Dilated aorta in CNOT3-related neurodevelopmental disorder: 'expanding' the phenotype
Hui Min Lau, Sandra, Jiin Ying, Lim, Jasmine Goh, Chew Yin, Chood, Jonathan, Chow, Cristelle, Ling, Simon, Hong Ng, Yong, Hua, Tan Yi, Teo, Jing Xian, Chua, Khi Pin, Chin, Minning, Lim, Weng Khong, Jamuar, Saumya Shekhar, Meeng Lai, Angeline Hwei, Goh, Jeannette Lay Kuan
Published in Clinical dysmorphology (01.10.2024)
Published in Clinical dysmorphology (01.10.2024)
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PIK3CA -associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Mirzaa, Ghayda, Timms, Andrew E, Conti, Valerio, Boyle, Evan August, Girisha, Katta M, Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O'Connor, Bridget C, Keegan, Catherine E, Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E, Lanoel, Agustina, Conway, Robert L, Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C, Aracena, Mariana, Gripp, Karen W, Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, Jr, John, Guerrini, Renzo, Dobyns, William B
Published in JCI insight (16.06.2016)
Published in JCI insight (16.06.2016)
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Incidental finding of an aortic aneurysm in a paediatric patient with tuberous sclerosis - A case report with literature review
Kong, Kar Yee Catrin, Ting, Chun Yi, Merchant, Khurshid, Lai, Angeline Hwei Meeng, Chowdhury, Sudipta Roy
Published in Proceedings of Singapore Healthcare (06.07.2023)
Published in Proceedings of Singapore Healthcare (06.07.2023)
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Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series
Ting, Teck Wah, Lai, Angeline Hwei Meeng, Choo, Jonathan Tze Liang, Tan, Teng Hong
Published in European journal of pediatrics (01.03.2014)
Published in European journal of pediatrics (01.03.2014)
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Left Ventricular Non-compaction: Is It Genetic?
Ting, Teck Wah, Jamuar, Saumya Shekhar, Brett, Maggie Siewyan, Tan, Ee Shien, Cham, Breana Wen Min, Lim, Jiin Ying, Law, Hai Yang, Tan, Ene Choo, Choo, Jonathan Tze Liang, Lai, Angeline Hwei Meeng
Published in Pediatric cardiology (01.12.2015)
Published in Pediatric cardiology (01.12.2015)
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Haemoglobin E-beta Thalassaemia in Singapore
Tan, Ee Shien, Koh, Cedric, Law, Hai Yang, Tan, Guek Peng, Lai, Angeline Hwei Meeng, Ng, Ivy Swee Lian
Published in Annals of the Academy of Medicine, Singapore (01.06.2014)
Published in Annals of the Academy of Medicine, Singapore (01.06.2014)
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AB118. Validation of next generation sequencing by Sanger sequencing
Low, Meow Hong Wendy, Lai, Hwei Meeng Angeline, Jamuar, Saumya Shekhar, Law, Hai Yang
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome
Lim, Jiin Ying, Jamuar, Saumya Shekhar, Cham, Breana Wen Min, Brett, Maggie, Tan, Ee Shien, Ng, Ivy, Law, Hai Yang, Tan, Ene Choo, Lai, Angeline Hwei Meeng
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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