Flavia M. Facio

发表

A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice

Kristy Lee, Julianne M. O’Daniel, Kristy Lee, 2014, Journal of Genetic Counseling.

Research in Genomic Medicine the Clinseq Project: Piloting Large-scale Genome Sequencing for Material Supplemental

Alexander F. Wilson, A. F. Wilson, J. Mullikin, 2009 .

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Larry N. Singh, J. Mullikin, W. Rubinstein, 2012, American journal of human genetics.

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

J. Ellison, P. Meltzer, S. Davis, 2006, Journal of Medical Genetics.

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

Leslie G Biesecker, Kimberly A Kaphingst, Flavia M Facio, 2012, European Journal of Human Genetics.

Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants’ Relatives

L. Biesecker, S. Hull, F. Facio, 2012, The American journal of bioethics : AJOB.

Validation of My Family Health Portrait for six common heritable conditions

Leslie G Biesecker, Kandamurugu Manickam, Neal Oden, 2010, Genetics in Medicine.

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Leslie G Biesecker, Flavia M Facio, Johanna Loewenstein, 2011, European Journal of Human Genetics.

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

F. Collins, E. Jabs, C. Toro, 2021, Muscle & nerve.

A systematic literature review of disclosure practices and reported outcomes for medically-actionable genomic secondary findings

Julie C. Sapp, L. Biesecker, P. J. van der Wees, 2021, Genetics in Medicine.

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

F. Collins, C. Pierpaoli, E. Jabs, 2020, Brain communications.

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Janice S. Lee, F. Collins, E. Jabs, 2021, Human Genetics.

Research participants’ attitudes towards the confidentiality of genomic sequence information

Leslie G Biesecker, Katie Lewis, Flavia M Facio, 2013, European Journal of Human Genetics.

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

K. Ormond, F. Facio, P. Flodman, 2013, Journal of Genetic Counseling.

FOS expression in blood as a LDL-independent marker of statin treatment.

A. Quyyumi, L. Biesecker, P. M. Hwang, 2010, Atherosclerosis.

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

L. Biesecker, F. Facio, A. Linn, 2012, BMC Medical Genomics.

Stem Cell Research and Therapy: The Position of the National Society of Genetic Counselors

B. Kirkpatrick, J. Sapp, S. Hahn, 2013, Journal of Genetic Counseling.

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the U.S. Surgeon General’s My Family Health Portrait

W. G. Feero, L. Biesecker, J. Stopfer, 2014, Genetics in Medicine.

Using the diffusion of innovations model to guide participant engagement in the genomics era

Katie L Lewis, Flavia M Facio, Courtney D Berrios, 2019, Journal of genetic counseling.