Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective

Authors: Balakrishnan, Iswaree D., Bylstra, Yasmin, Fong, Nikki, Chai, Nellie B.S., Kam, Sylvia, Khoo, Chun Yuan, Chan, Laura L.H., Koh, Angela S., Tang, Hak Chiaw, Lim, Eric, Tan, Ju Le, Lim, Weng Khong, Pua, Chee Jian, Sim, David, Cook, Stuart A., Tan, Ee Shien, Yeo, Khung Keong, Jamuar, Saumya S.

Source: In Genetics in Medicine Open 2024 2

Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context

Authors: Fong, Nikki, Lim, Jiin Ying, Cham, Breana, Kam, Sylvia, Goh, Chew Yin, Wei, Heming, Tan, Yuen Ming, Law, Hai Yang, Lim, Weng Khong, Tan, Ee Shien

Source: Annals of the Academy of Medicine, Singapore. 51(12):798-800

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN631641203&indx=1&recIds=ETOCRN631641203

National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore

Authors: Zhang, Stella ^a, Tan, Guek Peng ^{b, c}, Peh, Soh Lan ^b, Ang, Swee Lim ^b, Kam, Sylvia ^{d, e}, Lim, Weng Khong ^{e, f, g, h}, Ting, Teck Wah ^{a, d, e}, Lai, Angeline ^d, Tan, Ee Shien ^{a, d, e}, Jamuar, Saumya Shekhar ^{a, d, e, f, ∗∗}, Law, Hai Yang ^{b, c, d, ∗}, Ng, Ivy ^{a, b, c, d, ∗∗∗}

Source: In The Lancet Regional Health - Western Pacific February 2025 55

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

Authors: Wei, Heming, Tan, Ee‐Shien, Jamuar, Saumya, Lai, Angeline H. M., Ng, Ivy, Tan, Ene‐Choo

Source: American journal of medical genetics.Part A. 182(10):2461-2465

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108036579.0x000001&indx=1&recIds=ETOCvdc_100108036579.0x000001

Accelerating access to human genomics for public health: perspectives from the Western Pacific region

Authors: Park, Kidong, Chen, Mengji, Malijan, Greco Mark, Song, Dayoung, Ross, Anna Laura, Ambrosino, Elena, Lopez-Correa, Catalina, Abdullah, Syahril, Asuncion, Pio Justin, Boughtwood, Tiffany, Brown, Alex, Cutiongco de la Paz, Eva Maria, Goranitis, Ilias, Wati Haji Abdul Hamid, Mas Rina, Hudson, Maui, Karlsson, Erik, Kato, Kazuto, Kim, Hannah, Kohno, Takashi, Kong, Sun-Young, Lee, Beom Hee, Anh Luong, Thi Lan, Mizusawa, Hidehiro, Ngah, Nor Fariza, Ngeow, Joanne, Padilla, Carmencita, Park, Hyun-Young, Park, Mi-Hyun, Pomat, William, Quan, Jianchao, Ranganathan, Shoba, Ripen, Adiratna Mat, Tan, Daniel SW., Tan, Ee Shien, Waldegrave, Stephen J.K., Zilfalil, Bin Alwi

Source: In The Lancet Regional Health - Western Pacific December 2024 53

Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase

Authors: Zimran, Ari, Gonzalez-Rodriguez, Derlis Emilio, Abrahamov, Aya, Cooper, Peter A., Varughese, Sheeba, Giraldo, Pilar, Petakov, Milan, Tan, Ee Shien, Chertkoff, Raul

Source: In Blood Cells, Molecules and Diseases February 2018 68:163-172

Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.

Authors: Caeser, Rebecca, Chiang, Jianbang, Tan, Ee Shien, Tai, E Shyong, Ngeow, Joanne

Source: Familial Cancer; Jun2024, Vol. 23 Issue 2, p133-140, 8p

Subject Terms: GENETIC testing, GENOMICS, LONG-term health care, INDIVIDUALIZED medicine, RELATIVES, CANCER diagnosis

Geographic Terms: SINGAPORE

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Authors: Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger

Source: In EBioMedicine March 2016 5:211-216

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

Authors: Westrip, Christian A.E., Paul, Franziska, Al-Murshedi, Fathiya, Qaitoon, Hashim, Cham, Breana, Fletcher, Sally C., Hendrix, Eline, Boora, Uncaar, Ng, Alvin Yu Jin, Bonnard, Carine, Najafi, Maryam, Alawbathani, Salem, Lambert, Imelda, Fox, Gabriel, Venkatesh, Byrappa, Bertoli-Avella, Aida, Tan, Ee Shien, Al-Maawali, Almundher, Reversade, Bruno, Coleman, Mathew L.

Source: In Genetics in Medicine September 2023 25(9)

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase

Authors: Pastores, Gregory M., Petakov, Milan, Giraldo, Pilar, Rosenbaum, Hanna, Szer, Jeffrey, Deegan, Patrick B., Amato, Dominick J., Mengel, Eugen, Tan, Ee Shien, Chertkoff, Raul, Brill-Almon, Einat, Zimran, Ari

Source: In Blood Cells, Molecules and Diseases December 2014 53(4):253-260

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Authors: Izumi, Kosuke, Brett, Maggie, Nishi, Eriko, Drunat, Séverine, Tan, Ee-Shien, Fujiki, Katsunori, Lebon, Sophie, Cham, Breana, Masuda, Koji, Arakawa, Michiko, Jacquinet, Adeline, Yamazumi, Yusuke, Chen, Shu-Ting, Verloes, Alain, Okada, Yuki, Katou, Yuki, Nakamura, Tomohiko, Akiyama, Tetsu, Gressens, Pierre, Foo, Roger, Passemard, Sandrine, Tan, Ene-Choo, El Ghouzzi, Vincent, Shirahige, Katsuhiko

Source: American journal of human genetics. 99(2):451-459

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100065319040.0x000001&indx=1&recIds=ETOCvdc_100065319040.0x000001

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.

Authors: Leow, Esther Huimin, Chong, Siew Le, Tan, Ee Shien, Koh, Ai Ling, Cham, Breana Wen Min, Yap, Celeste Jia Ying, Ng, Yong Hong

Source: Nephrology; Dec2023, Vol. 28 Issue 12, p649-654, 6p

Subject Terms: KIDNEY stones, ADENINE, KIDNEY physiology, GENETIC variation, GLYCOGEN storage disease type II

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene

Authors: Lian, Sophie, Ting, Teck Wah, Lai, Angeline H.M., Tan, Ee-Shien, Wei, Heming, Cham, Breana, Tan, Ene-Choo

Source: Journal of the neurological sciences. 414

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120809637.0x000001&indx=1&recIds=ETOCvdc_100120809637.0x000001

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders

Authors: Yap, Chui-Sun, Jamuar, Saumya Shekhar, Lai, Angeline H.M., Tan, Ee-Shien, Ng, Ivy, Ting, Teck Wah, Tan, Ene-Choo

Source: Gene. 731

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097420742.0x000001&indx=1&recIds=ETOCvdc_100097420742.0x000001

Germline AGO2 mutations impair RNA interference and human neurological development

Authors: Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187028522.0x000001&indx=1&recIds=ETOCvdc_100187028522.0x000001

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

Authors: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

Source: Molecular genetics & genomic medicine. 7(4)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084451243.0x000001&indx=1&recIds=ETOCvdc_100084451243.0x000001

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Authors: Goh, Liuh Ling, Lee, Yingshan, Tan, Ee Shien, Lim, James Soon Chuan, Lim, Chia Wei, Dalan, Rinkoo

Source: BMC medical genomics. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127205880.0x000001&indx=1&recIds=ETOCvdc_100127205880.0x000001

Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.

Authors: Tan, Ee-Shien¹ Tan.Ee.Shien@kkh.com.sg, Yong, Min-Hwee² Yong.Min.Hwee@kkh.com.sg, Lim, Eileen C. P.³ Eileen.Lim.CP@kkh.com.sg, Li, Zhi-hui⁴ zhihui@genomax.com.sg, Brett, Maggie S.Y.³ Maggie.Brett@kkh.com.sg, Tan, Ene-Choo^3,5 tanec@bigfoot.com

Source: Molecular Cytogenetics (17558166). 2014, Vol. 7 Issue 1, p1-20. 20p.

Subject Terms: *CHROMOSOMES, *IN situ hybridization, *NUCLEOPROTEINS, *POLYPEPTIDES, *GENETIC disorders

Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.

Authors: Heming Wei, Lai, Angeline, Ee Shien Tan, Koh, Mark Jean Aan, Ng, Ivy, Teck Wah Ting, Thomas, Terrence, Cham, Breana, Jiin Ying Lim, Kam, Sylvia, Chew Yin Jasmine Goh, Grace Lin, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Ene-Choo Tan, Wei, Heming, Tan, Ee Shien, Ting, Teck Wah, Lim, Jiin Ying

Source: Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p38-43, 6p

Subject Terms: CONGENITAL disorders, PHENOTYPES, FRAGILE X syndrome, GENETIC mutation, ICHTHYOSIS, NEUROFIBROMATOSIS 1, RESEARCH, SEQUENCE analysis, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, MULTIPLE human abnormalities, COMPARATIVE studies, DISEASE susceptibility, GENOMES

Geographic Terms: SOUTHEAST Asia

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Authors: Bhatia, Neha S, Lim, Jiin Ying, Bonnard, Carine, Kuan, Jyn-Ling, Brett, Maggie, Wei, Heming, Cham, Breana, Chin, Huilin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Goh, Chew Yin Jasmine, Kam, Sylvia, Liew, Wendy Kein-Meng, Liew, Woei Kang, Lin, Grace, Jain, Kanika, Ng, Alvin Yu-Jin, Subramanian, Deepa, Xie, Min, Tan, Yuen-Ming, Tawari, Nilesh R, Tiang, Zenia, Ting, Teck Wah, Tohari, Sumanty, Tong, Cheuk Ka, Lezhava, Alexander, Ng, Sarah B, Law, Hai Yang, Venkatesh, Byrappa, Tomar, Swati, Sethi, Raman, Tan, Grace, Shanmugasundaram, Arthi, Goh, Denise Li-Meng, Lai, Poh San, Lai, Angeline, Tan, Ee Shien, Ng, Ivy, Reversades, Bruno, Tan, Ene Choo, Foo, Roger, Jamuar, Saumya Shekhar

Source: Archives of Disease in Childhood; 2021, Vol. 106 Issue: 1 p31-37, 7p