Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Ultrasensitive Measurement of Hotspot Mutations in Tumor DNA in Blood Using Error-Suppressed Multiplexed Deep Sequencing
2012
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing
2013
Public’s attitudes on participation in a biobank for research: an Italian survey
2014
Psychological Aspects of the Treatment of Patients with Disorders of Sex Development
2012
Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project
2012
Is thrombin generation at the time of an acute thromboembolic episode a predictor of recurrence? The LInköping Study on Thrombosis (LIST) – A 7-year follow-up
2012 StandoutNobel
Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study
2013
Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies
2013
Using electronic health records to drive discovery in disease genomics
2011
Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents
2017 Standout
Primary care patients’ views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study
2013
Understanding normal development of adolescent sexuality: A bumpy ride
2015 Standout
Ethical and Legal Aspects of Cancer Genetic Testing
2007
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study
2015 Standout
Multimodal biomedical AI
2022 Standout
The “All of Us” Research Program
2019 Standout
Privacy in the age of medical big data
2018 Standout
Axes of a revolution: challenges and promises of big data in healthcare
2020
Perinatal systemic gene delivery using adeno-associated viral vectors
2014
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Is Deidentification Sufficient to Protect Health Privacy in Research?
2010
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 Standout
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
2014 Standout
Preimplantation Genetic Diagnosis for Cancer Syndromes
2006
Psychological impact of preimplantation genetic diagnosis: a review of the literature
2009
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
2012
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
2013 Standout
Non-invasive prenatal testing: a review of international implementation and challenges
2015
ESHRE guideline: routine psychosocial care in infertility and medically assisted reproduction—a guide for fertility staff: Figure 1
2015 Standout
Down syndrome
2020 Standout
Mining electronic health records: towards better research applications and clinical care
2012 Standout
Supporting the Health Care Transition From Adolescence to Adulthood in the Medical Home
2018
A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD
2010
A Survey of U.S Adults’ Opinions about Conduct of a Nationwide Precision Medicine Initiative® Cohort Study of Genes and Environment
2016
Increased thrombin generation in splanchnic vein thrombosis is related to the presence of liver cirrhosis and not to the thrombotic event
2014 StandoutNobel
ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States
2007
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network
2012
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
2015 Standout
Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association
2009 Standout
ESHRE guideline: recurrent pregnancy loss
2018 Standout
Personal genomes in progress: from the Human Genome Project to the Personal Genome Project
2010
ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States
2007 Standout
Clinical Trial Participants’ Views of the Risks and Benefits of Data Sharing
2018
O processo de desenvolvimento da Pesquisa Nacional de Saúde no Brasil, 2013
2015 Standout
Informed Consent and Genomic Incidental Findings: IRB Chair Perspectives
2011
Genomic Analysis of Fetal Nucleic Acids in Maternal Blood
2012
Offering Individual Genetic Research Results: Context Matters
2010
Ionizable lipid nanoparticles for in utero mRNA delivery
2021 StandoutNobel
Is Thrombophilia Testing Useful?
2011
Citizens’ Values Regarding Research With Stored Samples From Newborn Screening in Canada
2012
Preterm labor: One syndrome, many causes
2014 StandoutScience
Liquid Biopsies: Genotyping Circulating Tumor DNA
2014 Standout
A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report
2006 Standout
Standardization of sample collection, isolation and analysis methods in extracellular vesicle research
2013 Standout
Practice variability in prenatal genetic counseling
1994
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Joan Scott being referenced
A Blueprint for Change: Guiding Principles for a System of Services for Children and Youth With Special Health Care Needs and Their Families
2022
Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA
2011
PGD patients' and providers' attitudes to the use and regulation of preimplantation genetic diagnosis
2005
Opinions about new reproductive genetic technologies: Hopes and fears for our genetic future
2005
Public Opinion about the Importance of Privacy in Biobank Research
2009
Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review
2012
Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study
2012
Oversight of US genetic testing laboratories
2006
Public Expectations for Return of Results from Large-Cohort Genetic Research
2008
Subjects matter: a survey of public opinions about a large genetic cohort study
2008
Veterans' attitudes regarding a database for genomic research
2009
Risky Business: Risk Perception and the Use of Medical Services among Customers of DTC Personal Genetic Testing
2012
Introductory comments
1992
Public Perspectives on Informed Consent for Biobanking
2009
Preparing Health Professionals for Individualized Medicine
2012
Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members
2011