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	1.	Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. [electronic resource] by Chew, Yi-Rong Lim, Jiin-Ying Teoh, Oon-Hoe Chen, Ching-Kit Foo, Roger Lai, Angeline Hm Jamuar, Saumya S Producer: 20191206 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant. [electronic resource] by Wei, Heming Krishnappa, Janardhan Lin, Grace Kavalloor, Nirmal Lim, Jiin Ying Goh, Chew-Yin Jasmine Jamuar, Saumya Shekhar Thomas, Terrence Tan, Ene Choo Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome. [electronic resource] by Si-Min Ng, Pamela Khan, Shazia Lim, Jiin Ying Chew-Yin Goh, Jasmine Lin, Grace Xiulin Wei, Heming Tan, Ene Choo Jamuar, Saumya Shekhar Producer: 20200204 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. [electronic resource] by Lim, Jiin Ying Bhatia, Neha Singh Vasanwala, Rashida Farhad Chay, Pui Ling Lim, Kevin Boon Leong Khoo, Poh Choo Schwarze, Ulrike Jamuar, Saumya Shekhar Producer: 20191206 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature. [electronic resource] by Bhatia, Neha S Lim, Jiin-Ying Brett, Maggie S Tan, Ene-Choo Law, Hai Yang Thomas, Biju Choo, Jonathan Lai, Angeline H M Jamuar, Saumya S Producer: 20190819 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature. [electronic resource] by Ting, Teck Wah Brett, Maggie S Cham, Breana W M Lim, Jiin-Ying Law, Hai Yang Tan, Ene Choo Lai, Angeline H M Jamuar, Saumya S Producer: 20160928 In: Clinical dysmorphology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Left Ventricular Non-compaction: Is It Genetic? [electronic resource] by 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 Producer: 20160909 In: Pediatric cardiology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. [electronic resource] by Ting, Chun Yi Bhatia, Neha Singh Lim, Jiin Ying Goh, Chew-Yin Jasmine Vasanwala, Rashida Farhad Ong, Caroline Choo-Phaik Seow, Wan Tew Yeow, Vincent Kok-Leng Ting, Teck Wah Ng, Ivy Swee-Lian Jamuar, Saumya Shekhar Producer: 20201019 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? [electronic resource] by 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 Producer: 20161230 In: EBioMedicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. [electronic resource] by Bonnard, Carine Shboul, Mohammad Tonekaboni, Seyed Hassan Ng, Alvin Yu Jin Tohari, Sumanty Ghosh, Kakaly Lai, Angeline Lim, Jiin Ying Tan, Ene Choo Devisme, Louise Stichelbout, Morgane Alkindi, Adila Banu, Nazreen Yüksel, Zafer Ghoumid, Jamal Elkhartoufi, Nadia Boutaud, Lucile Micalizzi, Alessia Brett, Maggie Siewyan Venkatesh, Byrappa Valente, Enza Maria Attié-Bitach, Tania Reversade, Bruno Kariminejad, Ariana Producer: 20181211 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	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. [electronic resource] by 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 Thong, Meow-Keong Producer: 20190304 In: Journal of genetic counseling vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. [electronic resource] by 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 Producer: 20160622 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. [electronic resource] by Hengel, Holger Bosso-Lefèvre, Célia Grady, George Szenker-Ravi, Emmanuelle Li, Hankun Pierce, Sarah Lebigot, Élise Tan, Thong-Teck Eio, Michelle Y Narayanan, Gunaseelan Utami, Kagistia Hana Yau, Monica Handal, Nader Deigendesch, Werner Keimer, Reinhard Marzouqa, Hiyam M Gunay-Aygun, Meral Muriello, Michael J Verhelst, Helene Weckhuysen, Sarah Mahida, Sonal Naidu, Sakkubai Thomas, Terrence G Lim, Jiin Ying Tan, Ee Shien Haye, Damien Willemsen, Michèl A A P Oegema, Renske Mitchell, Wendy G Pierson, Tyler Mark Andrews, Marisa V Willing, Marcia C Rodan, Lance H Barakat, Tahsin Stefan van Slegtenhorst, Marjon Gavrilova, Ralitza H Martinelli, Diego Gilboa, Tal Tamim, Abdullah M Hashem, Mais O AlSayed, Moeenaldeen D Abdulrahim, Maha M Al-Owain, Mohammed Awaji, Ali Mahmoud, Adel A H Faqeih, Eissa A Asmari, Ali Al Algain, Sulwan M Jad, Lamyaa A Aldhalaan, Hesham M Helbig, Ingo Koolen, David A Riess, Angelika Kraegeloh-Mann, Ingeborg Bauer, Peter Gulsuner, Suleyman Stamberger, Hannah Ng, Alvin Yu Jin Tang, Sha Tohari, Sumanty Keren, Boris Schultz-Rogers, Laura E Klee, Eric W Barresi, Sabina Tartaglia, Marco Mor-Shaked, Hagar Maddirevula, Sateesh Begtrup, Amber Telegrafi, Aida Pfundt, Rolph Schüle, Rebecca Ciruna, Brian Bonnard, Carine Pouladi, Mahmoud A Stewart, James C Claridge-Chang, Adam Lefeber, Dirk J Alkuraya, Fowzan S Mathuru, Ajay S Venkatesh, Byrappa Barycki, Joseph J Simpson, Melanie A Jamuar, Saumya S Schöls, Ludger Reversade, Bruno Producer: 20200413 In: Nature communications vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)