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Center Research Publications

The paradox of care in behavioral epigenetics: Constructing early-life adversity in the lab

2018
Lappé, M. BioSocieties (2018) 13: 698. https://doi.org/10.1057/s41292-017-0090-z
Many epigenetic studies focus on how stress, trauma, and care become molecularly embodied, affect gene expression without changing DNA sequence, and produce changes that ... Read more »

Increasing genomic literacy among adolescents

2018
Sabatello, M., Chen, Y., Sanderson, S. C., Chung, W. K., & Appelbaum, P. S. (2018). Increasing genomic literacy among adolescents. Genetics in Medicine. doi:10.1038/s41436-018-0275-2
Purpose Adolescents increasingly need to be “genomics literate,” and may engage more with video educational formats than traditional written formats. We conducted a pilot study ... Read more »

Return of individual results in epilepsy genomic research: A view from the field

2018
Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia. 2018 September;59(9):1635-1642. PubMed PMID: 30098010; PubMed Central PMCID: PMC6119474.
Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K. Disclosure of individual results to ... Read more »

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

2018Free on Pubmed
Amendola, L.M., Robinson, J.O., Hart, R. et al. J Genet Counsel (2018) 27: 1220. https://doi.org/10.1007/s10897-018-0243-7
Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic ... Read more »

Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

2018
Mulhern M, Bier L, Alcalay RN, Balwani M. Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. Journal of genetic counseling. 2018 June;27(3):675-680. PubMed PMID: 28963610; PubMed Central PMCID: PMC5878114.
Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link ... Read more »

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

2018
Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. Clinical genetics. 2018 May;93(5):1039-1048. PubMed PMID: 29266212; PubMed Central PMCID: PMC5899627.
Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the ... Read more »

Precision Medicine, Health Disparities and Ethics: The Case for Disability Inclusion

2018Free on Pubmed
Sabatello M. Precision medicine, health disparities, and ethics: the case for disability inclusion. Genetics in medicine : official journal of the American College of Medical Genetics. 2018 April;20(4):397-399. PubMed PMID: 28771252; PubMed Central PMCID: PMC5797520.
Precision medicine research (PMR) is gaining momentum across the healthcare landscape in the United States (U.S.). The 2015 announcement of the Precision Medicine Initiative ... Read more »

A Genomically Informed Education System? Challenges for Behavioral Genetics

2018
Sabatello M. A Genomically Informed Education System? Challenges for Behavioral Genetics. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics. 2018 March 27;46(1):130-144. PubMed PMID: 29805246; PubMed Central PMCID: PMC5967657.
The exponential growth of genetic knowledge and precision medicine research raises hopes for improved prevention, diagnosis, and treatment options for children with behavioral and ... Read more »

Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing.

2018
Spector-Bagdady K, Prince AER, Yu JH, Appelbaum PS. Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing. American journal of medical genetics. Part C, Seminars in medical genetics. 2018 March 22;178(1):81-88. PubMed PMID: 29566453; PubMed Central PMCID: PMC5994926.
This article assesses the adequacy of informed consent to clinical genetic testing laws based on an examination of 15 states with institutions that had ... Read more »

Predictive testing and clinical trials in Huntington’s disease: An ethical analysis

2018
Sampaio C, Levey J, Klitzman R. Predictive testing and clinical trials in Huntington's disease: An ethical analysis. Movement disorders: official journal of the Movement Disorder Society. 2018 February;33(2):243-247. PubMed PMID: 29205501; PubMed Central PMCID: PMC5854324.
Dilemmas arise concerning how to design studies aimed at preventing or slowing Huntington's disease (HD) in mutation-positive presymptomatic individuals. HD is an autosomal-dominant neurodegenerative ... Read more »
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