Thomas Jefferson University

Annette Uwineza

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records and Publicatio - Thomas Jefferson University
Address1025 Walnut Street
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Katrinli S, Wani AH, Maihofer AX, Ratanatharathorn A, Daskalakis NP, Montalvo-Ortiz J, N??ez-R?os DL, Zannas AS, Zhao X, Aiello AE, Ashley-Koch AE, Avetyan D, Baker DG, Beckham JC, Boks MP, Brick LA, Bromet E, Champagne FA, Chen CY, Dalvie S, Dennis MF, Fatumo S, Fortier C, Galea S, Garrett ME, Geuze E, Grant G, Hauser MA, Hayes JP, Hemmings SMJ, Huber BR, Jajoo A, Jansen S, Kessler RC, Kimbrel NA, King AP, Kleinman JE, Koen N, Koenen KC, Kuan PF, Liberzon I, Linnstaedt SD, Lori A, Luft BJ, Luykx JJ, Marx CE, McLean SA, Mehta D, Milberg W, Miller MW, Mufford MS, Musanabaganwa C, Mutabaruka J, Mutesa L, Nemeroff CB, Nugent NR, Orcutt HK, Qin XJ, Rauch SAM, Ressler KJ, Risbrough VB, Rutembesa E, Rutten BPF, Seedat S, Stein DJ, Stein MB, Toikumo S, Ursano RJ, Uwineza A, Verfaellie MH, Vermetten E, Vinkers CH, Ware EB, Wildman DE, Wolf EJ, Young RM, Zhao Y, van den Heuvel LL, Uddin M, Nievergelt CM, Smith AK, Logue MW. Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts. Genome Med. 2024 12 18; 16(1):147. PMID: 39696436.
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    2. Manirakiza AV, Baichoo S, Uwineza A, Dukundane D, Uwinkindi F, Ngendahayo E, Rubagumya F, Muhawenimana E, Nsabimana N, Nzeyimana I, Maniragaba T, Ntirenganya F, Rurangwa E, Mugenzi P, Mutamuliza J, Runanira D, Niyibizi BA, Rugengamanzi E, Besada J, Nielsen SM, Bucknor B, Nussbaum RL, Koeller D, Andrews C, Mutesa L, Fadelu T, Rebbeck TR. Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases. NPJ Genom Med. 2024 Nov 24; 9(1):61. PMID: 39582020.
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    3. Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwialkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, G?zel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Sch?neborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, H?ller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, Zarate YA, Conti MM, Karakaya M, Tung ML, Chandra B, Bouman A, Lumaka A, Wasif N, Shinawi M, Blackburn PR, Wang T, Niehues T, Schmidt A, Roth RR, Wieczorek D, Hu P, Waikel RL, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Kr?ger E, K?ry S, B?zieau S, Arlt A, Olinger E, Marbach F, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Kayserili H, Elcioglu N, Aykut A, Simsek-Kiper P?, B?gershausen N, Wollnik B, Bentzen HB, Kurth I, Netzer C, Jezela-Stanek A, Devriendt K, Gripp KW, M?cke M, Verloes A, Schaaf CP, Nell?ker C, Solomon BD, N?then MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. medRxiv. 2024 Oct 08. PMID: 37503210.
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    4. Hakizimana O, Hitayezu J, Uyisenga JP, Onohuean H, Palmeira L, Bours V, Alagbonsi AI, Uwineza A. Genetic etiology of autism spectrum disorder in the African population: a scoping review. Front Genet. 2024; 15:1431093. PMID: 39391062.
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    5. Katrinli S, Wani AH, Maihofer AX, Ratanatharathorn A, Daskalakis NP, Montalvo-Ortiz J, N??ez-R?os DL, Zannas AS, Zhao X, Aiello AE, Ashley-Koch AE, Avetyan D, Baker DG, Beckham JC, Boks MP, Brick LA, Bromet E, Champagne FA, Chen CY, Dalvie S, Dennis MF, Fatumo S, Fortier C, Galea S, Garrett ME, Geuze E, Grant G, Hayes JP, Hemmings SM, Huber BR, Jajoo A, Jansen S, Kessler RC, Kimbrel NA, King AP, Kleinman JE, Koen N, Koenen KC, Kuan PF, Liberzon I, Linnstaedt SD, Lori A, Luft BJ, Luykx JJ, Marx CE, McLean SA, Mehta D, Milberg W, Miller MW, Mufford MS, Musanabaganwa C, Mutabaruka J, Mutesa L, Nemeroff CB, Nugent NR, Orcutt HK, Qin XJ, Rauch SAM, Ressler KJ, Risbrough VB, Rutembesa E, Rutten BPF, Seedat S, Stein DJ, Stein MB, Toikumo S, Ursano RJ, Uwineza A, Verfaellie MH, Vermetten E, Vinkers CH, Ware EB, Wildman DE, Wolf EJ, Young RM, Zhao Y, van den Heuvel LL, Uddin M, Nievergelt CM, Smith AK, Logue MW. Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: A meta-analysis of 23 military and civilian cohorts. medRxiv. 2024 Jul 15. PMID: 39072012.
      Citations:    
    6. Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwialkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, G?zel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Sch?neborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, H?ller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, Zarate YA, Conti MM, Karakaya M, Tung ML, Chandra B, Bouman A, Lumaka A, Wasif N, Shinawi M, Blackburn PR, Wang T, Niehues T, Schmidt A, Roth RR, Wieczorek D, Hu P, Waikel RL, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Kr?ger E, K?ry S, B?zieau S, Arlt A, Olinger E, Marbach F, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Kayserili H, Elcioglu N, Aykut A, Simsek-Kiper P?, B?gershausen N, Wollnik B, Bentzen HB, Kurth I, Netzer C, Jezela-Stanek A, Devriendt K, Gripp KW, M?cke M, Verloes A, Schaaf CP, Nell?ker C, Solomon BD, N?then MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Res Sq. 2024 Jun 10. PMID: 38903062.
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    7. Kalinganire N, Uwineza A, Kyokunda L, Banura C. Oral-genital HPV infection transmission, concordance of HPV genotypes and genital lesions among spouses/ partners of patients diagnosed with HPV-related head and neck squamous cell carcinoma (HNSCC): a scoping review. Infect Agent Cancer. 2023 Oct 19; 18(1):63. PMID: 37858187.
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    8. Soremekun O, Musanabaganwa C, Uwineza A, Ardissino M, Rajasundaram S, Wani AH, Jansen S, Mutabaruka J, Rutembesa E, Soremekun C, Cheickna C, Wele M, Mugisha J, Nash O, Kinyanda E, Nitsch D, Fornage M, Chikowore T, Gill D, Wildman DE, Mutesa L, Uddin M, Fatumo S. A Mendelian randomization study of genetic liability to post-traumatic stress disorder and risk of ischemic stroke. Transl Psychiatry. 2023 07 01; 13(1):237. PMID: 37391434.
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    9. Manirakiza F, Rutaganda E, Yamada H, Iwashita Y, Rugwizangoga B, Seminega B, Dusabejambo V, Ntakirutimana G, Ruhangaza D, Uwineza A, Shinmura K, Sugimura H. Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer. Curr Issues Mol Biol. 2023 May 16; 45(5):4359-4374. PMID: 37232746.
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    10. Uwineza A, Nduwayezu R, Ngenzi JL, Mahboob U. Precision medicine education for medical residents in Rwanda. Med Educ. 2023 08; 57(8):775-776. PMID: 37114724.
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    11. Musanabaganwa C, Jansen S, Wani A, Rugamba A, Mutabaruka J, Rutembesa E, Uwineza A, Fatumo S, Hermans EJ, Souopgui J, Wildman DE, Uddin M, Roozendaal B, Njemini R, Mutesa L. Community engagement in epigenomic and neurocognitive research on post-traumatic stress disorder in Rwandans exposed to the 1994 genocide against the Tutsi: lessons learned. Epigenomics. 2022 08; 14(15):887-895. PMID: 36004496.
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    12. Nishimwe A, Ruranga C, Musanabaganwa C, Mugeni R, Semakula M, Nzabanita J, Kabano I, Uwimana A, Utumatwishima JN, Kabakambira JD, Uwineza A, Halvorsen L, Descamps F, Houghtaling J, Burke B, Bahati O, Bizimana C, Jansen S, Twizere C, Nkurikiyeyezu K, Birungi F, Nsanzimana S, Twagirumukiza M. Leveraging artificial intelligence and data science techniques in harmonizing, sharing, accessing and analyzing SARS-COV-2/COVID-19 data in Rwanda (LAISDAR Project): study design and rationale. BMC Med Inform Decis Mak. 2022 08 12; 22(1):214. PMID: 35962355.
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    13. Rugwizangoga B, Niyibizi JB, Ndayisaba MC, Musoni E, Manirakiza F, Uwineza A, Tuyisenge L, Nyundo M, Hategekimana T, Ntakirutimana G. Exploring Perceptions and Acceptance of Minimally Invasive Tissue Sampling among Bereaved Relatives and Health-Care Professionals in Rwanda. J Multidiscip Healthc. 2021; 14:3421-3427. PMID: 34938081.
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    14. Musanabaganwa C, Wani AH, Donglasan J, Fatumo S, Jansen S, Mutabaruka J, Rutembesa E, Uwineza A, Hermans EJ, Roozendaal B, Wildman DE, Mutesa L, Uddin M. Leukocyte methylomic imprints of exposure to the genocide against the Tutsi in Rwanda: a pilot epigenome-wide analysis. Epigenomics. 2022 01; 14(1):11-25. PMID: 34875875.
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    15. Ntalindwa T, Nduwingoma M, Karangwa E, Rashid Soron T, Uworwabayeho A, Uwineza A. Development of a Mobile App to Improve Numeracy Skills of Children With Autism Spectrum Disorder: Participatory Design and Usability Study. JMIR Pediatr Parent. 2021 Aug 31; 4(3):e21471. PMID: 34463629.
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    16. Mutesa L, Ndishimye P, Butera Y, Souopgui J, Uwineza A, Rutayisire R, Ndoricimpaye EL, Musoni E, Rujeni N, Nyatanyi T, Ntagwabira E, Semakula M, Musanabaganwa C, Nyamwasa D, Ndashimye M, Ujeneza E, Mwikarago IE, Muvunyi CM, Mazarati JB, Nsanzimana S, Turok N, Ndifon W. Author Correction: A pooled testing strategy for identifying SARS-CoV-2 at low prevalence. Nature. 2021 Jul; 595(7865):E3. PMID: 34135513.
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    17. Pierre G, Uwineza A, Dzinamarira T. Attendance to HIV Antiretroviral Collection Clinic Appointments During COVID-19 Lockdown. A Single Center Study in Kigali, Rwanda. AIDS Behav. 2020 12; 24(12):3299-3301. PMID: 32588258.
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    18. Mutesa L, Ndishimye P, Butera Y, Souopgui J, Uwineza A, Rutayisire R, Ndoricimpaye EL, Musoni E, Rujeni N, Nyatanyi T, Ntagwabira E, Semakula M, Musanabaganwa C, Nyamwasa D, Ndashimye M, Ujeneza E, Mwikarago IE, Muvunyi CM, Mazarati JB, Nsanzimana S, Turok N, Ndifon W. A pooled testing strategy for identifying SARS-CoV-2 at low prevalence. Nature. 2021 01; 589(7841):276-280. PMID: 33086375.
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    19. Nembaware V, Mazandu GK, Hotchkiss J, Safari Serufuri JM, Kent J, Kengne AP, Anie K, Munung NS, Bukini D, Bitoungui VJN, Munube D, Chirwa U, Chunda-Liyoka C, Jonathan A, Flor-Park MV, Esoh KK, Jonas M, Mnika K, Oosterwyk C, Masamu U, Morrice J, Uwineza A, Nguweneza A, Banda K, Nyanor I, Adjei DN, Siebu NE, Nkanyemka M, Kuona P, Tayo BO, Campbell A, Oron AP, Nnodu OE, Painstil V, Makani J, Mulder N, Wonkam A. The Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications. OMICS. 2020 10; 24(10):559-567. PMID: 33021900.
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    20. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950. PMID: 32985117.
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    21. Musanabaganwa C, Jansen S, Fatumo S, Rutembesa E, Mutabaruka J, Gishoma D, Uwineza A, Kayiteshonga Y, Alachkar A, Wildman D, Uddin M, Mutesa L. Burden of post-traumatic stress disorder in postgenocide Rwandan population following exposure to 1994 genocide against the Tutsi: A meta-analysis. J Affect Disord. 2020 10 01; 275:7-13. PMID: 32658827.
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    22. Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations. Am J Med Genet A. 2020 02; 182(2):303-313. PMID: 31854143.
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    23. Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. Eur J Med Genet. 2019 Aug; 62(8):103704. PMID: 31207318.
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    24. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158. PMID: 30614194.
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    25. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Ch?vez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations. Am J Med Genet A. 2017 Sep; 173(9):2323-2334. PMID: 28748642.
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    26. Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017 Apr; 173(4):879-888. PMID: 28328118.
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    27. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down syndrome in diverse populations. Am J Med Genet A. 2017 Jan; 173(1):42-53. PMID: 27991738.
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    28. Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clin Genet. 2016 12; 90(6):550-555. PMID: 27040866.
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    29. Uwineza A, Mutesa L. Medical genetics and genomic medicine in Rwanda. Mol Genet Genomic Med. 2015 Nov; 3(6):486-9. PMID: 26740940.
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    30. Uwineza A, Hitayezu J, Jamar M, Caberg JH, Murorunkwere S, Janvier N, Bours V, Mutesa L. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies. J Trop Pediatr. 2016 Feb; 62(1):38-45. PMID: 26507407.
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    31. Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M. Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? Mol Genet Genomic Med. 2015 Sep; 3(5):424-32. PMID: 26436108.
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    32. Teteli R, Uwineza A, Butera Y, Hitayezu J, Murorunkwere S, Umurerwa L, Ndinkabandi J, Hellin AC, Jamar M, Caberg JH, Muganga N, Mucumbitsi J, Rusingiza EK, Mutesa L. Pattern of congenital heart diseases in Rwandan children with genetic defects. Pan Afr Med J. 2014; 19:85. PMID: 25722758.
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    33. Uwineza A, Caberg JH, Hitayezu J, Hellin AC, Jamar M, Dideberg V, Rusingiza EK, Bours V, Mutesa L. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. BMC Med Genet. 2014 Jul 12; 15:79. PMID: 25016475.
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    34. Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients. J Trop Pediatr. 2014 Apr; 60(2):112-7. PMID: 24213305.
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    35. Uwineza A, Pierquin G, Gaillez S, Jamar M, Hellin AC, Caberg JH, Bours V. Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. Genet Couns. 2013; 24(2):193-200. PMID: 24032290.
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    36. Musiime S, Muhairwe F, Rutagengwa A, Mutimura E, Anastos K, Hoover DR, Qiuhu S, Munyazesa E, Emile I, Uwineza A, Cowan E. Adherence to highly active antiretroviral treatment in HIV-infected Rwandan women. PLoS One. 2011; 6(11):e27832. PMID: 22114706.
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