Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 2; peer review: 2 approved]

by Hui Li Kwong, Yong-Kwang Tay, Ene-Choo Tan
Published 2021-06-01

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 1; peer review: 2 approved]

by Hui Li Kwong, Yong-Kwang Tay, Ene-Choo Tan
Published 2021-02-01

Correlation of cord blood telomere length with birth weight

by Siew-Peng Lee, Prakash Hande, George SH Yeo, Ene-Choo Tan
Published 2017-09-01

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report

by Xinyi Chin, Aravind Venkatesh Sreedharan, Ene Choo Tan, Ene Choo Tan, Heming Wei, Jyn Ling Kuan, Christopher Wen Wei Ho, Joyce Ching Mei Lam, Teck Wah Ting, Rashida Farhad Vasanwala
Published 2021-09-01

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

by Maggie Brett, John McPherson, Zhi Jiang Zang, Angeline Lai, Ee-Shien Tan, Ivy Ng, Lai-Choo Ong, Breana Cham, Patrick Tan, Steve Rozen, Ene-Choo Tan
Published 2014-01-01

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

by Jerry C. Nagaputra, MBBS, Mark J.A. Koh, MBBS, Maggie Brett, PhD, Eileen C.P. Lim, BSc(Hon), Hwee-Woon Lim, MSc, Ene-Choo Tan, PhD
Published 2018-05-01

Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program

by Hwee-Woon Lim, Woei-Yuh Saw, Lei Feng, Yuan-Kun Lee, Ratha Mahendran, Irwin Kee-Mun Cheah, Iris Rawtaer, Alan Prem Kumar, Ee-Heok Kua, Rathi Mahendran, Ene-Choo Tan
Published 2018-06-01

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

by Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, Zenia Tiang, Wilson Lek Wen Tan, Jiin Ying Lim, Wendy Kein Meng Liew, Asif Javed, Woei Kang Liew, Hai Yang Law, Ee Shien Tan, Angeline Lai, Ivy Ng, Yik Ying Teo, Byrappa Venkatesh, Bruno Reversade, Ene Choo Tan, Roger Foo
Published 2016-03-01

Germline AGO2 mutations impair RNA interference and human neurological development

by Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Published 2020-11-01