Premala Muthukumarasamy
MEDICAL LECTURER
DEPARTMENT OF PAEDIATRICS
University of Malaya
Malaysia
Biography
Dr. Premala A/p Muthukumarasamy working in Department of Paediatrics, Faculty of Medicine at University of Malaya, 50603 Kuala Lumpur, MALAYSIA. She was awarded Selected Participant/International Scholar, National Human Genome Research Institute, Bethesda, Maryland , United States of America, 2016, (International) Asia- Pacific Society of Human Genetic Travel Award, Asia Pacific Society of Human Genetics, 2016, (International).
Research Interest
Paediatrics
Publications
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Maddirevula S, AlZahrani F, Anazi S, Almureikhi M, Ben-Omran T, Abdel-Salam GMH, Hashem M, Ibrahim N, Abdulwahab FM, Meriki N, Bashiri FA, Thong MK, Muthukumarasamy P, Azwani Mazlan R, Shaheen R, Alkuraya FS. (2017) GWAS signals revisited using human knockouts. Genet Med. 2017 Jun 22. doi: 10.1038/gim.2017.78. (ISI-Indexed)
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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. (2017) 22q11.2 deletion syndrome in diverse populations Am J Med Genet A. 2017 Apr;173(4):879-888 (ISI-Indexed)
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Rokicki D, Pajdowska M, Trubicka J, Thong MK; Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Hajdar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB (2017) 3-methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency Clinica Chimica Acta 2017; 471: 95-100 (ISI-Indexed)
