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Author Details

Flavia M Facio
Invitae Corporation
2004
26
12
PMIDPaper TitleJournal TitlePublished Year
37386251Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.Nat Genet2023
37878314Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA Netw Open2023
37386251Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.Nat Genet2023
37507620Applications of artificial intelligence in clinical laboratory genomics.Am J Med Genet C Semin Med Genet2023
37507620Applications of artificial intelligence in clinical laboratory genomics.Am J Med Genet C Semin Med Genet2023
37878314Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA Netw Open2023
33389762Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.Muscle Nerve2021
33389762Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.Muscle Nerve2021
34433902A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genet Med2021
34652576TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.Hum Genet2021
34433902A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genet Med2021
34652576TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.Hum Genet2021
32328577Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.Brain Commun2020
32328577Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.Brain Commun2020
30653790Using the diffusion of innovations model to guide participant engagement in the genomics era.J Genet Couns2019
30653790Using the diffusion of innovations model to guide participant engagement in the genomics era.J Genet Couns2019
25521335Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.Genet Med2015
25521335Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.Genet Med2015
24151055A genetic counselor's guide to using next-generation sequencing in clinical practice.J Genet Couns2014
24151055A genetic counselor's guide to using next-generation sequencing in clinical practice.J Genet Couns2014
24281371Research participants' attitudes towards the confidentiality of genomic sequence information.Eur J Hum Genet2014
24281371Research participants' attitudes towards the confidentiality of genomic sequence information.Eur J Hum Genet2014
22892536Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.Eur J Hum Genet2013
22892536Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.Eur J Hum Genet2013
23430401Stem cell research and therapy: the position of the National Society of Genetic Counselors.J Genet Couns2013
23334531Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.J Genet Couns2013
23430401Stem cell research and therapy: the position of the National Society of Genetic Counselors.J Genet Couns2013
23334531Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.J Genet Couns2013
22694298Effects of informed consent for individual genome sequencing on relevant knowledge.Clin Genet2012
22974017Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.Am J Bioeth2012
22703879Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.Am J Hum Genet2012
22694298Effects of informed consent for individual genome sequencing on relevant knowledge.Clin Genet2012
23046515Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.BMC Med Genomics2012
22974017Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.Am J Bioeth2012
23046515Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.BMC Med Genomics2012
22703879Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.Am J Hum Genet2012
21731059Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.Eur J Hum Genet2011
21731059Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.Eur J Hum Genet2011
20619839FOS expression in blood as a LDL-independent marker of statin treatment.Atherosclerosis2010
20619839FOS expression in blood as a LDL-independent marker of statin treatment.Atherosclerosis2010
20479646Validation of My Family Health Portrait for six common heritable conditions.Genet Med2010
20479646Validation of My Family Health Portrait for six common heritable conditions.Genet Med2010
19602640The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.Genome Res2009
19602640The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.Genome Res2009
17098889Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.J Med Genet2007
17098889Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.J Med Genet2007
17085407One size does not fit all.Am J Bioeth2006
17085407One size does not fit all.Am J Bioeth2006
15951970The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.Fam Cancer2005
15951970The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.Fam Cancer2005
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Collaborators

Leslie G Biesecker
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Co-authored papers 13
Barbara B Biesecker
and Translational Research Center
Co-authored papers 4
Bryn D Webb
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Co-authored papers 4
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Dartmouth Geisel School of Medicine
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Narisu Narisu
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Rose-Mary Boustany
American University of Beirut Medical Center
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Tianxia Wu
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Robert L Walker
Center for Cancer Research, National Cancer Institute, National Institutes of Health
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Monkol Lek
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Kathryn E Hatchell
Invitae Corporation
Co-authored papers 1
Clesson Turner
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Co-authored papers 1
Lori L Bonnycastle
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David A Mackey
Lions Eye Institute, University of Western Australia
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Amy J Swift
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Stuart H Orkin
Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School
Co-authored papers 1
Leila Jamal
Center for Cancer Research, National Cancer Institute
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Release 1.2