Lista de obras -

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

artículo científico publicado en 2012

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

article

An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program

artículo científico

An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing

artículo científico publicado en 2014

Chromosomal microarray impacts clinical management ⬇️

artículo científico publicado el 21 de febrero de 2013

Chromosomal microarray testing ⬇️

artículo científico publicado el 1 de enero de 2012

ClinGen's GenomeConnect registry enables patient-centered data sharing

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

artículo científico publicado en 2015

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

article

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

artículo científico publicado en 2016

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

artículo científico publicado en 2017

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

scientific article published on 07 September 2018

Genetic Testing: Consent and Result Disclosure for Primary Care Providers

scientific article published on 20 August 2019

Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices

scientific article published on 01 June 2006

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

artículo científico publicado en 2015

How Geisinger made the case for an institutional duty to return genomic results to biobank participants

artículo científico publicado en 2016

Human Germline Genome Editing

artículo científico publicado en 2017

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

artículo científico publicado en 2017

International Standard Cytogenomic Array Consortium. Interview by Alyson Krokosky, Sharon F Terry

artículo científico publicado en 2010

International genetic testing

artículo científico publicado en 2003

Issues in genetic testing for ultra-rare diseases: background and introduction

artículo científico publicado en 2008

PAs and the practice of genetic medicine

artículo científico publicado en 2008

Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

article

Standardizing Variant Interpretation in Genomic Sequencing: Implications for Genetic Counseling Practice

artículo científico publicado en 2015

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future ⬇️

artículo científico publicado el 6 de junio de 2013

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

artículo científico publicado en 2016

The Laboratory‐Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing ⬇️

artículo científico publicado el 18 de mayo de 2012

The effect of gestational age on the detection rate of Down's syndrome by maternal serum α-fetoprotein screening ⬇️

artículo científico publicado el 1 de noviembre de 1991

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

artículo científico publicado en 2015

Toward clinical genomics in everyday medicine: perspectives and recommendations

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Lista de obras de

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

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program

An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing

Chromosomal microarray impacts clinical management ⬇️

Chromosomal microarray testing ⬇️

ClinGen's GenomeConnect registry enables patient-centered data sharing

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

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Genetic Testing: Consent and Result Disclosure for Primary Care Providers

Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices

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

How Geisinger made the case for an institutional duty to return genomic results to biobank participants

Human Germline Genome Editing

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

International Standard Cytogenomic Array Consortium. Interview by Alyson Krokosky, Sharon F Terry

International genetic testing

Issues in genetic testing for ultra-rare diseases: background and introduction

PAs and the practice of genetic medicine

Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

Standardizing Variant Interpretation in Genomic Sequencing: Implications for Genetic Counseling Practice

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future ⬇️

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

The Laboratory‐Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing ⬇️

The effect of gestational age on the detection rate of Down's syndrome by maternal serum α-fetoprotein screening ⬇️

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

Toward clinical genomics in everyday medicine: perspectives and recommendations

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