2015

Cryptic telomere imbalance: a 15-year update

artículo científico publicado en 2007

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

artículo científico publicado en 2007

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

artículo científico publicado el 4 de noviembre de 2010

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

artículo científico publicado en 2008

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing

artículo científico publicado en 2005

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

artículo científico

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

artículo científico publicado en 2018

Development of a consent resource for genomic data sharing in the clinical setting

artículo científico publicado en 2018

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

Diverse fates of paralogs following segmental duplication of telomeric genes

artículo científico publicado en 2004

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements ⬇️

artículo científico publicado el 4 de julio de 2011

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

artículo científico publicado en 2017

Evolution of a bitter taste receptor gene cluster in a New World sparrow

artículo científico publicado en 2010

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

artículo científico publicado en 2010

Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies

artículo científico publicado en 2012

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

artículo científico publicado en 2007

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

artículo científico publicado en 2015

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

artículo científico publicado en 2014

Genotype/phenotype correlations in two patients with 12q subtelomere deletions

artículo científico publicado en 2007

Haplotype-Based Genomic Sequencing of a Chromosomal Polymorphism in the White-Throated Sparrow (Zonotrichia albicollis) ⬇️

artículo científico publicado el 25 de mayo de 2011

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

artículo científico publicado en 2017

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

artículo científico publicado en 2015

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

scientific article published on 31 August 2016

Large inverted duplications in the human genome form via a fold-back mechanism

artículo científico publicado en 2014

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

artículo científico publicado en 2008

Loss of δ-catenin function in severe autism

artículo científico publicado en 2015

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

artículo científico publicado en 2008

Molecular cytogenetic analysis of telomere rearrangements

artículo científico publicado en 2015

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

artículo científico publicado en 2008

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

artículo científico publicado en 2018

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomi

artículo científico publicado en 2018

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions

artículo científico publicado en 2016

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

artículo científico publicado en 2016

Rare copy number variation in cerebral palsy

scientific article published on 22 May 2013

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

artículo científico publicado en 2003

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

artículo científico publicado en 2003

Response to Biesecker

artículo científico publicado en 2017

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

artículo científico publicado en 2009

Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells

artículo científico publicado en 2014

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study ⬇️

artículo científico publicado el 5 de julio de 2011

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

artículo científico publicado en 2014

The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination

artículo científico publicado en 2008

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

artículo científico publicado en 2014

The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization

artículo científico publicado en 2007

The evolutionary origin of human subtelomeric homologies--or where the ends begin

artículo científico publicado en 2002

The influence of clinical and demographic risk factors on the establishment of head and neck squamous cell carcinoma cell lines

artículo científico publicado en 2006

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

artículo científico publicado en 2015

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting

artículo científico publicado en 2013

Using ClinVar as a Resource to Support Variant Interpretation

artículo científico publicado en 2016

What is sleep? Alan Alda and 20,000 kids want to know

artículo científico publicado en 2015

Lista de obras de Christa Lese Martin

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

A locus for bilateral perisylvian polymicrogyria maps to Xq28

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

Autism and cytogenetic abnormalities: solving autism one chromosome at a time

Behavioral characterization of a white-throated sparrow homozygous for the ZAL2(m) chromosomal rearrangement

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature

Chromosomal microarray versus karyotyping for prenatal diagnosis

ClinGen--the Clinical Genome Resource

ClinVar Is a Critical Resource to Advance Variant Interpretation

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion

Common genetic variants, acting additively, are a major source of risk for autism

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Copy number variants, aneuploidies, and human disease

Cryptic telomere imbalance: a 15-year update

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Development of a consent resource for genomic data sharing in the clinical setting

Diagnostic interpretation of array data using public databases and internet sources

Diverse fates of paralogs following segmental duplication of telomeric genes

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements ⬇️

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Evolution of a bitter taste receptor gene cluster in a New World sparrow

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

Genotype/phenotype correlations in two patients with 12q subtelomere deletions

Haplotype-Based Genomic Sequencing of a Chromosomal Polymorphism in the White-Throated Sparrow (Zonotrichia albicollis) ⬇️

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

Large inverted duplications in the human genome form via a fold-back mechanism

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Loss of δ-catenin function in severe autism

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

Molecular cytogenetic analysis of telomere rearrangements

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomi

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Rare copy number variation in cerebral palsy

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

Response to Biesecker

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study ⬇️

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization

The evolutionary origin of human subtelomeric homologies--or where the ends begin

The influence of clinical and demographic risk factors on the establishment of head and neck squamous cell carcinoma cell lines

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Using ClinVar as a Resource to Support Variant Interpretation

What is sleep? Alan Alda and 20,000 kids want to know