Thomas Jefferson University

Gerrye Mubungu

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. Makay P, Fasquelle C, Mubungu G, Ekolo E, Mupuala A, Fuanani P, Sonet I, Charloteaux B, Palmeira L, Gatot JS, Lukusa Tshilobo P, Bours V, Devriendt K, Lumaka A. Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature. Clin Dysmorphol. 2024 Dec 10. PMID: 39807610.
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    2. Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281. PMID: 38843839.
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    3. Lubala TK, Kayembe-Kitenge T, Mubungu G, Lumaka A, Kanteng G, Savage S, Luboya O, Hagerman R, Devriendt K, Lukusa-Tshilobo P. Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects. Eur J Med Genet. 2023 Sep; 66(9):104819. PMID: 37532084.
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    4. Mubungu G, Roelants M, Lumaka A, Makay P, Tshika D, Lubala T, Tshilobo Lukusa P, Devriendt K. Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements. Am J Med Genet A. 2022 10; 188(10):3063-3070. PMID: 35986581.
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    5. Lumaka A, Carstens N, Devriendt K, Krause A, Kulohoma B, Kumuthini J, Mubungu G, Mukisa J, Nel M, Olanrewaju TO, Lombard Z, Landour? G. Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group. Orphanet J Rare Dis. 2022 06 16; 17(1):230. PMID: 35710439.
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    6. Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing. Am J Med Genet A. 2022 09; 188(9):2825-2831. PMID: 35670385.
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    7. Abdi K, Abramsky R, Andescavage N, Bambi J, Basu S, Bearer C, Benner EJ, Biselele T, Bliznyuk N, Breckpot J, Carey G, Chao A, Christiansen LI, Comani S, Croce P, De Vos M, Dereymaeker A, Dubois L, Eisch AJ, Epstein A, Geva N, Geva Y, Gewillig M, Gillis S, Goldberg RN, Gram M, Gregory S, Guez-Barber D, Hayakawa M, Henriksen NL, Hermans T, Hershkovitz R, Holgersen K, Holmqvist B, Jain V, Jansen K, Kandula V, Kapse K, Kawaguchi M, Khair A, Khazaei M, Kidokoro H, Kiffer FC, Kisilewicz K, Kumai S, Lacaille H, Ley D, Limperopoulos C, Lindholm SEH, Lukusa P, Lundberg R, MacFarlane P, Matak P, Mavinga L, Mayer C, Mbayabo G, Mitsumatsu T, Mubungu G, Murnick J, Nakata T, Narita H, Nataraj P, Natsume J, Naulaers G, Nikam R, Ortenl?f N, Ottolini K, Pan X, Pankratova S, Pegram K, Penn AA, Pradhan S, Raeisi K, Rickman N, Rikard B, Rotem R, Sangild PT, Sato Y, Sawamura F, Shany E, Shelef I, Shiraki A, Smets L, Sura L, Suzui R, Suzuki T, Tady BP, Taga G, Tamburro G, Thewissen L, Thompson JW, Thymann T, Tokat C, Vacher CM, Valdes C, Vallius S, Vatolin S, Watanabe H, Weintraub AY, Weiss M, Yamamoto H, Yaniv SS, Younge N, Yun S, Zappasodi F. Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal. J Neonatal Perinatal Med. 2022; 15(2):411-426. PMID: 35431185.
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    8. Mizerero SA, Wilunda C, Musumari PM, Ono-Kihara M, Mubungu G, Kihara M, Nakayama T. The status of emergency obstetric and newborn care in post-conflict eastern DRC: a facility-level cross-sectional study. Confl Health. 2021 Aug 11; 15(1):61. PMID: 34380531.
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    9. Mubungu G, Makay P, Boujemla B, Yanda S, Posey JE, Lupski JR, Bours V, Lukusa P, Devriendt K, Lumaka A. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994. PMID: 33372375.
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    10. Mubungu G, Makay P, Lumaka A, Mvuama N, Tshika D, Tady BP, Biselele T, Roelants M, Tshilobo PL, Devriendt K. Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo. Am J Med Genet A. 2021 02; 185(2):453-460. PMID: 33247552.
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    11. Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A. Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). Am J Med Genet A. 2020 07; 182(7):1572-1575. PMID: 32406590.
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    12. Mubungu G, Lumaka A, Mvuama N, Tshika D, Makay P, Tshilobo PL, Devriendt K. Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies. Am J Med Genet A. 2020 04; 182(4):632-639. PMID: 31912658.
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    13. Mubungu G, Kadima B, Lumaka A, Mbayabo G, Lukusa Tshilobo P, Devriendt K. Congenital lateral abdominal wall defect in two Congolese children. Clin Dysmorphol. 2019 Jan; 28(1):50-52. PMID: 30138140.
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    14. Bunga PM, Nzita JB, Mubungu G, Mangaza SN, Seudjip NJ, Aloni MN. Clinical side effects after oral administration of palm oil and Alchornea cordifolia decoction in a child. Pediatr Med Chir. 2018 Sep 26; 40(2). PMID: 30256054.
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    15. Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909. PMID: 30088852.
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    16. Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, de Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, Devriendt K. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. Clin Genet. 2017 Aug; 92(2):166-171. PMID: 27925162.
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    17. Lumaka A, Lukoo R, Mubungu G, Lumbala P, Mbayabo G, Mupuala A, Tshilobo PL, Devriendt K. Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. Clin Case Rep. 2016 03; 4(3):294-7. PMID: 27014455.
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    18. Mubungu G, Lumaka A, Matondo R, Mbayabo G, Tuka D, Kayembe C, Mulowhe D, Molua A, Tady BP, Nkidiaka E, Bunga P, Lukusa Tshilobo P, Devriendt K. Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. Clin Case Rep. 2014 Dec; 2(6):250-3. PMID: 25548624.
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    19. Lumaka A, Mubungu G, Mukaba P, Mutantu P, Luyeye G, Corveleyn A, Tady BP, Lukusa Tshilobo P, Devriendt K. A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. Eur J Med Genet. 2014 Mar; 57(4):169-73. PMID: 24486773.
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    20. Lumaka A, Mubungu G, Nsibu C, Tady BP, Lukusa T, Devriendt K. X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa. Eur J Pediatr. 2012 Feb; 171(2):267-70. PMID: 21739173.
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