Ene Choo Tan (Ene-Choo Tan)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 27

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Journal of pediatric genetics

Molecular genetics & genomic medicine

Archives of disease in childhood

This page only lists publications with an associated author ORCID identifier.

Publications

Kathleen Mitch Uy Gomez, Stephanie Koo, Mark Jean-Aan Koh, Ene Choo Tan
Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation. International journal of dermatology (2024)
Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, Vic Khi June Tan, Stephanie Koo, Gen Nishimura, Shahida Moosa, Ai Ling Koh, Ene Choo Tan, Nikki Fong, Saumya Shekhar Jamuar
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease. American journal of medical genetics. Part A (2023)
Inne Arline Diana, Ene Choo Tan, Srie Prihianti Gondokaryono, Mark Koh Jean Aan, Reiva Farah Dwiyana, July Iriani Rahardja, Yuri Yogya, Khadijah Rafi'ee, Oki Suwarsa
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia. The Australasian journal of dermatology (2023)
Xiaoao Dong, Nicholas C Y Png, Marielle V Fortier, Jiin Ying Lim, Kenneth P L Wong, Jonathan T L Choo, Ene Choo Tan, Saumya Shekhar Jamuar
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature. American journal of medical genetics. Part A 188 (9) (2022)
Ene Choo Tan, Angeline H M Lai, Maggie S Y Brett
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation. American journal of medical genetics. Part A 188 (7) (2022)
Ene Choo Tan, Inne Arline Diana, Heming Wei, Srie Prihianti Gondokaryono, Reiva Farah Dwiyana, Yuri Yogya, July Iriani Rahardja, Mark Koh Jean Aan
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa. The Australasian journal of dermatology 63 (4) (2022)
Hui Li Kwong, Yong-Kwang Tay, Ene Choo Tan
Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype. F1000Research 10 (2021)
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Wen Min Cham, Simon Ling, Saumya Shekhar Jamuar, Ene Choo Tan
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. Journal of pediatric genetics 12 (2) (2021)
Gabriel Hong Zhe Wong, Shi Yun Chia, Heming Wei, Khadijah Rafi'ee, Mark Koh Jean Aan, Ene Choo Tan
CARD14-associated papulosquamous eruption (CAPE) in a toddler responding to treatment with acitretin. Pediatric dermatology 38 (4) (2021)
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Wen Min Cham, Simon Ling, Saumya Shekhar Jamuar, Ene Choo Tan
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. Journal of pediatric genetics 12 (2) (2021)
Nikki Fong, Heming Wei, Jiin Ying Lim, Chew-Yin Jasmine Goh, Sylvia Kam, Saumya Shekhar Jamuar, Ene Choo Tan
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases. American journal of medical genetics. Part A (2021)
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Wen Min Cham, Simon Ling, Saumya Shekhar Jamuar, Ene Choo Tan
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. Journal of pediatric genetics 12 (2) (2021)
Lynette Wei Yi Wee, Ene Choo Tan, Priya Bishnoi, Yi Zhen Ng, Declan Patrick Lunny, Hwee-Woon Lim, Siew-Peng Lee, Christina Ong, Te Lu Yap, Yee Hui Mok, Mei Yi Low, Cristelle Chu-Tian Chow, Lian Derrick, John Edmund Armourer Common, E Birgitte Lane, Mark Koh Jean Aan
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease. Pediatric dermatology 38 (4) (2021)
Natja Haag, Ene Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H M Lai, Maggie Brett, Ganeshwaran H Mochida, Stephanie DiTroia, Lynn Pais, Jennifer E Neil, Muna Al-Saffar, Laila Bastaki, Christopher A Walsh, Ingo Kurth, Cordula Knopp
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. European journal of human genetics : EJHG 29 (11) (2021)
Hui Li Kwong, Yong-Kwang Tay, Ene Choo Tan
Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype. F1000Research 10 (2021)
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Wen Min Cham, Simon Ling, Saumya Shekhar Jamuar, Ene Choo Tan
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. Journal of pediatric genetics 12 (2) (2021)
Ene Choo Tan, Shi Yun Chia, Khadijah Rafi'ee, Shan Xian Lee, Andrew Boon Eu Kwek, Sze Hwa Tan, Victor Weng Leong Ng, Heming Wei, Stephanie Koo, Ai Ling Koh, Mark Jean-Aan Koh
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement. Molecular genetics & genomic medicine 10 (1) (2021)
Ted Kheng Siang Ng, Lei Feng, Johnson Fam, Iris Rawtaer, Alan Prem Kumar, Grishma Rane, Irwin Kee-Mun Cheah, Ratha Mahendran, Yuan Kun Lee, Ene Choo Tan, Lee Gan Goh, Ee Heok Kua, Rathi Mahendran
Mindfulness Awareness Practice (MAP) to Prevent Dementia in Older Adults with Mild Cognitive Impairment: Protocol of a Randomized Controlled Trial and Implementation Outcomes. International journal of environmental research and public health 18 (19) (2021)
Neha S Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin, Celia Bosso-Lefevre, Perumal Dharuman, Nathalie Escande-Beillard, Arun George Devasia, Chew Yin Jasmine Goh, Sylvia Kam, Wendy Kein-Meng Liew, Woei Kang Liew, Grace Lin, Kanika Jain, Alvin Yu-Jin Ng, Deepa Subramanian, Min Xie, Yuen-Ming Tan, Nilesh R Tawari, Zenia Tiang, Teck Wah Ting, Sumanty Tohari, Cheuk Ka Tong, Alexander Lezhava, Sarah B Ng, Hai Yang Law, Byrappa Venkatesh, Swati Tomar, Raman Sethi, Grace Tan, Arthi Shanmugasundaram, Denise Li-Meng Goh, Poh-San Lai, Angeline Lai, Ee Shien Tan, Ivy Ng, Bruno Reversades, Ene Choo Tan, Roger Foo, Saumya Shekhar Jamuar, null null
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management. Archives of disease in childhood 106 (1) (2020)
Heming Wei, Angeline Lai, Ee Shien Tan, Mark Koh Jean Aan, Ivy Ng, Teck Wah Ting, Terrence Thomas, Breana Cham, Jiin Ying Lim, Sylvia Kam, Chew Yin Jasmine Goh, Grace Lin, Maggie Brett, Derrick Chan, Saumya Shekhar Jamuar, Ene Choo Tan
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes. Archives of disease in childhood 106 (1) (2020)
Priya Bishnoi, Yi Zhen Ng, Heming Wei, Ene Choo Tan, Declan P Lunny, X F Colin C Wong, Leong Kin Fon, Srie Prihianti Gondokaryono, Inne Arline Diana, John E A Common, Mark Koh Jean Aan, E Birgitte Lane
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia. American journal of medical genetics. Part A 185 (2) (2020)
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 Kovačević, 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 G 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
Germline AGO2 mutations impair RNA interference and human neurological development. Nature communications 11 (1) (2020)
Heming Wei, Ee-Shien Tan, Saumya Shekhar Jamuar, Angeline H M Lai, Ivy Ng, Ene Choo Tan
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients. American journal of medical genetics. Part A 182 (10) (2020)
Heming Wei, Janardhan Krishnappa, Grace Lin, Nirmal Kavalloor, Jiin Ying Lim, Chew-Yin Jasmine Goh, Saumya Shekhar Jamuar, Terrence Thomas, Ene Choo Tan
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant. American journal of medical genetics. Part A 182 (3) (2019)
Heming Wei, Lynette W Y Wee, Bori Born, Sokheng Seang, Mark Koh Jean Aan, Ruixiang Yee, Grace Lin, Khadijah Rafi'ee, Sithach Mey, Ene Choo Tan
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. American journal of medical genetics. Part A 182 (2) (2019)
Ai-Ling Koh, Ee-Shien Tan, Maggie S Brett, Angeline H M Lai, Saumya Shekhar Jamuar, Ivy Ng, Ene Choo Tan
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. Molecular genetics & genomic medicine 7 (4) (2019)
Siew-Peng Lee, Prakash Hande, George Sh Yeo, Ene Choo Tan
Correlation of cord blood telomere length with birth weight. BMC research notes 10 (1) (2017)