Lista de obras - Wendy Chung - Dominio Público Uruguay

A qualitative study of Latinx parents' experiences of clinical exome sequencing

scientific article published on 16 April 2020

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

artículo científico publicado en 2016

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication

artículo científico publicado en 2019

Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda

artículo científico publicado en 2008

Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research

artículo científico publicado en 2015

Attitudes and practices among internists concerning genetic testing

artículo científico publicado en 2012

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

artículo científico publicado en 2015

Can Clinical Genetics Laboratories be Sued for Medical Malpractice?

artículo científico publicado en 2020

Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?

artículo científico publicado en 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

Clinical phenotype of the recurrent 1q21.1 copy-number variant

artículo científico publicado en 2015

Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

artículo científico publicado en 2022

Comparing Five-Year and Lifetime Risks of Breast Cancer in the Prospective Family Study Cohort

artículo científico publicado en 2020

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

artículo científico publicado en 2017

Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

scientific article published on 01 October 2019

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

artículo científico publicado en 2014

Developmental basis of trachea-esophageal birth defects

artículo científico publicado en 2021

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

artículo científico publicado en 2019

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

scientific article published on 01 October 2019

Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice

scientific article published on 11 October 2019

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing

scientific article published on 26 December 2020

Genes that drive the pathobiology of pediatric pulmonary arterial hypertension

scientific article published on 09 January 2020

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

artículo científico publicado en 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

artículo científico publicado en 2019

Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline.

artículo científico publicado en 2019

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study

artículo científico publicado en 2017

Impact of patient education videos on genetic counseling outcomes after exome sequencing

scientific article published on 24 August 2019

Incidental findings in the era of whole genome sequencing?

artículo científico publicado en 2013

Increasing genomic literacy among adolescents

scientific article published on 14 September 2018

Informed consent for return of incidental findings in genomic research

artículo científico publicado en 2013

Is there a duty to reinterpret genetic data? The ethical dimensions

scientific article published on 15 October 2019

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

artículo científico publicado en 2020

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

artículo científico publicado en 2022

Models of consent to return of incidental findings in genomic research

artículo científico publicado en 2014

Neurogenetic disorders across the lifespan: from aberrant development to degeneration

artículo científico publicado en 2022

Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.

artículo científico publicado en 2015

Parental perceptions of prenatal whole exome sequencing (PPPWES) study

scientific article published on 05 August 2018

Preimplantation genetic diagnosis on in vitro fertilization clinic websites: presentations of risks, benefits and other information

artículo científico publicado en 2009

Processes and factors involved in decisions regarding return of incidental genomic findings in research

artículo científico publicado en 2013

Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests

artículo científico publicado en 2014

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

artículo científico publicado en 2020

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

artículo científico publicado en 2016

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers

artículo científico publicado en 2016

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research

artículo científico publicado en 2016

Researchers' views on informed consent for return of secondary results in genomic research.

artículo científico publicado en 2014

Researchers' views on return of incidental genomic research results: qualitative and quantitative findings

artículo científico publicado en 2013

Response to Faulkner et al

scientific article published on 02 September 2020

Return of secondary genomic findings vs patient autonomy: implications for medical care

artículo científico publicado en 2013

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

artículo científico publicado en 2020

Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers

scientific article published on 03 July 2019

Should life insurers have access to genetic test results?

artículo científico publicado en 2014

The authors reply

article

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

artículo científico publicado en 2016

Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach

artículo científico publicado en 2018

Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training

artículo científico publicado en 2013

Views of internists towards uses of PGD

artículo científico publicado en 2012

Views of preimplantation genetic diagnosis among psychiatrists and neurologists

artículo científico publicado en 2014

Wendy Chung: Autismo: lo que sabemos (y lo que aún no sabemos)

TED2014

Lista de obras de Wendy Chung

A qualitative study of Latinx parents' experiences of clinical exome sequencing

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

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication

Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda

Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research

Attitudes and practices among internists concerning genetic testing

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

Can Clinical Genetics Laboratories be Sued for Medical Malpractice?

Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?

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 phenotype of the recurrent 1q21.1 copy-number variant

Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

Comparing Five-Year and Lifetime Risks of Breast Cancer in the Prospective Family Study Cohort

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

Developmental basis of trachea-esophageal birth defects

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing

Genes that drive the pathobiology of pediatric pulmonary arterial hypertension

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study

Impact of patient education videos on genetic counseling outcomes after exome sequencing

Incidental findings in the era of whole genome sequencing?

Increasing genomic literacy among adolescents

Informed consent for return of incidental findings in genomic research

Is there a duty to reinterpret genetic data? The ethical dimensions

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Models of consent to return of incidental findings in genomic research

Neurogenetic disorders across the lifespan: from aberrant development to degeneration

Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.

Parental perceptions of prenatal whole exome sequencing (PPPWES) study

Preimplantation genetic diagnosis on in vitro fertilization clinic websites: presentations of risks, benefits and other information

Processes and factors involved in decisions regarding return of incidental genomic findings in research

Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research

Researchers' views on informed consent for return of secondary results in genomic research.

Researchers' views on return of incidental genomic research results: qualitative and quantitative findings

Response to Faulkner et al

Return of secondary genomic findings vs patient autonomy: implications for medical care

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers

Should life insurers have access to genetic test results?

The authors reply

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach

Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training

Views of internists towards uses of PGD

Views of preimplantation genetic diagnosis among psychiatrists and neurologists

Wendy Chung: Autismo: lo que sabemos (y lo que aún no sabemos)