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Priyanka Ahimaz · SciRah

Researcher profile · Semantic Scholar

Priyanka Ahimaz

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Priyanka Ahimaz — researcher profile on SciRah

h-index: 12
Works: 24
Citations: 475

Most-cited papers

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Hsiang-Chih Lu, Qiu-Min Tan, Maxime W. C. Rousseaux, Wei Wang +33 more
2017Nature Genetics128 citations Open access
Semantic Scholar
De novo mutations in PURA are associated with hypotonia and developmental delay
Akemi J. Tanaka, Renkui Bai, M. Cho, K. Anyane-Yeboa +10 more
2015Cold Spring Harbor molecular case studies63 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
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
M. Ganapathi, L. Argyriou, F. Martínez-Azorín, S. Morlot +20 more
2020Human Genetics31 citations Open access
Semantic Scholar
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
R. V. van Jaarsveld, Jack Reilly, M. Cornips, M. A. Hadders +55 more
2022Genetics in Medicine30 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
COVID-19’s Impact on Genetics at One Medical Center in New York
E. Pereira, Priyanka Ahimaz, Carli Andrews, K. Anyane-Yeboa +29 more
2020Genetics in Medicine21 citations Open access
Semantic Scholar
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
J. Wynn, David T. Holland, Jimmy Duong, Priyanka Ahimaz +1 more
2018Journal of Genetic Counseling21 citations
Semantic Scholar
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
A. Guimier, M. T. Achleitner, Anne Moreau de Bellaing, M. Edwards +56 more
2021Genetics in Medicine20 citations Open access
Semantic Scholar
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
M. Ganapathi, Leticia S. Matsuoka, Michael E. March, Dong Li +32 more
2023European Journal of Human Genetics18 citations Open access
Semantic Scholar
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
Noraldin Al-Deri, V. Okur, Priyanka Ahimaz, Miroslav P. Milev +6 more
2020Journal of Medical Genetics14 citations Open access
Semantic Scholar
Genetic counselors' utilization of ChatGPT in professional practice: A cross‐sectional study
Priyanka Ahimaz, Amanda L. Bergner, Michelle E. Florido, Nina Harkavy +1 more
2023American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
COVID contingencies: Early epicenter experiences of different genetics clinics at a New York City institution inform emergency adaptation strategies
Priyanka Ahimaz, J. Giordano, Michel Disco, E. Harrington +6 more
2021Journal of Genetic Counseling11 citations Open access
Semantic Scholar
The Impact of Genetic Testing for Cardiomyopathy on Emotional Well-being and Family Dynamics: A Study of Parents and Adolescents
Priyanka Ahimaz, Maya Sabatello, Min Qian, Ai-Jin Wang +14 more
2021Circulation Genomic and Precision Medicine8 citations Open access
Semantic Scholar
Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine
Andrew Freiman, Aisha Rekab, Amanda L. Bergner, E. Pereira +2 more
2023American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
A. Guimier, M. T. Achleitner, Anne Moreau de Bellaing, M. Edwards +56 more
2022Genetics in Medicine4 citations Open access
Semantic Scholar
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome
Priyanka Ahimaz, Tamar Kramer, P. Swaroop, M. Mitchell +3 more
2022American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics
C. Cheung, Sara M. Berger, Meredith Ross, Tamar Kramer +6 more
2024Journal of Genetic Counseling2 citations
Semantic Scholar
Exploring the Role of Genetic Counselors in Immunology: A Study of Immunologists' and Allergists' Perspectives.
Priyanka Ahimaz, Jennah C. Foltz, Meredith Ross, Michelle E. Florido +2 more
2023Journal of Allergy and Clinical Immunology: In Practice2 citations
Semantic Scholar
Assessing patient communication preferences for reclassified variants of uncertain significance in a general genetics clinic
Eden R Brush, Ketki Naik, Charlotte Close, Nora Nesheiwat +3 more
2026Journal of Genetic Counseling1 citations
Semantic Scholar
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
M. Ganapathi, Christie Buchovecky, Fernando Cristo, Priyanka Ahimaz +6 more
2022Cold Spring Harbor molecular case studies1 citations Open access
Semantic Scholar
Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases
Q. Nguyen, Fang-Yi Chen, Cong Liu, I. Campbell +9 more
2026medRxiv0 citations
Semantic Scholar
Exploring job search experiences of genetic counselors who matriculated as international students in the United States: A cross‐sectional study
Monisha Sebastin, Tanaya Shroff, Natalie A. Boychuk, Niamh Mulrooney +1 more
2025Journal of Genetic Counseling0 citations Open access
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

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