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307 results on '"Thong, Meow-Keong"'

1. Comparison of the ABC and ACMG systems for variant classification

Author

Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I., Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., and Laner, Andreas

Published
2024
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2. Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families

Author

Kiat-Tee Tan, Benita, Tan, Su-Ming, Mien Tan, Veronique Kiak, Tan, Ern Yu, Lim, Geok Hoon, Khng, Alexis, Ch’ng, Gaik-Siew, Omar, Jamil, Yong, Chee-Meng, Aliyas, Ismail, Malik, Rozita Abdul, Subramaniam, Suguna, Sim, Wee-Wee, Lim, Chun Sen, Lee, Saw-Joo, Lim, Keng-Joo, Shafiee, Mohamad Nasir, Ismail, Fuad Ismail, Ismail, Mohd Pazudin, Mohamed Jamli, Mohamad Faiz, Kumarasamy, Suresh, Low, John S.H., Ahmad Mustafa, Ahmad Muzamir, Makanjang, Mary J., Taib, Shahila, Cheah, Nellie, Fong, Chee-Kin, Ho, Kean-Fatt, Deniel, Azura, Ang, Soo Fan, Ahmad Badruddin, Ahmad Radzi, Tho, Lye-Mun, Ho, Weang-Kee, Hassan, Nur Tiara, Yoon, Sook-Yee, Yang, Xin, Lim, Joanna M.C., Binte Ishak, Nur Diana, Ho, Peh Joo, Wijaya, Eldarina A., Ng, Patsy Pei-Sze, Luccarini, Craig, Allen, Jamie, Tai, Mei-Chee, Chiang, Jianbang, Zhang, Zewen, See, Mee-Hoong, Thong, Meow-Keong, Woo, Yin-Ling, Dunning, Alison M., Hartman, Mikael, Yip, Cheng-Har, Mohd Taib, Nur Aishah, Easton, Douglas F., Li, Jingmei, Ngeow, Joanne, Antoniou, Antonis C., and Teo, Soo-Hwang

Published
2024
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3. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

Author

Kumuthini, Judit, Zick, Brittany, Balasopoulou, Angeliki, Chalikiopoulou, Constantina, Dandara, Collet, El-Kamah, Ghada, Findley, Laura, Katsila, Theodora, Li, Rongling, Maceda, Ebner Bon, Monye, Henrietta, Rada, Gabriel, Thong, Meow-Keong, Wanigasekera, Thilina, Kennel, Hannah, Marimuthu, Veeramani, Williams, Marc S., Al-Mulla, Fahd, and Abramowicz, Marc

Published
2022
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4. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Author

Hsieh, Tzung-Chien, primary, Lesmann, Hellen, additional, Hustinx, Alexander, additional, Moosa, Shahida, additional, Marchi, Elaine, additional, Martin, Maria del Pilar Caro, additional, Abdelrazek, Ibrahim, additional, Pantel, Jean Tori, additional, Klinkhammer, Hannah, additional, Hagen, Merle ten, additional, Thong, Meow-Keong, additional, Mazlan, Rifhan Azwani Binti, additional, Tae, Sok Kun, additional, Kamphans, Tom, additional, Meiswinkel, Wolfgang, additional, Li, Jing-Mei, additional, Javanmardi, Behnam, additional, Knaus, Alexej, additional, Uwineza, Annette, additional, Knopp, Cordula, additional, Tkemaladze, Tinatin, additional, Elbracht, Miriam, additional, Mattern, Larissa, additional, Jamra, Rami Abou, additional, Velmans, Clara, additional, Strehlow, Vincent, additional, Jacob, Maureen, additional, Peron, Angela, additional, Dias, Cristina, additional, Nunes, Beatriz, additional, Vilella, Thainá, additional, Pinheiro, Isabel, additional, Kim, Chong, additional, Melaragno, Maria, additional, Weiland, Hannah, additional, Kaptain, Sophia, additional, Chwiałkowska, Karolina , additional, Kwasniewski, Miroslaw, additional, Saad, Ramy, additional, Wiethoff, Sarah, additional, Goel, Himanshu, additional, Tang, Clara, additional, Hau, Anna, additional, Barakat, Tahsin Stefan, additional, Panek, Przemysław, additional, Nabil, Amira, additional, Suh, Julia, additional, Braun, Frederik, additional, Gomy, Israel, additional, Averdunk, Luisa, additional, Ekure, Ekanem, additional, Bergant, Gaber, additional, Peterlin, Borut, additional, Graziano, Claudio, additional, Gaboon, Nagwa, additional, Fiesco-Roa, Moisés, additional, Spinelli, Alessandro, additional, Wilpert, Nina-Maria, additional, Phowthongkum, Prasit, additional, Güzel, Nergis, additional, Haack, Tobias, additional, Bitar, Rana, additional, Tzschach, Andreas, additional, Rodriguez-Palmero, Agusti, additional, Brunet, Theresa, additional, Rudnik-Schöneborn, Sabine, additional, Contreras-Capetillo, Silvina, additional, Oberlack, Ava, additional, Samango-Sprouse, Carole, additional, Sadeghin, Teresa, additional, Olaya, Margaret, additional, Platzer, Konrad, additional, Borovikov, Artem, additional, Schnabel, Franziska, additional, Heuft, Lara, additional, Herrmann, Vera, additional, Oegema, Renske, additional, Elkhateeb, Nour, additional, Kumar, Sheetal, additional, Komlosi, Katalin, additional, Mohamed, Khoushoua, additional, Kalantari, Silvia, additional, Sirchia, Fabio, additional, Martinez-Monseny, Antonio, additional, Höller, Matthias, additional, Mohamed, Amal, additional, Lasa-Aranzasti, Amaia, additional, Sayer, John, additional, Ehmke, Nadja, additional, Danyel, Magdalena, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Boschann, Felix, additional, Zhao, Max, additional, Adams, Ronja, additional, Einicke, Lara, additional, Horn, Denise, additional, Chew, Kee Seang, additional, Kam, Choy Chen, additional, Karakoyun, Miray, additional, Pode-Shakked, Ben, additional, Eliyahu, Aviva, additional, Rock, Rachel, additional, Carrion, Teresa, additional, Chorin, Odelia, additional, Zarate, Yuri, additional, Martinez, Marcello, additional, Karakaya, Mert, additional, Tung, Moon Ley, additional, Chandra, Bharatendu, additional, Lumaka, Aimé, additional, Shinawi, Marwan, additional, Blackburn, Patrick, additional, Wang, Tianyun, additional, Niehues, Tim, additional, Hu, Ping, additional, Waikel, Rebekah, additional, Hanchard, Suzanna Ledgister, additional, Elmakkawy, Gehad, additional, Safwat, Sylvia, additional, Ebstein, Frédéric, additional, Krüger, Elke, additional, Küry, Sébastien, additional, Bezieau, Stephane, additional, Arlt, Annabelle, additional, Marbach, Felix, additional, Li, Dong, additional, Dupuis, Lucie, additional, Mendoza-Londono, Roberto, additional, Houge, Sofia Douzgou, additional, Weis, Denisa, additional, Chung, Brian, additional, Mak, Christopher, additional, Elcioglu, Nursel, additional, Aykut, Ayca, additional, Şimşek-Kiper, Peli, additional, Bögershausen, Nina, additional, Wollnik, Bernd, additional, Bentzen, Heidi Beate, additional, Kurth, Ingo, additional, Netzer, Christian, additional, Jezela-Stanek, Aleksandra, additional, Devriendt, Koen, additional, Gripp, Karen, additional, Mücke, Martin, additional, Verloes, Alain, additional, Schaaf, Christian, additional, Nellåker, Christoffer, additional, Solomon, Benjamin, additional, Nöthen, Markus, additional, Abdalla, Ebtesam, additional, Lyon, Gholson, additional, Krawitz, Peter, additional, Kayserili, Hulya, additional, Toutouna, Louiza, additional, Schmidt, Axel, additional, Roth, Regina, additional, Wieczorek, Dagmar, additional, and Olinger, Eric, additional

Published
2024
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5. A comparative study of patients’ perceptions of genetic and genomic medicine services in California and Malaysia

Author

Qian, Emily, Thong, Meow-Keong, Flodman, Pamela, and Gargus, Jay

Subjects
Biological Sciences, Genetics, Health Services, Clinical Research, Generic health relevance, Good Health and Well Being, Genetic counseling, Genetics services, Malaysia, Provider knowledge, Rare disease, Southeast Asia
Abstract

In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed. This study examined perceived barriers experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. The study involved N = 108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers to access genetics-related healthcare. Results from this study provide evidence of similar perceived barriers, despite differences in the two populations. Participants selected the expansion of healthcare provider knowledge of rare diseases to be the most beneficial approach to overcome perceived barriers. In both locations, it was also noted that travel distance to clinic was not perceived as a large stress factor. Taking these observations together, a healthcare model with a central location of providers well-versed in medical genetics may be considered if further data support our findings. The data from this study support a need for improving healthcare provider knowledge of genetics. Future studies exploring how these perceived stress factors are impacting families as well as different methods of educating providers are suggested by findings from the study, as well as studies querying the opinions of those who are unable to access genetics services.

Published
2019

6. Cornelia de Lange syndrome in diverse populations

Author

Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences
Abstract

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Published
2019

7. Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.

Author

Wan, Puspa Melati, Ali, Affezah, Mognard, Elise, Jegathesan, Anasuya Jegathevi, Lee, Soon Li, Ganesan, Rajalakshmi, Noor, Mohd Ismail, Rochedy, Amandine, Valette, Marion, Tauber, Maïthé, Thong, Meow-Keong, and Poulain, Jean-Pierre

Subjects
CAREGIVERS, PRADER-Willi syndrome, FOOD consumption, SOCIALIZATION, CHILD nutrition, WEIGHT gain
Abstract

This study aims to explore the food management strategies among caregivers/family members of children with Prader–Willi Syndrome (PWS) using the lens of 'familialisation' of a health problem and the sociology of food socialization. Food intake among individuals with PWS is a main concern for parents, caregivers, and medical practitioners as it affects their physical, mental, and social well-being throughout their lives. Earlier studies on PWS and food intake centered around dietary management, dietary intake and growth, nutritional treatment and pharmacological approaches, nutritional phases, and weight gain. However, little has been done to understand the challenges of managing children with PWS from the sociological lens of food management strategies and socialization among families in Malaysia. This study is based on an investigation involving eight children with PWS and 46 family members and caregivers through lab observations and reflexive interviews. Ten food management strategies were identified that were adopted by the caregivers and families, which were influenced by cultural factors, family norms, and formal and informal support systems. The findings will influence future behavioral interventions to ensure the empowerment and well-being of individuals with PWS and their families. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families

Author

Ho, Weang-Kee, primary, Hassan, Nur Tiara, additional, Yoon, Sook-Yee, additional, Yang, Xin, additional, Lim, Joanna M.C., additional, Binte Ishak, Nur Diana, additional, Ho, Peh Joo, additional, Wijaya, Eldarina A., additional, Ng, Patsy Pei-Sze, additional, Luccarini, Craig, additional, Allen, Jamie, additional, Tai, Mei-Chee, additional, Chiang, Jianbang, additional, Zhang, Zewen, additional, See, Mee-Hoong, additional, Thong, Meow-Keong, additional, Woo, Yin-Ling, additional, Dunning, Alison M., additional, Hartman, Mikael, additional, Yip, Cheng-Har, additional, Mohd Taib, Nur Aishah, additional, Easton, Douglas F., additional, Li, Jingmei, additional, Ngeow, Joanne, additional, Antoniou, Antonis C., additional, Teo, Soo-Hwang, additional, Kiat-Tee Tan, Benita, additional, Tan, Su-Ming, additional, Mien Tan, Veronique Kiak, additional, Tan, Ern Yu, additional, Lim, Geok Hoon, additional, Khng, Alexis, additional, Ch’ng, Gaik-Siew, additional, Omar, Jamil, additional, Yong, Chee-Meng, additional, Aliyas, Ismail, additional, Malik, Rozita Abdul, additional, Subramaniam, Suguna, additional, Sim, Wee-Wee, additional, Lim, Chun Sen, additional, Lee, Saw-Joo, additional, Lim, Keng-Joo, additional, Shafiee, Mohamad Nasir, additional, Ismail, Fuad Ismail, additional, Ismail, Mohd Pazudin, additional, Mohamed Jamli, Mohamad Faiz, additional, Kumarasamy, Suresh, additional, Low, John S.H., additional, Ahmad Mustafa, Ahmad Muzamir, additional, Makanjang, Mary J., additional, Taib, Shahila, additional, Cheah, Nellie, additional, Fong, Chee-Kin, additional, Ho, Kean-Fatt, additional, Deniel, Azura, additional, Ang, Soo Fan, additional, Ahmad Badruddin, Ahmad Radzi, additional, and Tho, Lye-Mun, additional

Published
2024
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10. Morbidity and treatment costs of cystic fibrosis in a middle-income country

Author

Hng, Shih Ying, primary, Thinakaran, Agnes Suganthi, additional, Ooi, Chiou Jia, additional, Eg, Kah Peng, additional, Thong, Meow Keong, additional, Tae, Sok Kun, additional, Goh, Saw Huan, additional, Chew, Kee Seang, additional, Tan, Lay Teng, additional, Koh, Mia Tuang, additional, Chong, Li Ai, additional, Khalid, Farah, additional, Ng, Ruey Teng, additional, Nathan, Anna Marie, additional, and de Bruyne, Jessie Anne, additional

Published
2023
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14. The 1% gift to humanity: The Human Genome Project II

Author

Liu, Weibin, Li, Yan, Patrinos, George P., Xu, Shuhua, Thong, Meow-Keong, Chen, Zhengming, Crawley, Francis P., Li, Liming, Ekmekci, Perihan Elif, Drmanac, Radoje, Cheong, Weiyang, Benamouzig, Robert, Nguyen, Quan, Volchkov, Pavel, Reichardt, Juergen K. V., Carninci, Piero, Majumder, Partha, Jin, Xin, Church, George, Wang, Jian, and Xu, Xun

Published
2024
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16. A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia

Author

Laurino, Mercy Y., Leppig, Kathleen A., Abad, Peter James, Cham, Breana, Chu, Yoyo Wing Yiu, Kejriwal, Saahil, Lee, Juliana M. H., Sternen, Darci L., Thompson, Jennifer K., Burgess, Matthew J., Chien, Shu, Elackatt, Niby, Lim, Jiin Ying, Sura, Thanyachai, Faradz, Sultana, Padilla, Carmencita, Paz, Eva Cutiongco de-la, Nauphar, Donny, Nguyen, Khanh Ngoc, Zayts, Olya, Vu, Dung Chi, and Thong, Meow-Keong

Published
2017
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19. Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort

Author

Padmanabhan, Heamanthaa, primary, Mariapun, Shivaani, additional, Lee, Sheau‐Yee, additional, Hassan, Nur Tiara, additional, Lee, Daphne Shin‐Chi, additional, Meiser, Bettina, additional, Wong, Siu‐Wan, additional, Lee, Yong‐Quan, additional, Yip, Cheng‐Har, additional, Teo, Soo‐Hwang, additional, Thong, Meow‐Keong, additional, Taib, Nur Aishah Mohd, additional, and Yoon, Sook‐Yee, additional

Published
2022
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20. Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.

Author

Ismail, Azli, Ahid, Fadly, Thong, Meow-Keong, and Zakaria, Zubaidah

Subjects
CLUBFOOT, COMPARATIVE genomic hybridization, 22Q11 deletion syndrome, CHROMOSOMES, CHROMOSOME analysis, CONGENITAL heart disease, FAMILY history (Medicine)
Abstract

Background: The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings. However, the phenotype of patients with 18q- deletion syndrome can be highly variable, ranging from almost normal to severe malformations and intellectual disability, and normal cytogenetic findings are common, thus complicating the diagnosis. Interestingly, only few characteristic features of typical 18q- deletion syndrome were found in the patient, despite sharing the same critical region. To our knowledge, this is the first report of a Malaysian individual with 18q- terminal microdeletion diagnosed with microarray-based technology. Case presentation: Here we report a 16-year-old Malaysian Chinese boy, a product of a non-consanguineous marriage, who presented with intellectual disability, facial dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis, congenital heart defect, and behavioral problems. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XY G-banded karyotype. Array-based comparative genomic hybridization was performed using a commercially available 244 K 60-mer oligonucleotide microarray slide according to the manufacturer's protocol. This platform allows genome-wide survey and molecular profiling of genomic aberrations with an average resolution of about 10 kB. In addition, multiplex ligation-dependent probe amplification analysis was carried out using SALSA MLPA kit P320 Telomere-13 to confirm the array-based comparative genomic hybridization finding. Array-based comparative genomic hybridization analysis revealed a 7.3 MB terminal deletion involving chromosome band 18q22.3-qter. This finding was confirmed by multiplex ligation-dependent probe amplification, where a deletion of ten probes mapping to the 18q22.3-q23 region was detected, and further multiplex ligation-dependent probe amplification analysis on his parents showed the deletion to be de novo. Conclusion: The findings from this study expand the phenotypic spectrum of the 18q- deletion syndrome by presenting a variation of typical 18q- deletion syndrome features to the literature. In addition, this case report demonstrated the ability of the molecular karyotyping method, such as array-based comparative genomic hybridization, to assist in the diagnosis of cases with a highly variable phenotype and variable aberrations, such as 18q- deletion syndrome. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Cranial neural tube defect after trimethoprim exposure

Author

Abdullah, Nor Linda, Gunasekaran, Renuka, Mohd-Zin, Siti Waheeda, Lim, Bee-Hui, Maniam, Pramila, Mohd-Salleh, Anis Shuhada, Thong, Meow-Keong, Chik, Zamri, Nordin, Noreena, Omar, Zaliha, Engkasan, Julia Patrick, Ganesan, Dharmendra, Aiezzah, Zakaria Nurul, Ahmad-Annuar, Azlina, and Abdul-Aziz, Noraishah Mydin

Published
2018
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22. Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity

Author

Chan, Koon-Wing, primary, Wong, Chung-Yin, additional, Leung, Daniel, additional, Yang, Xingtian, additional, Fok, Susanna F. S., additional, Mak, Priscilla H. S., additional, Yao, Lei, additional, Ma, Wen, additional, Mao, Huawei, additional, Zhao, Xiaodong, additional, Liang, Weiling, additional, Singh, Surjit, additional, Barbouche, Mohamed-Ridha, additional, He, Jian-Xin, additional, Jiang, Li-Ping, additional, Liew, Woei-Kang, additional, Le, Minh Huong Thi, additional, Muktiarti, Dina, additional, Santos-Ocampo, Fatima Johanna, additional, Djidjik, Reda, additional, Belaid, Brahim, additional, Ismail, Intan Hakimah, additional, Abdul Latiff, Amir Hamzah, additional, Lee, Way Seah, additional, Chen, Tong-Xin, additional, Liu, Jinrong, additional, Jin, Runming, additional, Wang, Xiaochuan, additional, Chien, Yin Hsiu, additional, Yu, Hsin-Hui, additional, Raj, Dinesh, additional, Raj, Revathi, additional, Vaughan, Jenifer, additional, Urban, Michael, additional, Berg, Sylvia van den, additional, Eley, Brian, additional, Lee, Anselm Chi-Wai, additional, Isa, Mas Suhaila, additional, Ang, Elizabeth Y., additional, Lee, Bee Wah, additional, Yeoh, Allen Eng Juh, additional, Shek, Lynette P., additional, Quynh Le, Nguyen Ngoc, additional, Nguyen, Van Anh Thi, additional, Phan Nguyen Lien, Anh, additional, Capulong, Regina D., additional, Mallillin, Joanne Michelle, additional, Villanueva, Jose Carlo Miguel M., additional, Camonayan, Karol Anne B., additional, Vera, Michelle De, additional, Casis-Hao, Roxanne J., additional, Lobo, Rommel Crisenio M., additional, Foronda, Ruby, additional, Binas, Vicky Wee Eng, additional, Boushaki, Soraya, additional, Kechout, Nadia, additional, Phongsamart, Gun, additional, Wongwaree, Siriporn, additional, Jiratchaya, Chamnanrua, additional, Lao-Araya, Mongkol, additional, Trakultivakorn, Muthita, additional, Suratannon, Narissara, additional, Jirapongsananuruk, Orathai, additional, Chantveerawong, Teerapol, additional, Kamchaisatian, Wasu, additional, Chan, Lee Lee, additional, Koh, Mia Tuang, additional, Wong, Ke Juin, additional, Fong, Siew Moy, additional, Thong, Meow-Keong, additional, Latiff, Zarina Abdul, additional, Noh, Lokman Mohd, additional, Silva, Rajiva de, additional, Jouhadi, Zineb, additional, Al-Saad, Khulood, additional, Vignesh, Pandiarajan, additional, Jindal, Ankur Kumar, additional, Rawat, Amit, additional, Gupta, Anju, additional, Suri, Deepti, additional, Yang, Jing, additional, Au, Elaine Yuen-Ling, additional, Kwok, Janette Siu-Yin, additional, Chan, Siu-Yuen, additional, Hui, Wayland Yuk-Fun, additional, Chua, Gilbert T., additional, Duque, Jaime Rosa, additional, Cheong, Kai-Ning, additional, Chong, Patrick Chun Yin, additional, Ho, Marco Hok Kung, additional, Lee, Tsz-Leung, additional, Wong, Wilfred Hing-Sang, additional, Yang, Wanling, additional, Lee, Pamela P., additional, Tu, Wenwei, additional, Yang, Xi-Qiang, additional, and Lau, Yu Lung, additional

Published
2022
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24. Noonan syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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25. Cover Image, Volume 173A, Number 9, September 2017

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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26. Down syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, Joseph J., Lee, Ni-Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, Sampath C., Prabodha, Lahiru L. B., Richieri-Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow-Keong, Jones, Kelly L., Abdul-Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, and Muenke, Maximilian

Published
2017
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27. Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort.

Author

Padmanabhan, Heamanthaa, Mariapun, Shivaani, Lee, Sheau‐Yee, Hassan, Nur Tiara, Lee, Daphne Shin‐Chi, Meiser, Bettina, Wong, Siu‐Wan, Lee, Yong‐Quan, Yip, Cheng‐Har, Teo, Soo‐Hwang, Thong, Meow‐Keong, Taib, Nur Aishah Mohd, and Yoon, Sook‐Yee

Abstract

Cascade testing for families with BRCA pathogenic variants is important to identify relatives who are carriers. These relatives can benefit from appropriate risk management and preventative strategies arising from an inherited increased risk of breast, ovarian, prostate, melanoma, and pancreatic cancers. Cascade testing has the potential to enable cost‐effective cancer control even in low‐ and middle‐income settings, but few studies have hitherto evaluated the psychosocial impact of cascade testing in an Asian population, where the cultural and religious beliefs around inheritance and destiny have previously been shown to influence perception and attitudes toward screening. In this study, we evaluated the short‐ and long‐term psychosocial impact of genetic testing among unaffected relatives of probands identified through the Malaysian Breast Cancer Genetics Study and the Malaysian Ovarian Cancer Study, using validated questionnaires (Hospital Anxiety and Depression Scale and Cancer Worry Scale) administered at baseline, and 1‐month and 2‐year post‐disclosure of results. Of the 305 unaffected relatives from 98 independent families who were offered cascade testing, 256 (84%) completed predictive testing and family history of cancers was the only factor significantly associated with uptake of predictive testing. We found that the levels of anxiety, depression, and cancer worry among unaffected relatives decreased significantly after result disclosure and remained low 2‐year post‐result disclosure. Younger relatives and relatives of Malay descent had higher cancer worry at both baseline and after result disclosure compared to those of Chinese and Indian descent, whereas relatives of Indian descent and those with family history of cancers had higher anxiety and depression levels post‐result disclosure. Taken together, the results from this Asian cohort highlight the differences in psychosocial needs in different communities and inform the development of culture‐specific genetic counseling strategies. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country

Author

Lee, Yong‐Quan, primary, Yoon, Sook‐Yee, additional, Hassan, Tiara, additional, Padmanabhan, Heamanthaa, additional, Yip, Cheng‐Har, additional, Keng, Wee‐Teik, additional, Thong, Meow‐Keong, additional, Ahmad Annuar, Muhammad Azrif, additional, Mohd Taib, Nur Aishah, additional, and Teo, Soo‐Hwang, additional

Published
2022
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30. Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk

Author

Padmanabhan, Heamanthaa, primary, Hassan, Nur Tiara, additional, Wong, Siu-Wan, additional, Lee, Yong-Quan, additional, Lim, Joanna, additional, Hasan, Siti Norhidayu, additional, Yip, Cheng-Har, additional, Teo, Soo-Hwang, additional, Thong, Meow-Keong, additional, Mohd Taib, Nur Aishah, additional, and Yoon, Sook-Yee, additional

Published
2022
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35. COVID-19 vaccination for children in Malaysia - A position statement by the College of Paediatrics, Academy of Medicine of Malaysia.

Author

CHEAH Fook Choe, THONG Meow Keong, ZULKIFLI Ismail, ZILFALIL Alwi, Latiff, AMIR HAMZAH Abdul, CHAN Wai Kiong, Patrick, Erwin KHOO Jiayuan, and Hairi, NORAN Naqiah

Abstract

The availability of COVID-19 vaccines and mass vaccination programmes in adults have significantly reduced the case attack rates and disease burden. COVID-19 vaccination successfully decreases the population at risk of infection, allowing for the safer re-opening of economies and reducing the pandemic's crippling impact on healthcare systems. However, the rapidly mutating severe acute respiratory syndrome-coronavirus-2 poses challenges in diminishing vaccine-induced immunity and vaccinating a significant proportion of adults to achieve herd immunity. These challenges necessitated adolescent vaccination. With the recent emergence of the highly transmissible Omicron variant and the increasing COVID-19 hospitalisation rates of children below 12 years old, many countries opted to also vaccinate younger children. Phase II/III clinical trials and real-world experience demonstrate that COVID-19 vaccinations are effective and safe for younger children and adolescents. Before Malaysia introduced its national COVID-19 vaccination programme for children 5-11 years old (which ran between March and June 2022), an expert advisory statement was issued by the College of Paediatrics, Academy of Medicine of Malaysia, to highlight the benefits and importance of vaccinating children. The advisory statement included clarifications about vaccine-related side effects such as post-vaccination myocarditis and allergic reactions to encourage informed decision making by healthcare providers and parents. This paper, which was prepared based on the critical appraisal of the current evidence, evaluation of the international experiences and the positive impact of COVID-19 vaccination in children, collectively sums up the rationale to support and ensure the success of the nationwide vaccination programme for children. Hence, the College recommends COVID-19 vaccination for children in Malaysia. [ABSTRACT FROM AUTHOR]

Published
2022

39. Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes

Author

Yoon, Sook-Yee, primary, Wong, Siu Wan, additional, Lim, Joanna, additional, Ahmad, Syuhada, additional, Mariapun, Shivaani, additional, Padmanabhan, Heamanthaa, additional, Hassan, Nur Tiara, additional, Lau, Shao Yan, additional, Ch'ng, Gaik-Siew, additional, Haniffa, Muzhirah, additional, Ong, Winnie P, additional, Rethanavelu, Kavitha, additional, Moey, Lip Hen, additional, Keng, Wee Teik, additional, Omar, Jamil, additional, Mohd Abas, Mohd Norazam, additional, Yong, Chee Meng, additional, Ramasamy, Vickneswaren, additional, Md Noor, Mohd Rushdan, additional, Aliyas, Ismail, additional, Lim, Michael C K, additional, Suberamaniam, Anuradha, additional, Mat Adenan, Noor Azmi, additional, Ahmad, Zatul Akmar, additional, Ho, Gwo Fuang, additional, Abdul Malik, Rozita, additional, Subramaniam, Suguna, additional, Khoo, Boom Ping, additional, Raja, Arivendran, additional, Chin, Yeung Sing, additional, Sim, Wee Wee, additional, Teh, Beng Hock, additional, Kho, Swee Kiong, additional, Ong, Eunice S E, additional, Voon, Pei Jye, additional, Ismail, Ghazali, additional, Lee, Chui Ling, additional, Abdullah, Badrul Zaman, additional, Loo, Kwong Sheng, additional, Lim, Chun Sen, additional, Lee, Saw Joo, additional, Lim, Keng Joo Lim, additional, Shafiee, Mohamad Nasir, additional, Ismail, Fuad, additional, Latiff, Zarina Abdul, additional, Ismail, Mohd Pazudin, additional, Mohamed Jamli, Mohamad Faiz, additional, Kumarasamy, Suresh, additional, Leong, Kin Wah, additional, Low, John, additional, Md Yusof, Mastura, additional, Ahmad Mustafa, Ahmad Muzamir, additional, Mat Ali, Nor Huda, additional, Makanjang, Mary, additional, Tayib, Shahila, additional, Cheah, Nellie, additional, Lim, Boon Kiong, additional, Fong, Chee Kin, additional, Foo, Yoke Ching, additional, Mellor Abdullah, Matin, additional, Tan, Teck Sin, additional, Chow, Doris S Y, additional, Ho, Kean Fatt, additional, Raman, Rakesh, additional, Radzi, Ahmad, additional, Deniel, Azura, additional, Teoh, Daren C Y, additional, Ang, Soo Fan, additional, Joseph, Joseph K, additional, Ng, Paul Hock Oon, additional, Tho, Lye-Mun, additional, Ahmad, Azura Rozila, additional, Muin, Ileena, additional, Bleiker, Eveline, additional, George, Angela, additional, Thong, Meow-Keong, additional, Woo, Yin Ling, additional, and Teo, Soo Hwang, additional

Published
2021
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40. Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients

Author

Ambrose, Kathlin, Ishak, Taufik, Lian, Lay-Hoong, Goh, Khean-Jin, Wong, Kum-Thong, Ahmad-Annuar, Azlina, and Thong, Meow-Keong

Subjects
Life Technologies Corp., MicroRNA, Myotonic dystrophy -- Genetic aspects, Skeletal muscle, Genes, Transcription (Genetics), Biotechnology industries -- International economic relations, Epidemiology, Health
Abstract

Byline: Kathlin. Ambrose, Taufik. Ishak, Lay-Hoong. Lian, Khean-Jin. Goh, Kum-Thong. Wong, Azlina. Ahmad-Annuar, Meow-Keong. Thong Introduction: MicroRNAs (miRNAs) are short RNA molecules of approximately 22 nucleotides that function as post-transcriptional [...]

Published
2017

44. Rubinstein–Taybi syndrome in diverse populations

Author

Tekendo‐Ngongang, Cedrik, primary, Owosela, Babajide, additional, Fleischer, Nicole, additional, Addissie, Yonit A., additional, Malonga, Bryan, additional, Badoe, Ebenezer, additional, Gupta, Neerja, additional, Moresco, Angélica, additional, Huckstadt, Victoria, additional, Ashaat, Engy A., additional, Hussen, Dalia Farouk, additional, Luk, Ho‐Ming, additional, Lo, Ivan F. M., additional, Hon‐Yin Chung, Brian, additional, Fung, Jasmine L. F., additional, Moretti‐Ferreira, Danilo, additional, Batista, Letícia Cassimiro, additional, Lotz‐Esquivel, Stephanie, additional, Saborio‐Rocafort, Manuel, additional, Badilla‐Porras, Ramses, additional, Penon Portmann, Monica, additional, Jones, Kelly L., additional, Abdul‐Rahman, Omar A., additional, Uwineza, Annette, additional, Prijoles, Eloise J., additional, Ifeorah, Ifeanyi Kanayo, additional, Llamos Paneque, Arianne, additional, Sirisena, Nirmala D., additional, Dowsett, Leah, additional, Lee, Sansan, additional, Cappuccio, Gerarda, additional, Kitchin, Carolyn Sian, additional, Diaz‐Kuan, Alicia, additional, Thong, Meow‐Keong, additional, Obregon, María Gabriela, additional, Mutesa, Leon, additional, Dissanayake, Vajira H. W., additional, El Ruby, Mona O., additional, Brunetti‐Pierri, Nicola, additional, Ekure, Ekanem Nsikak, additional, Stevenson, Roger E., additional, Muenke, Maximilian, additional, and Kruszka, Paul, additional

Published
2020
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