Lista de obras -

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

artículo científico publicado en 2016

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

artículo científico publicado en 2018

Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation

scientific article published on 11 April 2019

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

artículo científico publicado en 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

artículo científico publicado en 2013

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma ⬇️

artículo científico publicado el 16 de junio de 2011

Current Controversies in Prenatal Diagnosis 2: NIPT Results Suggesting Maternal Cancer Should Always Be Disclosed

artículo científico publicado en 2018

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

artículo científico publicado en 2014

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

artículo científico publicado en 2016

Framework for microRNA variant annotation and prioritization using human population and disease datasets

artículo científico publicado en 2018

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

artículo científico publicado en 2018

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

scientific article published on 23 October 2019

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

artículo científico publicado en 2017

Incidental copy-number variants identified by routine genome testing in a clinical population

artículo científico publicado en 2012

Insights from the 2018 Biology of Genomes meeting

artículo científico publicado en 2018

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

artículo científico publicado en 2015

Key Implications of Data Sharing in Pediatric Genomics

article by Vasiliki Rahimzadeh et al published 1 May 2018 in JAMA Pediatrics

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects

artículo científico publicado en 2020

Molecular diagnostic experience of whole-exome sequencing in adult patients

artículo científico publicado en 2015

Molecular findings among patients referred for clinical whole-exome sequencing

artículo científico publicado en 2014

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

artículo científico publicado en 2019

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

artículo científico publicado en 2014

Parent decision-making around the genetic testing of children for germline TP53 mutations

artículo científico publicado en 2014

Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

artículo científico publicado en 2015

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2013

Recommendations for the integration of genomics into clinical practice

artículo científico

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

artículo científico publicado en 2016

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Lista de obras de

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma ⬇️

Current Controversies in Prenatal Diagnosis 2: NIPT Results Suggesting Maternal Cancer Should Always Be Disclosed

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

Framework for microRNA variant annotation and prioritization using human population and disease datasets

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Incidental copy-number variants identified by routine genome testing in a clinical population

Insights from the 2018 Biology of Genomes meeting

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

Key Implications of Data Sharing in Pediatric Genomics

Lessons learned from additional research analyses of unsolved clinical exome cases

Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects

Molecular diagnostic experience of whole-exome sequencing in adult patients

Molecular findings among patients referred for clinical whole-exome sequencing

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

Parent decision-making around the genetic testing of children for germline TP53 mutations

Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Recommendations for the integration of genomics into clinical practice

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.