De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy by Itai, Toshiyuki, Hamanaka, Kohei, Sasaki, Kazunori, Wagner, Matias, Kotzaeridou, Urania, Brösse, Ines, Ries, Markus, Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Ong, Winnie P., Chew, Hui B., Rethanavelu, Kavitha, Ranza, Emmanuelle, Blanc, Xavier, Uchiyama, Yuri, Tsuchida, Naomi, Fujita, Atsushi, Azuma, Yoshiteru, Koshimizu, Eriko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Takahashi, Hidehisa, Miyagi, Etsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Taguri, Masataka, Antonarakis, Stylianos E., Nakashima, Mitsuko, Saitsu, Hirotomo, Miyatake, Satoko, Matsumoto, Naomichi

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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay by Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi

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Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II by Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein

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Tandem Processes Identified from Reaction Screening: Nucleophilic Addition to Aryl N-Phosphinylimines Employing La(III)-TFAA Activation by Kinoshita, Hidenori, Ingham, Oscar J, Ong, Winnie W, Beeler, Aaron B, Porco, John A

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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis by Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun

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Nucleophilic Addition to N-Phosphinylimines by Rare-Earth-Metal Triflate/Trifluoroacetic Anhydride Activation by Ong, Winnie W, Beeler, Aaron B, Kesavan, Sarathy, Panek, James S, Porco, John A. Jr

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Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma by Michealraj, Kulandaimanuvel Antony, Kumar, Sachin A., Kim, Leo J.Y., Cavalli, Florence M.G., Przelicki, David, Wojcik, John B., Delaidelli, Alberto, Bajic, Andrea, Saulnier, Olivier, MacLeod, Graham, Vellanki, Ravi N., Vladoiu, Maria C., Guilhamon, Paul, Ong, Winnie, Lee, John J.Y., Jiang, Yanqing, Holgado, Borja L., Rasnitsyn, Alex, Malik, Ahmad A., Tsai, Ricky, Richman, Cory M., Juraschka, Kyle, Haapasalo, Joonas, Wang, Evan Y., De Antonellis, Pasqualino, Suzuki, Hiromichi, Farooq, Hamza, Balin, Polina, Kharas, Kaitlin, Van Ommeren, Randy, Sirbu, Olga, Rastan, Avesta, Krumholtz, Stacey L., Ly, Michelle, Ahmadi, Moloud, Deblois, Geneviève, Srikanthan, Dilakshan, Luu, Betty, Loukides, James, Wu, Xiaochong, Garzia, Livia, Ramaswamy, Vijay, Kanshin, Evgeny, Sánchez-Osuna, María, El-Hamamy, Ibrahim, Coutinho, Fiona J., Prinos, Panagiotis, Singh, Sheila, Donovan, Laura K., Daniels, Craig, Schramek, Daniel, Tyers, Mike, Weiss, Samuel, Stein, Lincoln D., Lupien, Mathieu, Wouters, Bradly G., Garcia, Benjamin A., Arrowsmith, Cheryl H., Sorensen, Poul H., Angers, Stephane, Jabado, Nada, Dirks, Peter B., Mack, Stephen C., Agnihotri, Sameer, Rich, Jeremy N., Taylor, Michael D.

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Failure of human rhombic lip differentiation underlies medulloblastoma formation by Haldipur, Parthiv, Saulnier, Olivier, Sjoboen, Alexandria H, Erickson, Anders W, Ong, Winnie, Gordon, Victor, Coudière-Morrison, Ludivine, Shokouhian, Mohammad, Suárez, Raúl A, Borlase, Stephanie, Scott, David S, Vladoiu, Maria C, Farooq, Hamza, Nakashima, Takuma, Funakoshi, Yusuke, Diaz-Mejia, J Javier, Golser, Joseph, Bach, Kathleen, Phuong-Bao, Tram, Skowron, Patryk, Wang, Evan Y, Balin, Polina, Visvanathan, Abhirami, Lee, John J Y, Ayoub, Ramy, Chen, Xin, Mungall, Karen L, Bérubé, Pierre, Wang, Yu C, Kim, Seung-Ki, Delattre, Olivier, Bourdeaut, Franck, Masliah-Planchon, Julien, Grajkowska, Wieslawa A, Dirks, Peter, Fèvre-Montange, Michelle, Jouvet, Anne, French, Pim J, Kros, Johan M, Zitterbart, Karel, Bailey, Swneke D, Eberhart, Charles G, Giannini, Caterina, Garami, Miklós, Phillips, Joanna J, Ra, Young S, de Torres, Carmen, Ng, Ho-Keung, Poon, Wai S, López-Aguilar, Enrique, Gillespie, G Yancey, Van Meter, Timothy E, Shofuda, Tomoko, Vibhakar, Rajeev, Thompson, Reid C, Cooper, Michael K, Rubin, Joshua B, Kumabe, Toshihiro, Jung, Shin, Iolascon, Achille, Ferrucci, Veronica, de Antonellis, Pasqualino, Zollo, Massimo, Cinalli, Giuseppe, Robinson, Shenandoah, Stearns, Duncan S, Van Meir, Erwin G, Porrati, Paola, Finocchiaro, Gaetano, Massimino, Maura, Carlotti, Carlos G, Roussel, Martine F, Boop, Frederick, Chan, Jennifer A, Aldinger, Kimberly A, Thompson, Eric M, Ansari, Marc, Garre, Maria L, Eguía, Pilar, Pérezpeña, Mario, Cavalli, Florence M G, Wu, Xiaochong, Daniels, Craig, Rich, Jeremy N, Jones, Steven J M, Marra, Marco A, Reimand, Jüri, Sorensen, Poul H, Wechsler-Reya, Robert J, Weiss, William A, Pugh, Trevor J, Garzia, Livia, Stein, Lincoln D, Jabado, Nada, Malkin, David, Golden, Jeffrey A, Doble, Brad, Ramaswamy, Vijay, Millen, Kathleen J, Taylor, Michael D

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Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics by Liang, Jao-Shwann, Hung, Kun-Long, Lin, Li-Ju, Ong, Winnie Peitee, Keng, Wee Teik, Lu, Jyh-Feng

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Expanding the phenome and variome of skeletal dysplasia by Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

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Developmental basis of SHH medulloblastoma heterogeneity by Gold, Maxwell P, Ong, Winnie, Masteller, Andrew M, Ghasemi, David R, Galindo, Julie Anne, Park, Noel R, Huynh, Nhan C, Donde, Aneesh, Pister, Veronika, Saurez, Raul A, Vladoiu, Maria C, Hwang, Grace H, Eisemann, Tanja, Donovan, Laura K, Walker, Adam D, Benetatos, Joseph, Dufour, Christelle, Garzia, Livia, Segal, Rosalind A, Wechsler-Reya, Robert J, Mesirov, Jill P, Korshunov, Andrey, Pajtler, Kristian W, Pomeroy, Scott L, Ayrault, Olivier, Davidson, Shawn M, Cotter, Jennifer A, Taylor, Michael D, Fraenkel, Ernest

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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation by Haldipur, Parthiv, Saulnier, Olivier, Sjoboen, Alexandria H, Erickson, Anders W, Ong, Winnie, Gordon, Victor, Coudière-Morrison, Ludivine, Shokouhian, Mohammad, Suárez, Raúl A, Borlase, Stephanie, Scott, David S, Vladoiu, Maria C, Farooq, Hamza, Nakashima, Takuma, Funakoshi, Yusuke, Diaz-Mejia, J Javier, Golser, Joseph, Bach, Kathleen, Phuong-Bao, Tram, Skowron, Patryk, Wang, Evan Y, Balin, Polina, Visvanathan, Abhirami, Lee, John J Y, Ayoub, Ramy, Chen, Xin, Mungall, Karen L, Bérubé, Pierre, Wang, Yu C, Kim, Seung-Ki, Delattre, Olivier, Bourdeaut, Franck, Masliah-Planchon, Julien, Grajkowska, Wieslawa A, Dirks, Peter, Fèvre-Montange, Michelle, Jouvet, Anne, French, Pim J, Kros, Johan M, Zitterbart, Karel, Bailey, Swneke D, Eberhart, Charles G, Giannini, Caterina, Garami, Miklós, Phillips, Joanna J, Ra, Young S, de Torres, Carmen, Ng, Ho-Keung, Poon, Wai S, López-Aguilar, Enrique, Gillespie, G Yancey, Van Meter, Timothy E, Shofuda, Tomoko, Vibhakar, Rajeev, Thompson, Reid C, Cooper, Michael K, Rubin, Joshua B, Kumabe, Toshihiro, Jung, Shin, Iolascon, Achille, Ferrucci, Veronica, de Antonellis, Pasqualino, Zollo, Massimo, Cinalli, Giuseppe, Robinson, Shenandoah, Stearns, Duncan S, Van Meir, Erwin G, Porrati, Paola, Finocchiaro, Gaetano, Massimino, Maura, Carlotti, Carlos G, Roussel, Martine F, Boop, Frederick, Chan, Jennifer A, Aldinger, Kimberly A, Thompson, Eric M, Ansari, Marc, Garre, Maria L, Eguía, Pilar, Pérezpeña, Mario, Cavalli, Florence M G, Wu, Xiaochong, Daniels, Craig, Rich, Jeremy N, Jones, Steven J M, Marra, Marco A, Reimand, Jüri, Sorensen, Poul H, Wechsler-Reya, Robert J, Weiss, William A, Pugh, Trevor J, Garzia, Livia, Stein, Lincoln D, Jabado, Nada, Malkin, David, Golden, Jeffrey A, Doble, Brad, Ramaswamy, Vijay, Millen, Kathleen J, Taylor, Michael D

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Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia by Mohseni, Jafar, Boon Hock, Chia, Abdul Razak, Che, Othman, Syah Nor Iman, Hayati, Fatemeh, PeiTee, Winnie Ong, Haniffa, Muzhirah, Zilfalil, Bin Alwi, Mohd. Rawi, Rowani, Ngu, Lock-Hock, Sasongko, Teguh Haryo

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients by Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A, Sachdev, Rani, McGillivray, George, Leventer, Richard J, Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J, Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M H, Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi

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Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance by Habib, Anasufiza, Md Yunus, Zabedah, Azize, Nor Azimah, Ch’ng, Gaik-Siew, Ong, Winnie PeiTee, Chen, Bee-Chin, Hsu, Ho-Torng, Wong, Ke-Juin, Pitt, James, Ngu, Lock-Hock

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AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance by Chew, Hui Bein, Ong, Winnie Peitee, Haniffa, Muzhirah Aisha Md, Leong, Huey Yin, Krishnan, Thurga, Poh, Rozaida Yuen Ying, Thong, Meow Keong, Ishak, Mohd Taufik, Keng, Wee Teik

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AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome by Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik

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Nucleophilic Addition to N-Phosphinylimines by Rare-Earth-Metal Triflate/Trifluoroacetic Anhydride Activation by Ong, Winnie W., Beeler, Aaron B., Kesavan, Sarathy, Panek, James S., Porco Jr, John A.

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