Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation von Gomez, Kathleen Mitch Uy, Koo, Stephanie, Koh, Mark Jean‐Aan, Tan, Ene‐Choo

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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation von Tan, Ene‐Choo, Lai, Angeline H. M., Brett, Maggie S. Y.

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Clinical application of next-generation sequencing for Mendelian diseases von Jamuar, Saumya Shekhar, Tan, Ene-Choo

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Innate Immune and Neuronal Genetic Markers Are Highly Predictive of Postoperative Pain and Morphine Patient-Controlled Analgesia Requirements in Indian but Not Chinese or Malay Hys... von Barratt, Daniel T, Sia, Alex T, Tan, Ene-Choo, Somogyi, Andrew A

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Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases von Fong, Nikki, Wei, Heming, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Kam, Sylvia, Jamuar, Saumya Shekhar, Tan, Ene‐Choo

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Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia von Arline Diana, Inne, Tan, Ene-Choo, Gondokaryono, Srie Prihianti, Koh, Mark Jean-Aan, Dwiyana, Reiva Farah, Rahardja, July Iriani, Yogya, Yuri, Rafi'ee, Khadijah, Suwarsa, Oki

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Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy von Yeo, Junjie, Sia, Alex T, Sultana, Rehana, Sng, Ban Leong, Tan, Ene-Choo

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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects von Izumi, Kosuke, Brett, Maggie, Nishi, Eriko, Drunat, Séverine, Tan, Ee-Shien, Fujiki, Katsunori, Lebon, Sophie, Cham, Breana, Masuda, Koji, Arakawa, Michiko, Jacquinet, Adeline, Yamazumi, Yusuke, Chen, Shu-Ting, Verloes, Alain, Okada, Yuki, Katou, Yuki, Nakamura, Tomohiko, Akiyama, Tetsu, Gressens, Pierre, Foo, Roger, Passemard, Sandrine, Tan, Ene-Choo, El Ghouzzi, Vincent, Shirahige, Katsuhiko

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Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa von Tan, Ene‐Choo, Diana, Inne Arline, Wei, Heming, Gondokaryono, Srie Prihianti, Dwiyana, Reiva Farah, Yogya, Yuri, Rahardja, July Iriani, Koh, Mark Jean‐Aan

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A118G Single Nucleotide Polymorphism of Human μ-Opioid Receptor Gene Influences Pain Perception and Patient-controlled Intravenous Morphine Consumption after Intrathecal Morphine f... von SIA, Alex T, LIM, Yvonne, LIM, Eileen C. P, GOH, Rachelle W. C, HAI YANG LAW, LANDAU, Ruth, TEO, Yik-Ying, ENE CHOO TAN

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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders von Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar

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Additional individuals with CHD7 variants in Chinese and other southeast Asian patients von Wei, Heming, Tan, Ee‐Shien, Jamuar, Saumya, Lai, Angeline H. M., Ng, Ivy, Tan, Ene‐Choo

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Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia von Wei, Heming, Wee, Lynette W. Y., Born, Bori, Seang, Sokheng, Koh, Mark J. A., Yee, Ruixiang, Lin, Grace, Rafi'ee, Khadijah, Mey, Sithach, Tan, Ene‐Choo

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Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation von Brett, Maggie, Lai, Angeline H. M., Ting, Teck‐Wah, Tan, Ah‐Moy, Foo, Roger, Jamuar, Saumya, Tan, Ene‐Choo

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability von Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., Di Troia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula

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

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Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia von Bishnoi, Priya, Ng, Yi Zhen, Wei, Heming, Tan, Ene‐Choo, Lunny, Declan P., Wong, X. F. Colin C., Kin Fon, Leong, Gondokaryono, Srie Prihianti, Diana, Inne Arline, Common, John E. A., Koh, Mark J. A., Lane, E. Birgitte

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Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event von Brett, Maggie, Korovesis, George, Lai, Angeline H M, Lim, Eileen C P, Tan, Ene-Choo

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Correlation of cord blood telomere length with birth weight von Lee, Siew-Peng, Hande, Prakash, Yeo, George Sh, Tan, Ene-Choo

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Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 2; peer review: 2 approved] von Kwong, Hui Li, Tay, Yong-Kwang, Tan, Ene-Choo

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