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Page 1
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, Wong WL, Chu YW, Mok GT, Chau CS, McLuskey J, Ong WP, Leong HY, Chan KY, Yang W, Chen JH, Li AM, Sham PC, Lau YL, Chung BH, Lee SL. Leung GK, et al. Among authors: ong wp. Mol Genet Genomic Med. 2016 Nov 13;5(1):40-49. doi: 10.1002/mgg3.258. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116329 Free PMC article.
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli… See abstract for full author list ➔ Hendrikse LD, et al. Nature. 2022 Dec;612(7940):E12. doi: 10.1038/s41586-022-05578-0. Nature. 2022. PMID: 36446943 Free PMC article. No abstract available.
Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli… See abstract for full author list ➔ Hendrikse LD, et al. Nature. 2022 Sep;609(7929):1021-1028. doi: 10.1038/s41586-022-05215-w. Epub 2022 Sep 21. Nature. 2022. PMID: 36131014 Free PMC article.
Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma.
Michealraj KA, Kumar SA, Kim LJY, Cavalli FMG, Przelicki D, Wojcik JB, Delaidelli A, Bajic A, Saulnier O, MacLeod G, Vellanki RN, Vladoiu MC, Guilhamon P, Ong W, Lee JJY, Jiang Y, Holgado BL, Rasnitsyn A, Malik AA, Tsai R, Richman CM, Juraschka K, Haapasalo J, Wang EY, De Antonellis P, Suzuki H, Farooq H, Balin P, Kharas K, Van Ommeren R, Sirbu O, Rastan A, Krumholtz SL, Ly M, Ahmadi M, Deblois G, Srikanthan D, Luu B, Loukides J, Wu X, Garzia L, Ramaswamy V, Kanshin E, Sánchez-Osuna M, El-Hamamy I, Coutinho FJ, Prinos P, Singh S, Donovan LK, Daniels C, Schramek D, Tyers M, Weiss S, Stein LD, Lupien M, Wouters BG, Garcia BA, Arrowsmith CH, Sorensen PH, Angers S, Jabado N, Dirks PB, Mack SC, Agnihotri S, Rich JN, Taylor MD. Michealraj KA, et al. Cell. 2020 Jun 11;181(6):1329-1345.e24. doi: 10.1016/j.cell.2020.04.047. Epub 2020 May 22. Cell. 2020. PMID: 32445698 Free PMC article.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ong wp. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ong wp. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
Yoon SY, Wong SW, Lim J, Ahmad S, Mariapun S, Padmanabhan H, Hassan NT, Lau SY, Ch'ng GS, Haniffa M, Ong WP, Rethanavelu K, Moey LH, Keng WT, Omar J, Mohd Abas MN, Yong CM, Ramasamy V, Md Noor MR, Aliyas I, Lim MCK, Suberamaniam A, Mat Adenan NA, Ahmad ZA, Ho GF, Abdul Malik R, Subramaniam S, Khoo BP, Raja A, Chin YS, Sim WW, Teh BH, Kho SK, Ong ESE, Voon PJ, Ismail G, Lee CL, Abdullah BZ, Loo KS, Lim CS, Lee SJ, Lim KJL, Shafiee MN, Ismail F, Latiff ZA, Ismail MP, Mohamed Jamli MF, Kumarasamy S, Leong KW, Low J, Md Yusof M, Ahmad Mustafa AM, Mat Ali NH, Makanjang M, Tayib S, Cheah N, Lim BK, Fong CK, Foo YC, Mellor Abdullah M, Tan TS, Chow DSY, Ho KF, Raman R, Radzi A, Deniel A, Teoh DCY, Ang SF, Joseph JK, Ng PHO, Tho LM, Ahmad AR, Muin I, Bleiker E, George A, Thong MK, Woo YL, Teo SH. Yoon SY, et al. Among authors: ong wp. J Med Genet. 2022 Mar;59(3):220-229. doi: 10.1136/jmedgenet-2020-107416. Epub 2021 Feb 1. J Med Genet. 2022. PMID: 33526602
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. Itai T, et al. Among authors: ong wp. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. Epub 2020 Nov 10. Hum Mutat. 2021. PMID: 33131106
13 results