| Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ... Nature genetics 49 (4), 527-536, 2017 | 135 | 2017 |
| De novo mutations in PURA are associated with hypotonia and developmental delay AJ Tanaka, R Bai, MT Cho, K Anyane-Yeboa, P Ahimaz, AL Wilson, ... Molecular Case Studies 1 (1), a000356, 2015 | 60 | 2015 |
| Impact of patient education videos on genetic counseling outcomes after exome sequencing R Hernan, MT Cho, AL Wilson, P Ahimaz, C Au, SM Berger, E Guzman, ... Patient education and counseling 103 (1), 127-135, 2020 | 24 | 2020 |
| Examining the psychosocial impact of genetic testing for cardiomyopathies J Wynn, DT Holland, J Duong, P Ahimaz, WK Chung Journal of Genetic Counseling 27 (4), 927-934, 2018 | 24 | 2018 |
| Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing J Wang, PR Ahimaz, S Hashemifar, J Khlevner, JA Picoraro, ... European Journal of Human Genetics 29 (1), 122-130, 2021 | 22 | 2021 |
| 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, G Yigit, TM Lee, ... Human genetics 139 (11), 1443-1454, 2020 | 21 | 2020 |
| COVID-19’s impact on genetics at one medical center in New York EM Pereira, WK Chung Genetics in Medicine 22 (9), 1467-1469, 2020 | 19 | 2020 |
| PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families A Guimier, MT Achleitner, A Moreau de Bellaing, M Edwards, ... Genetics in Medicine 23 (12), 2415-2425, 2021 | 16 | 2021 |
| A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function N Al-Deri, V Okur, P Ahimaz, M Milev, Z Valivullah, J Hagen, Y Sheng, ... Journal of medical genetics 58 (9), 592-601, 2021 | 13 | 2021 |
| Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature RH van Jaarsveld, J Reilly, MC Cornips, MA Hadders, E Agolini, ... Genetics in Medicine 25 (1), 49-62, 2023 | 11 | 2023 |
| COVID contingencies: Early epicenter experiences of different genetics clinics at a New York City institution inform emergency adaptation strategies P Ahimaz, J Giordano, M Disco, E Harrington, E Levinson, E Spiegel, ... Journal of Genetic Counseling 30 (4), 938-948, 2021 | 11 | 2021 |
| Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas G Zhong, P Ahimaz, NA Edwards, JJ Hagen, C Faure, Q Lu, P Kingma, ... Human Genetics and Genomics Advances 3 (3), 2022 | 8 | 2022 |
| Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID‐19 pandemic D Ma, PR Ahimaz, JM Mirocha, L Cook, JL Giordano, P Mohan, SA Cohen Journal of genetic counseling 30 (5), 1214-1223, 2021 | 8 | 2021 |
| Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays M Ganapathi, LS Matsuoka, M March, D Li, E Brokamp, S Benito-Sanz, ... European Journal of Human Genetics 31 (10), 1117-1124, 2023 | 4 | 2023 |
| Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome P Ahimaz, T Kramer, P Swaroop, MK Mitchell, R Hernan, ... American Journal of Medical Genetics Part A 188 (11), 3172-3183, 2022 | 4 | 2022 |
| Genetic counselors' utilization of ChatGPT in professional practice: A cross‐sectional study P Ahimaz, AL Bergner, ME Florido, N Harkavy, S Bhattacharyya American Journal of Medical Genetics Part A 194 (4), e63493, 2024 | 3 | 2024 |
| Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents P Ahimaz, M Sabatello, M Qian, A Wang, EM Miller, A Parrott, AK Lal, ... Circulation: Genomic and Precision Medicine 14 (4), e003189, 2021 | 3 | 2021 |
| Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas G Zhong, P Ahimaz, NA Edwards, JJ Hagen, C Faure, P Kingma, ... medRxiv, 2021.07. 18.21260699, 2021 | 3 | 2021 |
| Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine A Freiman, A Rekab, AL Bergner, EM Pereira, Y Lin, P Ahimaz American Journal of Medical Genetics Part A 194 (4), e63502, 2024 | 1 | 2024 |
| Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders F Chen, P Ahimaz, K Wang, WK Chung, C Ta, C Weng, C Liu Research Square, 2023 | 1 | 2023 |
