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Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: haniffa m. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T, Maeda H, Kikuchi M, Yokoyama H, Sakamoto M, Iwama K, Sekiguchi F, Hamanaka K, Fujita A, Mizuguchi T, Ogata K, Miyake N, Miyatake S, Kobayashi M, Matsumoto N. Saida K, et al. Among authors: haniffa m. Clin Genet. 2021 Dec;100(6):722-730. doi: 10.1111/cge.14066. Epub 2021 Oct 7. Clin Genet. 2021. PMID: 34569062
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: haniffa m. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: haniffa m. J Hum Genet. 2020 Sep;65(9):751-757. doi: 10.1038/s10038-020-0765-3. Epub 2020 May 14. J Hum Genet. 2020. PMID: 32405030
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: haniffa m. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M. Shiraku H, et al. Among authors: haniffa m. Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec. Epilepsia Open. 2018. PMID: 30525118 Free PMC 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: haniffa m. 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
Inflammatory Memory in Psoriasis: From Remission to Recurrence.
Francis L, Capon F, Smith CH, Haniffa M, Mahil SK. Francis L, et al. Among authors: haniffa m. J Allergy Clin Immunol. 2024 May 16:S0091-6749(24)00506-2. doi: 10.1016/j.jaci.2024.05.008. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38761994 Free article. Review.
Mapping Human Immunity and the Education of Waldeyer's Ring.
Talks BJ, Mather MW, Chahal M, Coates M, Clatworthy MR, Haniffa M. Talks BJ, et al. Among authors: haniffa m. Annu Rev Genomics Hum Genet. 2024 Apr 9. doi: 10.1146/annurev-genom-120522-012938. Online ahead of print. Annu Rev Genomics Hum Genet. 2024. PMID: 38594932 Review.
176 results