| Neurotrophins can enhance spiral ganglion cell survival after inner hair cell loss JM Miller, DH Chi, LJ O'Keeffe, P Kruszka, Y Raphael, RA Altschuler International Journal of Developmental Neuroscience 15 (4-5), 631-643, 1997 | 358 | 1997 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 150 | 2017 |
| Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism S Gupta, S Nakabo, LP Blanco, LJ O’Neil, G Wigerblad, RR Goel, P Mistry, ... Proceedings of the National Academy of Sciences 117 (28), 16481-16491, 2020 | 141 | 2020 |
| Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific C Tekendo‐Ngongang, B Owosela, M Muenke, P Kruszka American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 141 | 2020 |
| Evaluation of acute pelvic pain in women PS Kruszka, SJ Kruszka American family physician 82 (2), 141-147, 2010 | 137 | 2010 |
| Diagnosis and management of Sjögren syndrome P Kruszka, RJ O’BRIAN American family physician 79 (6), 465-470, 2009 | 137 | 2009 |
| Down syndrome in diverse populations P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ... American Journal of Medical Genetics Part A 173 (1), 42-53, 2017 | 108 | 2017 |
| Noonan syndrome in diverse populations P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ... American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017 | 98 | 2017 |
| Williams–Beuren syndrome in diverse populations P Kruszka, AR Porras, DH de Souza, A Moresco, V Huckstadt, AD Gill, ... American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018 | 86 | 2018 |
| Syndromes associated with holoprosencephaly P Kruszka, M Muenke American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018 | 81 | 2018 |
| The landscape of reported VUS in multi-gene panel and genomic testing: time for a change HL Rehm, JT Alaimo, S Aradhya, P Bayrak-Toydemir, H Best, R Brandon, ... Genetics in Medicine 25 (12), 100947, 2023 | 64 | 2023 |
| Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 61 | 2019 |
| Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature YA Addissie, U Kotecha, RA Hart, AF Martinez, P Kruszka, M Muenke American Journal of Medical Genetics Part A 167 (11), 2657-2663, 2015 | 57 | 2015 |
| Muenke syndrome: An international multicenter natural history study P Kruszka, YA Addissie, CMP Yarnell, DW Hadley, MJ Guillen Sacoto, ... American journal of medical genetics Part A 170 (4), 918-929, 2016 | 56 | 2016 |
| Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ... Journal of medical genetics 52 (2), 104-110, 2015 | 53 | 2015 |
| Renal growth in isolated methylmalonic acidemia PS Kruszka, I Manoli, JL Sloan, JB Kopp, CP Venditti Genetics in Medicine 15 (12), 990-996, 2013 | 53 | 2013 |
| The human inactive X chromosome modulates expression of the active X chromosome AK San Roman, AK Godfrey, H Skaletsky, DW Bellott, AF Groff, HL Harris, ... Cell genomics 3 (2), 2023 | 52 | 2023 |
| Cornelia de Lange syndrome in diverse populations L Dowsett, AR Porras, P Kruszka, B Davis, T Hu, E Honey, E Badoe, ... American Journal of Medical Genetics Part A 179 (2), 150-158, 2019 | 50 | 2019 |
| Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome S Hong, P Hu, J Marino, SB Hufnagel, RJ Hopkin, A Toromanović, ... Human Molecular Genetics 25 (10), 1912-1922, 2016 | 48 | 2016 |
| De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ... The American Journal of Human Genetics 107 (1), 164-172, 2020 | 44 | 2020 |