Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 601 | 2019 |
Whole-exome sequencing in adults with chronic kidney disease: a pilot study S Lata, M Marasa, Y Li, DA Fasel, E Groopman, V Jobanputra, H Rasouly, ... Annals of internal medicine 168 (2), 100-109, 2018 | 188 | 2018 |
Genomic medicine for kidney disease EE Groopman, HM Rasouly, AG Gharavi Nature Reviews Nephrology 14 (2), 83-104, 2018 | 138 | 2018 |
Lower urinary tract development and disease HM Rasouly, W Lu Wiley Interdisciplinary Reviews: Systems Biology and Medicine 5 (3), 307-342, 2013 | 124 | 2013 |
Exome-wide association study identifies GREB1L mutations in congenital kidney malformations S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, ... The American Journal of Human Genetics 101 (5), 789-802, 2017 | 97 | 2017 |
Harmonizing clinical sequencing and interpretation for the eMERGE III network H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ... The American Journal of Human Genetics 105 (3), 588-605, 2019 | 93 | 2019 |
Frequency of genomic secondary findings among 21,915 eMERGE network participants AS Gordon, H Zouk, E Venner, CM Eng, BH Funke, LM Amendola, ... Genetics in Medicine 22 (9), 1470-1477, 2020 | 78 | 2020 |
Inhibitory effects of Robo2 on nephrin: a crosstalk between positive and negative signals regulating podocyte structure X Fan, Q Li, A Pisarek-Horowitz, HM Rasouly, X Wang, RG Bonegio, ... Cell reports 2 (1), 52-61, 2012 | 69 | 2012 |
The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing HM Rasouly, EE Groopman, R Heyman-Kantor, DA Fasel, A Mitrotti, ... Annals of internal medicine 170 (1), 11-21, 2019 | 67 | 2019 |
Ethical considerations related to return of results from genomic medicine projects: the eMERGE network (phase III) experience R Fossey, D Kochan, E Winkler, JE Pacyna, J Olson, S Thibodeau, ... Journal of personalized medicine 8 (1), 2, 2018 | 56 | 2018 |
Returning results in the genomic era: initial experiences of the eMERGE Network GL Wiesner, A Kulchak Rahm, P Appelbaum, S Aufox, ST Bland, CL Blout, ... Journal of Personalized Medicine 10 (2), 30, 2020 | 50 | 2020 |
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk, AJ Mallett, RS Parekh, ... Kidney international 101 (6), 1126-1141, 2022 | 44 | 2022 |
Longitudinal outcomes of COVID-19–associated collapsing glomerulopathy and other podocytopathies S Kudose, D Santoriello, AS Bomback, M Sekulic, I Batal, MB Stokes, ... Journal of the American Society of Nephrology 32 (11), 2958-2969, 2021 | 43 | 2021 |
SLIT2/ROBO2 signaling pathway inhibits nonmuscle myosin IIA activity and destabilizes kidney podocyte adhesion X Fan, H Yang, S Kumar, KE Tumelty, A Pisarek-Horowitz, HM Rasouly, ... JCI insight 1 (19), 2016 | 40 | 2016 |
Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non‐fatal myocardial infarction V Meiner, Y Friedlander, H Milo, N Sharon, L Ben‐Avi, S Shpitzen, ... Annals of human genetics 72 (6), 732-741, 2008 | 38 | 2008 |
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects RP Dodiuk‐Gad, E Cohen‐Barak, M Khayat, H Milo, L Amariglio‐Diskin, ... British Journal of Dermatology 174 (3), 562-568, 2016 | 36 | 2016 |
Pilot study of return of genetic results to patients in adult nephrology JG Nestor, M Marasa, H Milo-Rasouly, EE Groopman, SA Husain, ... Clinical Journal of the American Society of Nephrology 15 (5), 651-664, 2020 | 32 | 2020 |
Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 27 | 2020 |
Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease HM Rasouly, S Kumar, S Chan, A Pisarek-Horowitz, R Sharma, QJ Xi, ... Kidney international 90 (6), 1262-1273, 2016 | 19 | 2016 |
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing H Milo Rasouly, N Cuneo, M Marasa, N DeMaria, D Chatterjee, ... Journal of Genetic Counseling 30 (3), 742-754, 2021 | 18 | 2021 |