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Michelle Primiano · SciRah

Researcher profile · Semantic Scholar

Michelle Primiano

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Michelle Primiano — researcher profile on SciRah

h-index: 8
Works: 34
Citations: 295

Most-cited papers

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
F. L. Harms, K. Girisha, Andrew A. Hardigan, F. Kortüm +29 more
2016American Journal of Human Genetics79 citations Open access
Semantic Scholar
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P. Hemati, Anya Revah-Politi, H. Bassan, S. Petrovski +48 more
2018American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact
J. Wynn, Ruth Ottman, Jimmy Duong, A. Wilson +18 more
2018Clinical Genetics53 citations Open access
Semantic Scholar
Impact of Patient Education Videos on Genetic Counseling Outcomes after Exome Sequencing
R. Hernan, M. Cho, A. Wilson, Priyanka Ahimaz +21 more
2019Patient Education and Counseling27 citations Open access
Semantic Scholar
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Maria W A Teunissen, E. Lewerissa, E. V. van Hugte, Shan Wang +27 more
2023Human Molecular Genetics25 citations Open access
Semantic Scholar
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, J. Cohen +23 more
2021Genetics in Medicine17 citations Open access
Semantic Scholar
Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis
M. Ahsan, Isabelle R. Chandler, Samantha Min, Benjamin Grant +8 more
2024Clinical obstetrics and gynecology11 citations
Semantic Scholar
Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling
Emily P Solem, Michelle Primiano, Marshall P McQuillen, Monika Zak Goelz
2020Journal of Genetic Counseling11 citations
Semantic Scholar
Considering screening for hereditary cancer syndromes at the time of obstetrical prenatal carrier screening
Luiza Perez, S. Dioun, Michelle Primiano, S. V. Blank +11 more
2024Cancer6 citations
Semantic Scholar
Redefining holistic care for gynecologic hereditary cancer syndromes through universal social work referrals
Pranya Gaddipati, Sonali Iyer, M. Kirby, Isabelle R. Chandler +7 more
2025Gynecologic Oncology Reports3 citations
Semantic Scholar
Misinterpreting the results: patient misconceptions about genetic cancer risk after obstetrical carrier screening
Alex Raghunandan, Sonali Iyer, S. Dioun, Jessica E. Scholl +5 more
2026Familial Cancer2 citations Open access
Semantic Scholar
ACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-facilitated cascade testing.
Emily S. Epstein, Michelle Primiano, Amanda Laterza Ozarowski, Tina Karimaghaie +15 more
2026Gynecologic Oncology1 citations
Semantic Scholar
Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
F. L. Harms, K. Girisha, Andrew A. Hardigan, F. Kortüm +29 more
2016bioRxiv1 citations Open access
Semantic Scholar
Translating cancer genetics care: Digital tools to improve cancer genetics risk assessment for patients with limited English proficiency
Isabelle R. Chandler, M. Frey, Emily M. Webster, M. Ahsan +10 more
2026JCO Oncology Practice0 citations Open access
Semantic Scholar
Implementing scalable psychosocial interventions to address patient-identified needs in hereditary cancer syndromes.
Emily S. Epstein, Pranya Gaddipati, Sulekha Junnarkar, Michelle Primiano +7 more
2026Journal of Clinical Oncology0 citations
Semantic Scholar
Click to know: Patient satisfaction with direct electronic medical record release of genetic test results
Luiza Perez, T. Soussana, Gregory Speleotes, Sulekha Junnarkar +6 more
2026Gynecologic Oncology0 citations
Semantic Scholar
A personalized digital approach to cancer risk assessment in a diverse gynecology clinic.
Hannah G. Peifer, E. Bruscato, Amanda Laterza Ozarowski, Michelle Primiano +7 more
2026Journal of Clinical Oncology0 citations
Semantic Scholar
Prevalence of germline cancer predisposition pathogenic variants in cancer cohorts.
Sophia Sharaf, Danyal Ahsan, E. Bruscato, M. Kirby +7 more
2026Journal of Clinical Oncology0 citations
Semantic Scholar
A randomized controlled trial of a multilingual digital genetic cancer risk assessment tool in a diverse patient population.
Tina Karimaghaie, Steve Lopez, Isabelle R. Chandler, Amanda Laterza Ozarowski +6 more
2026Journal of Clinical Oncology0 citations
Semantic Scholar
Blueprint for building a patient-centered hereditary cancer program based on stakeholder perspectives
T. Soussana, Michelle Primiano, M. Ahsan, C. Baron +3 more
2026Gynecologic Oncology Reports0 citations
Semantic Scholar
Lost in the referral loop: Improving completion of cancer genetics referrals through targeted patient outreach.
Nitisha Ponnappan, Lauren Mitchell, Tina Karimaghaie, M. Kirby +6 more
2026Journal of Clinical Oncology0 citations
Semantic Scholar
When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling
Isabel R. Murray, M. Ahsan, Lauren Mitchell, Siena Gioia +6 more
2026Familial Cancer0 citations
Semantic Scholar
Improving breast cancer risk detection via digital genetic screening in an underserved population
Roxanna Haghighat, Emily M. Webster, Steve Lopez, Michelle Primiano +4 more
2026Gynecologic Oncology0 citations
Semantic Scholar
Expanding access to hereditary cancer genetic testing: a quality improvement initiative of mainstreaming in a diverse urban gynecology clinic
Alex Raghunandan, Lauren Davis-Rivera, M. Ahsan, Isabelle R. Chandler +6 more
2026Familial Cancer0 citations
Semantic Scholar
Missed opportunities: Leveraging obstetric carrier screening to identify hereditary cancer syndromes earlier
Luiza Perez, S. Dioun, Michelle Primiano, Amanda Laterza Ozarowski +2 more
2026Gynecologic Oncology0 citations
Semantic Scholar
Virtual versus reality: Assessing the accuracy of a digital cancer risk assessment tool in a gynecologic oncology clinic.
S. Perelmuter, A. Leung, M. Ahsan, Emily M. Webster +7 more
2025Gynecologic Oncology0 citations Open access
Semantic Scholar
P135: Integrating germline analysis with tumor sequencing: Advancing cancer genomics
V. Okur, Marilena Melas, Bruce J. Elder, S. T. Srinivasa +8 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
A multidisciplinary pilot program to prevent cardiovascular, bone and neurologic disease among patients with premature surgical menopause
Laura Keenahan, S. Perelmuter, Alicia Mecklai, Panagiota Andreopoulo +9 more
2025Gynecologic Oncology0 citations
Semantic Scholar
Are employees ready to engage in genetic cancer risk assessment in the workplace setting?
Isabelle R. Chandler, J. Brewer, M. Ahsan, T. Soussana +4 more
2024European Journal of Human Genetics0 citations
Semantic Scholar
Feasibility of implementing whole genome sequencing into routine oncology care.
P. Kasi, Emily Dalton, Ravi N. Sharaf, Michelle Primiano +9 more
2024Journal of Clinical Oncology0 citations
Semantic Scholar
Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties
Priyanka Ahimaz, Meredith Ross, Jennah C. Foltz, Monisha Sebastin +4 more
2023Journal of Genetic Counseling0 citations
Semantic Scholar
102. Elucidating the genomic landscape of Prostate Adenocarcinoma through whole genome and transcriptome sequencing
Marilena Melas, Heather Geiger, S. T. Srinivasa, S. Guha +12 more
2022Cancer Genetics0 citations
Semantic Scholar
Cancer risk assessment models versus National Comprehensive Cancer Network guidelines: What is the most comprehensive method to assess cancer risk and triage for genetic testing? (373)
Isabel Wolfe, M. Ahsan, Michelle Primiano, Corbyn M. Nchako +7 more
2022Gynecologic Oncology0 citations
Semantic Scholar
Table of Contents, Volume 176A, Number 11, November 2018
Janet M. Legare, P. Modaff, S. Strom, Richard M. Pauli +54 more
2018American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar

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Ravi N. Sharaf×19
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Amanda Laterza Ozarowski×10
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Steve Lopez — researcher profile on SciRah

Isabelle R. Chandler×8

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Isabelle R. Chandler — researcher profile on SciRah

Melissa K. Frey×8

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Melissa K. Frey — researcher profile on SciRah

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Tina Karimaghaie×6

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Tina Karimaghaie — researcher profile on SciRah

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