Dr. Leon  Mutesa
My Social Links

Dr. Leon Mutesa

Professor
University of Rwanda


Highest Degree
PostDoc. in Human Genetics from University of Erlangen-Nuremberg, Germany

Share this Profile

Area of Interest:

Biomedical Sciences
100%
Human Biology
62%
Human Genetics
90%
Clinical Genetics
75%
Medical Sciences
55%

Research Publications in Numbers

Books
0
Chapters
0
Articles
0
Abstracts
0

Selected Publications

  1. Uwineza, A., J.H. Caberg, J. Hitayezu, S. Wenric and L. Mutesa et al., 2019. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. Eur. J. Med. Genet., Vol. 62, No. 8. 10.1016/j.ejmg.2019.103704.
    CrossRef  |  Direct Link  |  
  2. Njume, F.N., S.M. Ghogomu, R.A. Shey, L.O.T. Gainkam and P. Poelvoorde et al., 2019. Identification and characterization of the Onchocerca volvulus excretory secretory product Ov28CRP, a putative GM2 activator protein. PLoS Neglected Trop. Dis., Vol. 13, No. 7. 10.1371/journal.pntd.0007591.
    CrossRef  |  Direct Link  |  
  3. Dowsett, L., A.R. Porras, P. Kruszka, B. Davis and T. Hu et al., 2019. Cornelia de Lange syndrome in diverse populations. Am. J. Med. Genet. Part A, 179: 150-158.
    CrossRef  |  Direct Link  |  
  4. Asingizwe, D., P.M. Poortvliet, C.J. Koenraadt, A.J. van Vliet, C.M. Ingabire, L. Mutesa and C. Leeuwis, 2019. Role of individual perceptions in the consistent use of malaria preventive measures: Mixed methods evidence from rural Rwanda. Malaria J., Vol. 18, No. 1. 10.1186/s12936-019-2904-x.
    CrossRef  |  Direct Link  |  
  5. Adedimeji, A., J.D. Sinayobye, B. Asiimwe-Kateera, J. Chaudhry and L. Buzinge et al., 2019. Social contexts as mediator of risk behaviors in Rwandan men who have sex with men (MSM): Implications for HIV and STI transmission. PLoS One, Vol. 14, No. 1. 10.1371/journal.pone.0211099.
    CrossRef  |  
  6. Shey, R.A., S.M. Ghogomu, F.N. Njume, L.O.T. Gainkam and P. Poelvoorde et al., 2018. Prediction and validation of the structural features of Ov58GPCR, an immunogenic determinant of Onchocerca volvulus. PloS One, Vol. 13, No. 9. 10.1371/journal.pone.0202915.
    CrossRef  |  Direct Link  |  
  7. Rudahindwa, S., L. Mutesa, E. Rutembesa, J. Mutabaruka and A. Qu et al., 2018. Transgenerational effects of the genocide against the Tutsi in Rwanda: A post-traumatic stress disorder symptom domain analysis. AAS Open Res., Vol. 1. 10.12688/aasopenres.12848.1.
    CrossRef  |  Direct Link  |  
  8. Pfeiffer, J.R., L. Mutesa and M. Uddin, 2018. Traumatic stress epigenetics. Curr. Behav. Neurosci. Rep., 5: 81-93.
    CrossRef  |  Direct Link  |  
  9. Mushumba, H., B. Franke, S. Rulisa, J.D. Gasanabo, L. Mutesa and K. Puschel, 2018. Knowledge transfer for forensic science development-a cooperation between the Hamburg Institute of Legal Medicine and the University of Rwanda (UR), Rwanda National Police (RNP) and the National Commission for the fight against Genocide (CNLG). Rwanda Med. J., 75: 1-3.
    Direct Link  |  
  10. Murindahabi, M.M., D. Asingizwe, P.M. Poortvliet, A.J. van Vliet and E. Hakizimana et al., 2018. A citizen science approach for malaria mosquito surveillance and control in Rwanda. NJAS-Wageningen J. Life Sci., 86: 101-110.
    CrossRef  |  Direct Link  |  
  11. Murenzi, G., J.C. Dusingize, T. Rurangwa, J.D.A. Sinayobye and A. Munyaneza et al., 2018. Protocol for the study of cervical cancer screening technologies in HIV-infected women living in Rwanda. BMJ Open, Vol. 8, No. 8. 10.1136/bmjopen-2017-020432.
    CrossRef  |  Direct Link  |  
  12. Mpatswenumugabo, B., E. Bukara, M. Semakula, A. Nzayisenga and R. Mukezamfura et al., 2018. A case report of anterior cruciate ligament and posterolateral corner reconstruction using tendon graft preserved in situ. Int. J. Surg. Case Rep., 44: 42-46.
    CrossRef  |  Direct Link  |  
  13. Lubala, T.K., A. Lumaka, G. Kanteng, L. Mutesa and O. Mukuku et al., 2018. Fragile X checklists: A meta‐analysis and development of a simplified universal clinical checklist. Mol. Genet. Genomic Med., 6: 526-532.
    CrossRef  |  Direct Link  |  
  14. Asingizwe, D., P.M. Poortvliet, C.J. Koenraadt, A.J. van Vliet and M.M. Murindahabi et al., 2018. Applying citizen science for malaria prevention in Rwanda: An integrated conceptual framework. NJAS-Wageningen J. Life Sci., 86: 111-122.
    CrossRef  |  Direct Link  |  
  15. Abejirinde, I.O.O., C.M. Ingabire, M. van Vugt, L. Mutesa, B. van den Borne and J.O. Busari, 2018. Qualitative analysis of the health system effects of a community-based malaria elimination program in Rwanda. Res. Rep. Trop. Med., 9: 63-75.
    CrossRef  |  Direct Link  |  
  16. Nyamwasa, D., H. Mushumba, F. Sinayobye, J. Byukusenge, L. Mutesa and K. Pueschel, 2017. Pantoea species-induced peritonitis: A post-mortem case-report from Rwanda. Rwanda Med. J., 74: 20-21.
  17. Mucumbitsi, J., B. Bulwer, L. Mutesa, M. Semakula and E. Rusingiza et al., 2017. Prevalence of rheumatic valvular heart disease in Rwandan school children: Echocardiographic evaluation using the world heart federation criteria. Cardiovasc. J. Afr., 28: 285-292.
    CrossRef  |  Direct Link  |  
  18. Lumaka, A., N. Cosemans, A.L. Mampasi, G. Mubungu and N. Mvuama et al., 2017. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. Clin. Genet., 92: 166-171.
    CrossRef  |  Direct Link  |  
  19. Kruszka, P., Y.A. Addissie, D.E. McGinn, A.R. Porras and E. Biggs et al., 2017. 22q11. 2 deletion syndrome in diverse populations. Am. J. Med. Genet. Part A, 173: 879-888.
    CrossRef  |  Direct Link  |  
  20. Kruszka, P., A.R. Porras, Y.A. Addissie, A. Moresco and S. Medrano et al., 2017. Noonan syndrome in diverse populations. Am. J. Med. Genet. Part A, 173: 2323-2334.
    CrossRef  |  Direct Link  |  
  21. Kruszka, P., A.R. Porras, A.K. Sobering, F.A. Ikolo and S. La Qua et al., 2017. Down syndrome in diverse populations. Am. J. Med. Genet. Part A, 173: 42-53.
    CrossRef  |  Direct Link  |  
  22. Ingabire, C.M., E. Hakizimana, A. Rulisa, F. Kateera and B. van den Borne et al., 2017. Community-based biological control of malaria mosquitoes using Bacillus thuringiensis var. israelensis (Bti) in Rwanda: Community awareness, acceptance and participation. Malaria J., Vol. 16, No. 1. 10.1186/s12936-017-2046-y.
    CrossRef  |  Direct Link  |  
  23. Uwineza, A., J. Hitayezu, M. Jamar, J.H. Caberg and S. Murorunkwere et al., 2016. Cytogenetic studies of Rwandan pediatric patients presenting global developmental delay and intellectual disability: Need of prenatal diagnosis implementation. J. Trop. Ped., 62: 38-45.
    CrossRef  |  PubMed  |  Direct Link  |  
  24. Rusatira, J.C., B. Tomaszewski, V. Dusabejambo, V. Ndayiragije and S. Gonsalves et al., 2016. Enabling access to medical and health education in Rwanda using mobile technology: Needs assessment for the development of mobile medical educator apps. JMIR Med. Educ., Vol. 2, No. 1. 10.2196/mededu.5336.
    CrossRef  |  PubMed  |  Direct Link  |  
  25. Mushumba, H., O. Krebs, E. Jopp-van Well, D. Nzasabimana and C. Augustin et al., 2016. Forensic anthropological examination and DNA analysis in the identification of human remains in Rwanda. Rwanda Med. J., 73: 17-23.
  26. Mushumba, H., F.X. Hakizimana, T.B. Murangira, D. Nyamwasa and A.S. Schroeder et al., 2016. Trends and patterns of suspected infanticide cases autopsied at the Kacyiru hospital, Rwanda: A case report. Rwanda Med. J., 73: 21-23.
  27. Mushumba, H., F.X. Hakizimana, D. Nyamwasa, A.S. Schroeder and J. Sperhake et al., 2016. Death Due to pneumonia in young adults: A post-mortem experience from the department of legal medicine, Kacyiru Hospital, Kigali-Rwanda. Rwanda Med. J., 73: 19-21.
  28. Kateera, F., S.L. Nsobya, S. Tukwasibwe, P.F. Mens and E. Hakizimana et al., 2016. Malaria case clinical profiles and Plasmodium falciparum parasite genetic diversity: A cross sectional survey at two sites of different malaria transmission intensities in Rwanda. Malaria J., Vol. 15, No. 1. 10.1186/s12936-016-1287-5.
    CrossRef  |  Direct Link  |  
  29. Kateera, F., S.L. Nsobya, S. Tukwasibwe, E. Hakizimana and L. Mutesa et al., 2016. Molecular surveillance of Plasmodium falciparum drug resistance markers reveals partial recovery of chloroquine susceptibility but sustained sulfadoxine-pyrimethamine resistance at two sites of different malaria transmission intensities in Rwanda. Acta Trop., 164: 329-336.
    CrossRef  |  Direct Link  |  
  30. Ingabire, M.C., F. Kateera, E. Hakizimana, A. Rulisa and B. van den Borne et al., 2016. Stakeholder engagement in community-based malaria studies in a defined setting in the Eastern Province, Rwanda. Mediterranean J. Social Sci., 7: 188-196.
    CrossRef  |  Direct Link  |  
  31. Ingabire, C.M., F. Kateera, E. Hakizimana, A. Rulisa and C. Muvunyi et al., 2016. Determinants of prompt and adequate care among presumed malaria cases in a community in eastern Rwanda: A cross sectional study. Malaria J., Vol. 15, No. 1. 10.1186/s12936-016-1285-7.
    CrossRef  |  Direct Link  |  
  32. Ingabire, C.M., E. Hakizimana, F. Kateera, A. Rulisa and B. van den Borne et al., 2016. Using an intervention mapping approach for planning, implementing and assessing a community-led project towards malaria elimination in the Eastern Province of Rwanda. Malaria J., Vol. 15, No. 1. 10.1186/s12936-016-1645-3.
    CrossRef  |  Direct Link  |  
  33. Hitayezu, J., V. Ndahindwa, S. Murorunkwere, J. Ndinkabandi, A. Uwineza and L. Mutesa, 2016. Advanced maternal age, also an important risk factor for down syndrome in African black population. A nine-year experience in Rwanda and burden outcome. JSM Genet. Genomics, Vol. 3. .
    Direct Link  |  
  34. Blanke-Roeser, C., H. Mushumba, J. Sperhake, A. Heinemann and P. Kyamanywa et al., 2016. Indoor air pollution as a risk factor for fatal anthracosis and copd in sub-Saharan Africa-The case of an unidentified Rwandan male about 50 years. Rwanda Med. J., 73: 27-30.
    Direct Link  |  
  35. Uwineza, A. and L. Mutesa, 2015. Medical genetics and genomic medicine in Rwanda. Mol. Genet. Genomic Med., 3: 486-489.
    CrossRef  |  Direct Link  |  
  36. Uwimana, J., P. Ndishimye, E. Bizimana, J. Byiringiro and L. Mutesa, 2015. Rotavirus gastroenteritis surveillance and prevalence assessment among under five children in Rwanda. Rwanda Med. J., 72: 17-21.
  37. Thomson, D.R., A.B. Bah, W. Rubanzana and L. Mutesa, 2015. Correlates of intimate partner violence against women during a time of rapid social transition in Rwanda: Analysis of the 2005 and 2010 demographic and health surveys. BMC Women's Health, Vol. 15. 10.1186/s12905-015-0257-3.
    CrossRef  |  Direct Link  |  
  38. Mutimura, E., D. Addison, K. Anastos, D. Hoover and J.C. Dusingize et al., 2015. Trends and determinants of CD4+ cell count at ART initiation after changes in national ART guidelines: Data from five HIV clinics in Kigali, Rwanda. AIDS., 29: 67-76.
    PubMed  |  Direct Link  |  
  39. Mushumba, H., D. Froeb, W. Mucyo, F.X. Hakizimana and D. Nyamwasa et al., 2015. The burden of stroke in young black population and the role of post-mortem evaluation in increasing awareness and prevention. Rwanda Med. J., 72: 26-28.
  40. Kruszka, P., A. Uwineza, L. Mutesa, A.F. Martinez and A. Yu et al., 2015. For the NISC comparative sequencing Program, Hong S.K., 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., 3: 424-432.
    CrossRef  |  PubMed  |  Direct Link  |  
  41. Kateera, F., T.D. Walker, L. Mutesa, V. Mutabazi and E. Musabeyesu et al., 2015. Hepatitis B and C prevalence among health care workers in a tertiary hospital in Rwanda. Trans. R. Soc. Trop. Med. Hyg., 109: 203-208.
    Direct Link  |  
  42. Kateera, F., P.F. Mens, E. Hakizimana, C. Ingabire and L. Muragijemariya et al., 2015. Malaria parasite carriage and risk determinants in a rural population: A malariometric survey in Rwanda. Malaria J., Vol. 14. 10.1186/s12936-014-0534-x.
    CrossRef  |  PubMed  |  Direct Link  |  
  43. Kateera, F., M.C. Ingabire, E. Hakizimana, P. Kalinda and P.F. Mens et al., 2015. Malaria, anaemia and under-nutrition: Three frequently co-existing conditions among preschool-aged children in rural Rwanda. Mal. J., Vol. 14. 10.1186/s12936-015-0973-z.
    CrossRef  |  PubMed  |  
  44. Kateera, F., M.C. Ingabire, E. Hakizimana, A. Rulisa and P. Karinda et al., 2015. Long-lasting insecticidal net source, ownership and use in the context of universal coverage: A household survey in eastern Rwanda. Malaria J., Vol. 14. 10.1186/s12936-015-0915-9.
    CrossRef  |  PubMed  |  
  45. Ingabire, M.C., A. Rulisa, L. Van Kempen, C. Muvunyi and S.C.J.M. Koenraadt et al., 2015. Factors impeding the acceptability and use of malaria preventive measures: Implications for malaria elimination in eastern Rwanda. Malaria J., Vol. 14. 10.1186/s12936-015-0659-6.
    CrossRef  |  Direct Link  |  
  46. Uwineza, A., J.H. Caberg, J. Hitayezu, A.C. Hellin and M. Jamar et al., 2014. Array-CGH analysis in Rwandan patients presenting development delay/Intellectual disability with multiple congenital anomalies. BMC Med. Genet., Vol. 15. 10.1186/1471-2350-15-79.
    CrossRef  |  
  47. Uwineza, A., J. Hitayezu, S. Murorunkwere, J. Ndinkabandi and C.K.K. Malu et al., 2014. Genetic diagnosis of duchenne muscular dystropathy using multiplex ligation-dependent probe amplification in Rwandan patients. J. Trop. Ped., 60: 112-117.
    CrossRef  |  PubMed  |  Direct Link  |  
  48. Twizerimana, A.P., J. Mwatha, J.P. Musabyimana, E. Kayigi, J.D. Harerimana, S. Karanja and L. Mutesa, 2014. Immunological profiles in HIV positive patients following HAART initiation in Kigali, Rwanda. East Afr. Med. J., 91: 261-266.
    PubMed  |  Direct Link  |  
  49. Teteli, R., A. Uwineza, Y. Butera, J. Hitayezu and S. Murorunkwere et al., 2014. Pattern of congenital heart diseases in Rwandan pediatric patients with genetic defects. Pan Afr. Med. J., Vol. 19. 10.11604/pamj.2014.19.85.3428.
    CrossRef  |  PubMed  |  
  50. Perroud, N., E. Rutembesa, A. Giaccobino-Paoloni, J. Mutabaruka, L. Mutesa, A. Malafosse and F. Karege, 2014. The Tutsi genocide and transgenerational transmission of maternal stress: Epigenetic and biology of the HPA axis. World J. Biol. Psychiat., 15: 334-345.
    Direct Link  |  
  51. Irakiza, JJ. and L. Mutesa, 2014. Descriptive case study of care, surveillance and prevention of birth defects in Rwandan children. Rwanda Med. J., 71: 14-18.
  52. Ingabire, SP. and L. Mutesa, 2014. Factors determining disclosure by parents among children living with HIV/AIDS attending the center of excellence in Kigali University teaching hospital. Rwanda Med. J., 71: 5-11.
  53. Ingabire, MC., J. Alaii, E. Hakizimana, F. Kateera and D. Muhimuzi et al., 2014. Community mobilization for malaria elimination: Application of an open space methodology in Ruhuha sector, Rwanda. Malaria J. Vol. 13. .
    Direct Link  |  
  54. Ndahimana, E., A. Gothot, C. Gerard, F. Senyana, S. R’zik, O. Mukabayire and L. Mutesa, 2013. Risk of red blood cell alloimmunization in Rwanda: Assessment of pretransfusion compatibility techniques used in district hospitals. East Afr. Med. J., 90: 124-129.
    Direct Link  |  
  55. Muvunyi, M.C., F. Masaisa, C. Bayingana, L. Mutesa and A. Musemakweri, 2013. Antimicrobial resistance and extended-spectrum β-lactamase (ESBL) producing clinical isolates from urinary tract infection at two teaching hospitals in Rwanda. Rwanda J., Series F: Health Sci., 1: 3-16.
  56. Musanabaganwa, C., F. Byiringiro, L. Mutesa and A. Nassir, 2013. UCP2 interactome as targets for novel anti-diabetic drugs. Rwanda Med. J., 70: 6-11.
  57. Hitayezu, J., A. Uwineza, S. Murorunkwere, J. Ndinkabandi and L. Mutesa, 2013. A case of Rwandan patient with ring chromosome 15 syndrome. Rwanda Med. J., 70: 27-28.
  58. Harelimana, J.D., J. Byiringiro, C. Mukaremera, G. Ntamukunzi, A. Attahiru, C.M. Muvunyi and L. Mutesa, 2013. Sputum concentration improves diagnosis of pulmonary tuberculosis cases in children at a tertiary care institution in Rwanda. Rwanda Med. J., 70: 15-18.
  59. Semanyenzi, E.S., A. Uwineza, J. Hitayezu, J.J. Nshizirungu and L. Mutesa, 2012. unusual case of Fraser syndrome. Rwanda Med. J., 69: 45-47.
  60. Nyundo, M., A. Uwineza, J. Gashegu, J.C. Byiringiro, W. Wuyts and L. Mutesa, 2012. Clinical and genetic diagnosis of multiple osteochondroma in Rwandan patients. Rwanda Med. J., 69: 40-43.
  61. Nyundo, M., A. Jahn, K. Kayondo, F. Ntirenganya and K. Muzungu et al., 2012. Successful separation of conjoined pygopagus twins in African environment with limited resources. Rwanda Med. J., 69: 44-47.
  62. Ngendahayo, E., P. Kyamanywa, L. Mutesa and J. Gashegu, 2012. Prune-Belly syndrome: Case report. East Cent. Afr. J. Surg., 17: 88-91.
  63. Mutesa, L., M. Jamar, A.C. Hellin, G. Pierquin and V. Bours, 2012. A new 48,XXYY/47,XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. Indian J. Hum. Genet., 18: 319-322.
    PubMed  |  Direct Link  |  
  64. Mutabazi, V., J.P. Bitega, M.L. Ngeruka, C. Karema, L. Mutesa and A. Binagwaho, 2012. The potential of scaling up non surgical circumcision in Rwanda. Rwanda Med. J., 69: 4-5.
  65. Manirafasha, A., A. Muvunyi, J. Hitayezu, A. Uwineza and L. Mutesa, 2012. An unusual case of giant fronto-occipital encephalocele. Rwanda Med. J., 69: 48-49.
  66. Hategekimana, C., S. Nshuti, J. Mucumbitsi, C. Muvunyi, L. Mutesa and E. Rusingiza, 2012. Management challenges of pediatric infective endocarditis at tertiary level in Rwanda. Rwanda Med. J., 69: 31-39.
  67. Muvunyi, C.M., F. Masaisa, C. Bayingana, L. Mutesa, A. Musemakweri, G. Muhirwa and GW. Claeys, 2011. Decreased susceptibility to commonly used antimicrobial agents in bacterial pathogens isolated from urinary tract infections in Rwanda: Need for new antimicrobial guidelines. Am. J. Trop. Med. Hyg., 84: 923-928.
    PubMed  |  
  68. Saiba, S.E. and L. Mutesa, 2010. A case of orbital and facial cellulitis. Rwanda Med. J., 68: 69-70.
  69. Nshuti, S., C. Hategekimana, A. Uwineza, J. Hitayezu, J. Mucumbitsi, E.K. Rusingiza and L. Mutesa, 2010. Patients with Noonan syndrome phenotype: spectrum of clinical features and congenital heart defect. Rwanda Med. J., 68: 26-31.
  70. Muvunyi, C.M., F. Masaisa, C. Rutanga, C. Bayingana, G. Muhirwa and L. Mutesa, 2010. Challenges in detection of sputum smear-positive for tuberculosis in Rwanda: Public health implications. Rwanda Med. J., 68: 39-43.
  71. Muvunyi, C.M., F. Masaisa, C. Bayingana, A. Musemakweri, L. Mutesa and T.C. Hernandez, 2010. Prevalence and diagnostic aspects of sputum smear positive tuberculosis cases at a tertiary care institution in Rwanda. Afr. J. Microbiol. Res., 4: 88-91.
    Direct Link  |  
  72. Mutesa, l., A. Uwineza, A.C. Hellin, M.C. Muvunyi and J.F. Vanbellinghen et al., 2010. A survey of genetic diseases in Rwanda. Rwanda. Med. J., 68: 5-17.
  73. Hitayezu, J., J. Gashegu, J. Vyankandondera and L. Mutesa, 2010. An unusual case of conjoined twins. Rwanda Med. J., 68: 48-51.
  74. Denayer, E., K. Devriendt, T. de Ravel, F. Inge and Y. Sznajer et al., 2010. spectrum in children with noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer, 49: 242-252.
    Direct Link  |  
  75. A. Uwineza, A. Musemakweri, C.M. Muvunyi, M.C. Gasingirwa and C. Muhorakeye et al., 2010. First case of a 45,X/46,XY mosaic turner in a phenotypic female rwandan patient. Rwanda. Med. J., 69: 35-38.
  76. Mutesa, L., J.F. Vanbellinghen, A.C. Hellin, K. Segers, M. Jamar, G. Pierquin and V. Bours, 2009. Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis. Genet. Couns., 20: 9-16.
    PubMed  |  Direct Link  |  
  77. Mutesa, L., A.K. Azad, C. Verhaeghe, K. Segers and J.F. Vanbellinghen et al., 2009. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: Identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest, 135: 1233-1242.
    CrossRef  |  Direct Link  |  
  78. Mutesa, L. and V. Bours, 2009. Diagnostic challenges of cystic fibrosis in patients of African origin. J. Trop. Pediatr., 55: 282-286.
    Direct Link  |  
  79. Gashegu, J., J.C. Byiringiro, M. Nyundo, A. Uwineza and L. Mutesa, 2009. Poland's syndrome: A case report. East Cent. Afr. J. Surg., 14: 112-114.
  80. Mutesa, L., G. Pierquin, N. Janin, K. Segers, C. Thomee, M. Provenzi and V. Bours, 2008. Germline PTPN11 missense mutation in a Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genet. Cytogenet., 182: 40-42.
    Direct Link  |  
  81. Mutesa, L., G. Pierquin, K. Segers, J.F. Vanbellinghen, L. Gahimbare and V. Bours, 2008. Spinocerebellar ataxia type 2: Clinical features and genetic analysis. J. Trop. Pediatr., 54: 350-352.
    CrossRef  |  PubMed  |  Direct Link  |  
  82. Mutesa, L., N. Muganga, W. Lissens, F. Boemer, R. Schoos, G. Pierquin and V. Bours, 2007. Molecular analysis in two siblings African patients with severe form of hunter syndrome: Identification of a novel (p. Y54X) nonsense mutation. J. Trop. Pediatr., 53: 434-437.
    Direct Link  |  
  83. Mutesa, L., N. Muganga, G. Pierquin, L. Ngendahayo, E.K. Rusingiza, V. Bours and L. Koulischer, 2007. Clinical and cytogenetic profile of Down syndrome in Rwandan Patients: Interest prenatal diagnosis. Rwanda Med. J., 66: 5-10.
  84. Mutesa, L., G. Pierquin, N. Cwiny-Ay, P. Buzizi and V. Bours, 2007. Hutchinson-Gilford progeria syndrome: Clinical and molecular analysis in an African patient. Rev. Med. Liège, 62: 155-158.
    Direct Link  |  
  85. Mutesa, L., G. Pierquin and N. Muganga, 2007. Severe form of mucopolysaccharidosis type II. Rwanda Med. J., 2: 34-37.
  86. Mutesa, L., F. Boemer, L. Ngendahayo, S. Rulisa and K.E. Rusingiza et al., 2007. Neonatal screening for sickle cell disease in Central Africa: A study of 1825 newborns with a new ELISA-test. J. Med. Screen., 14: 113-116.
    CrossRef  |  Direct Link  |  
  87. Mutesa, L., A.C. Hellin, M. Jamar, G. Pierquin, V. Bours and A. Verloes, 2007. Precocious puberty associated with partial trisomy 18q and monosomy 11q. Genet. Couns., 18: 201-207.
    PubMed  |  Direct Link  |