| A pooled testing strategy for identifying SARS-CoV-2 at low prevalence L Mutesa, P Ndishimye, Y Butera, J Souopgui, A Uwineza, R Rutayisire, ... Nature 589 (7841), 276-280, 2021 | 205 | 2021 |
| 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 | 139 | 2017 |
| 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 | 106 | 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 | 89 | 2017 |
| 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 | 49 | 2019 |
| Burden of post-traumatic stress disorder in postgenocide Rwandan population following exposure to 1994 genocide against the Tutsi: A meta-analysis C Musanabaganwa, S Jansen, S Fatumo, E Rutembesa, J Mutabaruka, ... Journal of Affective Disorders 275, 7-13, 2020 | 30 | 2020 |
| Adherence to highly active antiretroviral treatment in HIV-infected Rwandan women S Musiime, F Muhairwe, A Rutagengwa, E Mutimura, K Anastos, ... PloS one 6 (11), e27832, 2011 | 24 | 2011 |
| Rubinstein–Taybi syndrome in diverse populations C Tekendo‐Ngongang, B Owosela, N Fleischer, YA Addissie, B Malonga, ... American Journal of Medical Genetics Part A 182 (12), 2939-2950, 2020 | 23 | 2020 |
| Turner syndrome in diverse populations P Kruszka, YA Addissie, C Tekendo‐Ngongang, KL Jones, SK Savage, ... American Journal of Medical Genetics Part A 182 (2), 303-313, 2020 | 23 | 2020 |
| Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? P Kruszka, A Uwineza, L Mutesa, AF Martinez, Y Abe, EH Zackai, ... Molecular Genetics & Genomic Medicine 3 (5), 424-432, 2015 | 22 | 2015 |
| Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies A Uwineza, JH Caberg, J Hitayezu, AC Hellin, M Jamar, V Dideberg, ... BMC medical genetics 15, 1-10, 2014 | 21 | 2014 |
| Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome A Putoux, A Alqahtani, L Pinson, ADC Paulussen, J Michel, A Besson, ... Clinical genetics 90 (6), 550-555, 2016 | 19 | 2016 |
| VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report A Uwineza, JH Caberg, J Hitayezu, S Wenric, L Mutesa, Y Vial, S Drunat, ... European journal of medical genetics 62 (8), 103704, 2019 | 17 | 2019 |
| Pattern of congenital heart diseases in Rwandan children with genetic defects R Teteli, A Uwineza, Y Butera, J Hitayezu, S Murorunkwere, L Umurerwa, ... Pan African medical journal 19 (1), 2014 | 16 | 2014 |
| Poland’s syndrome: A case report J Gashegu, JC Byiringiro, M Nyundo, A Uwineza, L Mutesa East and Central African Journal of Surgery 14 (2), 112-114, 2009 | 16 | 2009 |
| Cytogenetic studies of Rwandan pediatric patients presenting with global developmental delay, intellectual disability and/or multiple congenital anomalies A Uwineza, J Hitayezu, M Jamar, JH Caberg, S Murorunkwere, N Janvier, ... Journal of Tropical Pediatrics 62 (1), 38-45, 2016 | 12 | 2016 |
| Leukocyte methylomic imprints of exposure to the genocide against the Tutsi in Rwanda: a pilot epigenome-wide analysis C Musanabaganwa, AH Wani, J Donglasan, S Fatumo, S Jansen, ... Epigenomics 14 (1), 11-25, 2022 | 11 | 2022 |
| Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients A Uwineza, J Hitayezu, S Murorunkwere, J Ndinkabandi, CK Kalala Malu, ... Journal of tropical pediatrics 60 (2), 112-117, 2014 | 10 | 2014 |
| Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. A Uwineza, G PIERQUIN, S GAILLEZ, M JAMAR, JH CABERG, V BOURS Genetic counseling 24 (2), 2013 | 10 | 2013 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv, 2023 | 9 | 2023 |
