Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.

Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet (2013) 1.79

Risks to relatives in genomic research: a duty to warn? Am J Bioeth (2012) 1.19

Family decision maker perspectives on the return of genetic results in biobanking research. Genet Med (2015) 1.15

Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. Mayo Clin Proc (2014) 1.03

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations. J Law Med Ethics (2015) 1.02

What does the duty to warn require? Am J Bioeth (2013) 0.97

The ever-evolving concept of clinical significance and the potential for sins of omission in genetic research. Am J Bioeth (2012) 0.95

Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death. J Law Med Ethics (2015) 0.95

Beneficence, clinical urgency, and the return of individual research results to relatives. Am J Bioeth (2012) 0.93

Disclosing individual genetic research results to deceased participants' relatives by means of a qualified disclosure policy. Am J Bioeth (2012) 0.92

Disclosing decedents' research results to relatives violates the HIPAA Privacy Rule. Am J Bioeth (2012) 0.90

Disclosure/disruption: considering why not to disclose genetic information after death. Am J Bioeth (2012) 0.86

Clinically significant? Depends on whom you ask. Am J Bioeth (2012) 0.85

Disclosing results to genomic research participants: differences that matter. Am J Bioeth (2012) 0.83

Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles. J Law Med Ethics (2015) 0.82

International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access. J Law Med Ethics (2015) 0.81

Grappling with genomic incidental findings in the clinical realm. Chest (2014) 0.77

INTRODUCTION: Return of Research Results: What About the Family? J Law Med Ethics (2015) 0.76

Blurring boundaries. Am J Bioeth (2012) 0.75

Rethinking clinical risk for DNA sequencing. Am J Bioeth (2012) 0.75

Response to open peer commentaries on "Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives". Am J Bioeth (2012) 0.75

Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics (2015) 0.75

Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks. Genet Test Mol Biomarkers (2017) 0.75

Impact of Next Generation Sequencing on the Organization and Funding of Returning Research Results: Survey of Canadian Research Ethics Boards Members. PLoS One (2016) 0.75

Disclosing individual genetic results to research participants. Am J Bioeth (2006) 22.12

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 8.41

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74

The emergence of an ethical duty to disclose genetic research results: international perspectives. Eur J Hum Genet (2006) 5.34

The "duty to warn" a patient's family members about hereditary disease risks. JAMA (2004) 4.13

Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet (2010) 3.83

Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet (2011) 2.64

Role of next of kin in accessing health records of deceased relatives. BMJ (2004) 2.48

Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet (2007) 2.15

Disclosure of genetic information obtained through research. Genet Test (2004) 2.02

Disclosing genetic research results after death of pediatric patients. JAMA (2008) 1.26

Communicating genetics research results to families: problems arising when the patient participant is deceased. Psychooncology (2008) 1.22

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70

A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26

Do researchers have an obligation to actively look for genetic incidental findings? Am J Bioeth (2013) 8.18

Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth (2014) 7.34

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45

Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09

Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A (2011) 2.93

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet (2011) 2.64

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47

Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40

Elements of morphology: introduction. Am J Med Genet A (2009) 2.39

Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA (2002) 2.30

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A (2008) 2.17

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A (2007) 2.16

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet (2013) 2.15

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet (2012) 1.91

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol (2004) 1.91

The use of medical records in research: what do patients want? J Law Med Ethics (2003) 1.91

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88

Pediatric biobanks: approaching informed consent for continuing research after children grow up. J Pediatr (2009) 1.79

Direct-to-consumer sales of genetic services on the Internet. Genet Med (2003) 1.78

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A (2004) 1.77

Next-generation sequencing demands next-generation phenotyping. Hum Mutat (2012) 1.75

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet (2012) 1.74

The invisible hand in clinical research: the study coordinator's critical role in human subjects protection. J Law Med Ethics (2002) 1.72

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Hum Mutat (2012) 1.71

Radiologic manifestations of Proteus syndrome. Radiographics (2004) 1.66

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet (2011) 1.65

Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A (2003) 1.62

Carrier screening panels for Ashkenazi Jews: is more better? Genet Med (2005) 1.60

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA (2013) 1.48

Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48

Disclosure of incidental findings from next-generation sequencing in pediatric genomic research. Pediatrics (2013) 1.44

A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44

Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A (2003) 1.43

When Should Genome Researchers Disclose Misattributed Parentage? Hastings Cent Rep (2015) 1.42

Consent forms and the therapeutic misconception: the example of gene transfer research. IRB (2005) 1.42

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40

Exome sequencing: the expert view. Genome Biol (2011) 1.37

Validation of My Family Health Portrait for six common heritable conditions. Genet Med (2010) 1.31

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A (2014) 1.31

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30

Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. J Neurosci (2008) 1.30

Anabaptist genealogy database. Am J Med Genet C Semin Med Genet (2003) 1.28

Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27

The limits of disclosure: what research subjects want to know about investigator financial interests. J Law Med Ethics (2006) 1.26

The DISCUSS Project: induced pluripotent stem cell lines from previously collected research biospecimens and informed consent: points to consider. Stem Cells Transl Med (2013) 1.26

Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet (2002) 1.25

Diagnostic clinical genome and exome sequencing. N Engl J Med (2014) 1.24

Specimen collection for induced pluripotent stem cell research: harmonizing the approach to informed consent. Stem Cells Transl Med (2012) 1.24

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A (2003) 1.23

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A (2006) 1.21

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol (2010) 1.21

Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions. Am J Med Genet C Semin Med Genet (2003) 1.20

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20

Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg (2002) 1.20

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Brain (2011) 1.18

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A (2011) 1.16

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat (2012) 1.15

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet (2011) 1.15

Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia (2005) 1.15

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling. Am J Med Genet C Semin Med Genet (2006) 1.14

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab (2011) 1.10

Epidemiology. DNA identifications after the 9/11 World Trade Center attack. Science (2005) 1.09

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. BMC Med Genet (2008) 1.08

The clinical atlas of Greig cephalopolysyndactyly syndrome. Am J Med Genet A (2008) 1.07

A framework for analyzing the ethics of disclosing genetic research findings. J Law Med Ethics (2014) 1.04

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J Clin Invest (2011) 1.03

Antibullying legislation: a public health perspective. J Adolesc Health (2008) 1.03

Developing cellular therapies for retinal degenerative diseases. Invest Ophthalmol Vis Sci (2014) 1.03

Characterizing genetic variants for clinical action. Am J Med Genet C Semin Med Genet (2014) 1.02

Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions. Am J Med Genet A (2004) 1.02

Secondary variants and human subjects research. Genet Med (2013) 1.02

Databases of genomic variation and phenotypes: existing resources and future needs. Hum Mol Genet (2013) 1.01

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet (2002) 1.01

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet (2014) 1.01

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. Hum Mol Genet (2007) 1.00

Medical genetic studies in the Amish: historical perspective. Am J Med Genet C Semin Med Genet (2003) 0.99

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet (2016) 0.99