Clinical application of next-generation sequencing for Mendelian diseases

por Jamuar, Saumya Shekhar, Tan, Ene-Choo
Publicado 2015

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus

por Tan, Ene-Choo, Lim, Eileen CP, Lee, Seng-Teik
Publicado 2013

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype

por Kwong, Hui Li, Tay, Yong-Kwang, Tan, Ene-Choo
Publicado 2021

Correlation of cord blood telomere length with birth weight

por Lee, Siew-Peng, Hande, Prakash, Yeo, George SH, Tan, Ene-Choo
Publicado 2017

Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use

por Loke, Mun-Fai, Wei, Heming, Yeo, Junjie, Sng, Ban-Leong, Sia, Alex T, Tan, Ene-Choo
Publicado 2019

Ethnicity and OPRM variant independently predict pain perception and patient-controlled analgesia usage for post-operative pain

por Tan, Ene-choo, Lim, Eileen CP, Teo, Yik-ying, Lim, Yvonne, Law, Hai-yang, Sia, Alex T
Publicado 2009

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

por Tan, Ee-Shien, Yong, Min-Hwee, Lim, Eileen CP, Li, Zhi-hui, Brett, Maggie SY, Tan, Ene-Choo
Publicado 2014

Investigation of variants in estrogen receptor genes and perinatal depression

por Tan, Ene-Choo, Lim, Hwee-Woon, Chua, Tze-Ern, Tan, Hui-San, Lee, Theresa MY, Chen, Helen Y
Publicado 2018

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

por Nagaputra, Jerry C., Koh, Mark J.A., Brett, Maggie, Lim, Eileen C.P., Lim, Hwee-Woon, Tan, Ene-Choo
Publicado 2018

Case-control study of glucocorticoid receptor and corticotrophin-releasing hormone receptor gene variants and risk of perinatal depression

por Tan, Ene-Choo, Chua, Tze-Ern, Lee, Theresa M. Y., Tan, Hui-San, Ting, Joe L. Y., Chen, Helen Y.
Publicado 2015

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

por Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Publicado 2019

Investigating analgesic and psychological factors associated with risk of postpartum depression development: a case–control study

por Suhitharan, Thangavelautham, Pham, Thi Phuong Tu, Chen, Helen, Assam, Pryseley Nkouibert, Sultana, Rehena, Han, Nian-Lin Reena, Tan, Ene-Choo, Sng, Ban Leong
Publicado 2016

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

por Lim, Eileen C. P., Brett, Maggie, Lai, Angeline H. M., Lee, Siew-Peng, Tan, Ee-Shien, Jamuar, Saumya S., Ng, Ivy S. L., Tan, Ene-Choo
Publicado 2015

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

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

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

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

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

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

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

por Tan, Ene‐Choo, Chia, Shi Yun, Rafi’ee, Khadijah, Lee, Shan Xian, Kwek, Andrew Boon Eu, Tan, Sze Hwa, Ng, Victor Weng Leong, Wei, Heming, Koo, Stephanie, Koh, Ai Ling, Koh, Mark Jean‐Aan
Publicado 2021

Mindfulness Awareness Practice (MAP) to Prevent Dementia in Older Adults with Mild Cognitive Impairment: Protocol of a Randomized Controlled Trial and Implementation Outcomes

por Ng, Ted Kheng Siang, Feng, Lei, Fam, Johnson, Rawtaer, Iris, Kumar, Alan Prem, Rane, Grishma, Cheah, Irwin Kee-Mun, Mahendran, Ratha, Lee, Yuan Kun, Tan, Ene Choo, Goh, Lee Gan, Kua, Ee Heok, Mahendran, Rathi
Publicado 2021

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

por Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula
Publicado 2021

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

por 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
Publicado 2016