| Familial hypercholesterolemia E Youngblom, M Pariani, JW Knowles | 133 | 2016 |
| A 785 kb deletion of 3p14. 1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis MJ Pariani, A Spencer, JM Graham Jr, DL Rimoin European journal of medical genetics 52 (2-3), 123-127, 2009 | 117 | 2009 |
| Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A E Reinstein, S Frentz, T Morgan, S García-Miñaúr, RJ Leventer, ... European Journal of Human Genetics 21 (5), 494-502, 2013 | 111 | 2013 |
| Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study E Reinstein, M Pariani, S Bannykh, DL Rimoin, WI Schievink European Journal of Human Genetics 21 (4), 386-390, 2013 | 85 | 2013 |
| Finding missed cases of familial hypercholesterolemia in health systems using machine learning JM Banda, A Sarraju, F Abbasi, J Parizo, M Pariani, H Ison, E Briskin, ... NPJ digital medicine 2 (1), 23, 2019 | 80 | 2019 |
| Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience A Bland, EA Harrington, K Dunn, M Pariani, JCK Platt, ME Grove, ... Genetics in Medicine 20 (3), 369-373, 2018 | 51 | 2018 |
| Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature E Reinstein, M Pimentel, M Pariani, S Nemec, T Sokol, DL Rimoin European journal of medical genetics 55 (10), 548-551, 2012 | 46 | 2012 |
| Health-related quality of life in children and young adults with Marfan syndrome JC Handisides, D Hollenbeck-Pringle, K Uzark, FL Trachtenberg, ... The Journal of pediatrics 204, 250-255. e1, 2019 | 41 | 2019 |
| Genetic screening in the Persian Jewish community: A pilot study M Kaback, J Lopatequi, AR Portuges, C Quindipan, M Pariani, ... Genetics in Medicine 12 (10), 628-633, 2010 | 33 | 2010 |
| Understanding variants of uncertain significance in the era of multigene panels: through the eyes of the patient C Reuter, N Chun, M Pariani, A Hanson‐Kahn Journal of Genetic Counseling 28 (4), 878-886, 2019 | 28 | 2019 |
| Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII E Reinstein, M Pariani, RS Lachman, S Nemec, DL Rimoin American journal of medical genetics. Part A 158 (4), 938, 2012 | 20 | 2012 |
| GeneReviews E Youngblom, M Pariani, JW Knowles, MP Adam, HH Ardinger, RA Pagon, ... Seattle (WA): University of Washington, Seattle, 2014 | 15 | 2014 |
| Quantitative proteomics reveal lineage-specific protein profiles in iPSC-derived Marfan syndrome smooth muscle cells C Iosef, AJ Pedroza, JZ Cui, AR Dalal, M Arakawa, Y Tashima, TK Koyano, ... Scientific Reports 10 (1), 20392, 2020 | 14 | 2020 |
| Genetics and precision medicine: heritable thoracic aortic disease E Demo, C Rigelsky, AL Rideout, M Graf, M Pariani, E Regalado, ... Medical Clinics 103 (6), 1005-1019, 2019 | 13 | 2019 |
| Familial Hypercholesterolemia. 2014 [updated 2016] E Youngblom, M Pariani, JW Knowles GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle, 2020 | 6 | 2020 |
| Peruvian newborn male with 3p13 deletion syndrome encompassing the FOXP1 gene: review of the literature HH Abarca-Barriga, M Trubnykova, F Chavesta-Velásquez, ... Journal of Pediatric Genetics 9 (04), 270-278, 2020 | 5 | 2020 |
| Echocardiographic findings in patients with spontaneous CSF leak AL Pimienta, DL Rimoin, M Pariani, WI Schievink, E Reinstein Journal of neurology 261, 1957-1960, 2014 | 5 | 2014 |
| Prevalence and outcomes of primary left ventricular dysfunction in Marfan syndrome BS Connor, CA Algaze, A Narkevičiūtė, B Anguiano, M Pariani, YA Zarate, ... The American Journal of Cardiology 175, 119-126, 2022 | 2 | 2022 |
| Images in Vascular Medicine: Vascular complications in a young patient with vascular Ehlers–Danlos syndrome G Suresh Kumar, M Pariani, DH Liang, E Fukaya Vascular Medicine 28 (4), 368-370, 2023 | | 2023 |
| Complications of vascular Ehlers-Danlos syndrome E Fukaya, GS Kumar, M Pariani, DH Liang VASCULAR MEDICINE 27 (6), NP3-NP3, 2022 | | 2022 |
