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Koay, Bee Tee and Chiow, Mei Yee and Ismail, Jamiila and Fahmy, Norfarhana Khairul and Yee, Seow Yeing and Mustafa, Norhazlin and Arip, Masita and Ripen, Adiratna Mat and Mohamad, Saharuddin (2022) Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing. Molecular Medicine Reports, 26 (6). ISSN 1791-2997, DOI https://doi.org/10.3892/mmr.2022.12882.
Chear, Chai Teng and El Farran, Bader Abdul Kader and Sham, Marina and Ramalingam, Kavetha and Noh, Lokman Mohd and Ismail, Intan Hakimah and Chiow, Mei Yee and Baharin, Mohd Farid and Ripen, Adiratna Mat and Mohamad, Saharuddin (2022) A Novel De Novo NFKBIA missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia. Genes, 13 (10). ISSN 2073-4425, DOI https://doi.org/10.3390/genes13101900.
Chear, Chai Teng and Ripen, Adiratna Mat and Mohamad, Saharuddin (2022) Deciphering the structural and functional impact of Q657L mutation in NLRC4 using computational methods. Molecular Simulation, 48 (14). pp. 1240-1255. ISSN 0892-7022, DOI https://doi.org/10.1080/08927022.2022.2080822.
Ripen, Adiratna Mat and Chiow, Mei Yee and Rama Rao, Prakash Rao and Mohamad, Saharuddin Bin (2021) Revealing chronic granulomatous disease in a patient with Williams-Beuren syndrome using whole exome sequencing. Frontiers in Immunology, 12. ISSN 1664-3224, DOI https://doi.org/10.3389/fimmu.2021.778133.
Ripen, Adiratna Mat and Chear, Chai Teng and Baharin, Mohd Farid and Nallusamy, Revathy and Chan, Kwai Cheng and Kassim, Asiah and Choo, Chong Ming and Wong, Ke Juin and Fong, Siew Moy and Tan, Kah Kee and Nachiappan, Jeyaseelan P. and Teo, Kai Ru and Chiow, Mei Yee and Hishamshah, Munirah and Ghani, Hamidah and Muralitharan, Rikeish R. and Bin Mohamad, Saharuddin (2021) A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity. Clinical and Experimental Immunology, 206 (2). pp. 119-128. ISSN 0009-9104, DOI https://doi.org/10.1111/cei.13626.
Chear, Chai Teng and Nallusamy, Revathy and Chan, Kwai Cheng and Mohd Tap, Ratna and Baharin, Mohd Farid and Syed Yahya, Sharifah Nurul Husna and Krishnan, Prasobhan Bala and Bin Mohamad, Saharuddin and Ripen, Adiratna Mat (2021) Atypical presentation of severe fungal necrotizing fasciitis in a patient with X-Linked Agammaglobulinemia. Journal of Clinical Immunology, 41 (6). pp. 1178-1186. ISSN 0271-9142, DOI https://doi.org/10.1007/s10875-021-01017-3.
Ruzman, Muhammad Adib and Ripen, Adiratna Mat and Mirsafian, Hoda and Ridzwan, Nor Farrah Wahidah and Merican, Amir Feisal and Mohamad, Saharuddin Bin (2021) Analysis of synonymous codon usage bias in human monocytes, B, and T lymphocytes based on transcriptome data. Gene Reports, 23. ISSN 2452-0144, DOI https://doi.org/10.1016/j.genrep.2021.101034.
Noh, Lokman Mohd and Latiff, Amir Hamzah Abdul and Ismail, Intan Hakimah and Noah, Rahim Md and Wahab, Asrul Abdul and Abd Hamid, Intan Juliana and Ripen, Adiratna Mat and Abdullah, Nasuruddin B. and Razali, Kamarul Azhar and Zainudin, Norzila and Bakon, Florence and Kok, Long Juan and Ali, Adli and Aziz, Bilkis Banu SAbd and Latif, Hasniah Abdul and Mohamad, Siti Mardhiana and Zainudeen, Zarina Thasneem and Hashim, Ilie Fadzilah and Sendut, Iean Hamzah and Nadarajaw, Thiyagar and Jamil, Faizah Mohamed and Ng, David C. E. and Abidin, Mohd Azri Zainal (2021) Clinical and demographic pattern of Chronic Granulomatous Disease (CGD) from a multicenter perspective: Malaysia's experience over 26 years. Allergy Asthma and Clinical Immunology, 17 (1). ISSN 1710-1492, DOI https://doi.org/10.1186/s13223-021-00551-4.
Chear, Chai Teng and Nallusamy, Revathy and Canna, Scott W. and Chan, Kwai Cheng and Baharin, Mohd Farid and Hishamshah, Munirah and Ghani, Hamidah and Ripen, Adiratna Mat and Bin Mohamad, Saharuddin (2020) A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation. CLINICAL IMMUNOLOGY, 211. ISSN 15216616, DOI https://doi.org/10.1016/j.clim.2019.108328.
Abu Bakar, Amirul Ridzuan and Ripen, Adiratna Mat and Merican, Amir Feisal and Mohamad, Saharuddin (2019) Enzymatic inhibitory activity of Ficus deltoidea leaf extract on matrix metalloproteinase-2, 8 and 9. Natural Product Research, 33 (12). pp. 1765-1768. ISSN 1478-6419, DOI https://doi.org/10.1080/14786419.2018.1434631.
