Lista de obras -

"Before Facebook and before social media…we did not know anybody else that had this": parent perspectives on internet and social media use during the pediatric clinical genetic testing process

artículo científico publicado en 2018

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

Actionable, pathogenic incidental findings in 1,000 participants' exomes

artículo científico publicado en 2013

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

Assessing genetic counselors' experiences with physician aid-in-dying and practice implications

scientific article published on 28 January 2019

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

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

Exome sequencing identifies the cause of a mendelian disorder

artículo científico publicado en 2010

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

artículo científico publicado en 2016

High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report

artículo científico publicado en 2019

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

artículo científico publicado en 2016

Non-invasive fetal genome sequencing: opportunities and challenges

artículo científico publicado en 2012

Noninvasive whole-genome sequencing of a human fetus.

artículo científico publicado en 2012

Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment

artículo científico publicado en 2011

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

scientific article published on 30 June 2020

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

artículo científico publicado en 2011

Lista de obras de

"Before Facebook and before social media…we did not know anybody else that had this": parent perspectives on internet and social media use during the pediatric clinical genetic testing process

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Actionable, pathogenic incidental findings in 1,000 participants' exomes

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Assessing genetic counselors' experiences with physician aid-in-dying and practice implications

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

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

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies the cause of a mendelian disorder

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

Non-invasive fetal genome sequencing: opportunities and challenges

Noninvasive whole-genome sequencing of a human fetus.

Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome