Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms by D’Gama, Alissa M., Pochareddy, Sirisha, Li, Mingfeng, Jamuar, Saumya S., Reiff, Rachel E., Lam, Anh-Thu N., Sestan, Nenad, Walsh, Christopher A.

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From Big Data to Precision Medicine by Hulsen, Tim, Jamuar, Saumya S, Moody, Alan R, Karnes, Jason H, Varga, Orsolya, Hedensted, Stine, Spreafico, Roberto, Hafler, David A, McKinney, Eoin F

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Therapeutics in paediatric genetic diseases: current and future landscape by Koh, Ai Ling, Jamuar, Saumya Shekhar

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

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder by Jamuar, Saumya S., Picker, Jonathan D., Stoler, Joan M.

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis by Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre

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Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency by Tan, Enrica Ek, Hopkins, Richard A, Lim, Chrissie K, Jamuar, Saumya S, Ong, Christina, Thoon, Koh C, Koh, Mark Ja, Shin, Eun Mong, Lian, Derrick Wq, Weerasooriya, Madhushanee, Lee, Christopher Zw, Soetedjo, Andreas Alvin Pumomo, Lim, Chang Siang, Au, Veonice B, Chua, Edmond, Lee, Hui Yin, Jones, Leigh Ann, James, Sharmy S, Kaliaperumal, Nivashini, Kwok, Jeffery, Tan, Ee Shien, Thomas, Biju, Wu, Lynn Xue, Ho, Lena, Fairhurst, Anna Marie, Ginhoux, Florent, Teo, Adrian Kk, Zhang, Yong Liang, Ong, Kok Huar, Yu, Weimiao, Venkatesh, Byrappa, Tergaonkar, Vinay, Reversade, Bruno, Chin, Keh Chuang, Tan, Ah Moy, Liew, Woei Kang, Connolly, John E

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Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort by Nazeha, Nuraini, Koh, Ai Ling, Kam, Sylvia, Lim, Jiin Ying, Goh, Denise Li Meng, Jamuar, Saumya Shekhar, Graves, Nicholas

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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing by Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop

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Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1 -associated retinopathy by Huang, Zhiqin, Zhang, Dan, Thompson, Jennifer A, Jamuar, Saumya S, Roshandel, Danial, Jennings, Luke, Mellough, Carla, Charng, Jason, Chen, Shang-Chih, McLaren, Terri L, Lamey, Tina M, Chelva, Enid, De Roach, John N, Chan, Choi Mun, McLenachan, Samuel, Chen, Fred K

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes by Chan, Sock Hoai, Bylstra, Yasmin, Teo, Jing Xian, Kuan, Jyn Ling, Bertin, Nicolas, Gonzalez-Porta, Mar, Hebrard, Maxime, Tirado-Magallanes, Roberto, Tan, Joanna Hui Juan, Jeyakani, Justin, Li, Zhihui, Chai, Jin Fang, Chong, Yap Seng, Davila, Sonia, Goh, Liuh Ling, Lee, Eng Sing, Wong, Eleanor, Wong, Tien Yin, Prabhakar, Shyam, Liu, Jianjun, Cheng, Ching-Yu, Eisenhaber, Birgit, Karnani, Neerja, Leong, Khai Pang, Sim, Xueling, Yeo, Khung Keong, Chambers, John C., Tai, E-Shyong, Tan, Patrick, Jamuar, Saumya S., Ngeow, Joanne, Lim, Weng Khong

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Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1 by Lin, Grace, Wei, Heming, Lai, Angeline H. M., Tan, Ee-Shien, Lim, Jiin Ying, Cham, Breana, Ling, Simon, Jamuar, Saumya S., Tan, Ene-Choo

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy 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

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3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema by Jamuar, Saumya, Palmer, Richard, Dawkins, Hugh, Lee, Dae-Wook, Helmholz, Petra, Baynam, Gareth

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The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease by Yap, Jia Ying Celeste, Lim, Jiin Ying, Bhatia, Anju, Tan, Vic Khi June, Koo, Stephanie, Nishimura, Gen, Moosa, Shahida, Koh, Ai Ling, Tan, Ene Choo, Fong, Nikki, Jamuar, Saumya Shekhar

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Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases by Moynihan, Daniel, Monaco, Sean, Ting, Teck Wah, Narasimhalu, Kaavya, Hsieh, Jenny, Kam, Sylvia, Lim, Jiin Ying, Lim, Weng Khong, Davila, Sonia, Bylstra, Yasmin, Balakrishnan, Iswaree Devi, Heng, Mark, Chia, Elian, Yeo, Khung Keong, Goh, Bee Keow, Gupta, Ritu, Tan, Tele, Baynam, Gareth, Jamuar, Saumya Shekhar

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Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes by Wei, Heming, Lai, Angeline, Tan, Ee Shien, Koh, Mark Jean Aan, Ng, Ivy, Ting, Teck Wah, Thomas, Terrence, Cham, Breana, Lim, Jiin Ying, Kam, Sylvia, Goh, Chew Yin Jasmine, Lin, Grace, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Tan, Ene-Choo

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Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases by Moynihan, Daniel, Monaco, Sean, Ting, Teck Wah, Narasimhalu, Kaavya, Hsieh, Jenny, Kam, Sylvia, Lim, Jiin Ying, Lim, Weng Khong, Davila, Sonia, Bylstra, Yasmin, Balakrishnan, Iswaree Devi, Heng, Mark, Chia, Elian, Yeo, Khung Keong, Goh, Bee Keow, Gupta, Ritu, Tan, Tele, Baynam, Gareth, Jamuar, Saumya Shekhar

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Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective by Balakrishnan, Iswaree D., Bylstra, Yasmin, Fong, Nikki, Chai, Nellie B.S., Kam, Sylvia, Khoo, Chun Yuan, Chan, Laura L.H., Koh, Angela S., Tang, Hak Chiaw, Lim, Eric, Tan, Ju Le, Lim, Weng Khong, Pua, Chee Jian, Sim, David, Cook, Stuart A., Tan, Ee Shien, Yeo, Khung Keong, Jamuar, Saumya S.

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Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling by Chin, Hui‐Lin, Benton, Miles C., Yang, Lin, Poon, Kok Siong, Tan, Karen M. L., Jamuar, Saumya S., Foo, Roger, Law, Hai Yang, Goh, Denise Li‐Meng, Chong, Samuel S., Sessions, Paola Florez

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