日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore

新加坡国家地中海贫血登记处:30年来实施携带者筛查的历程

Zhang, Stella; Tan, Guek Peng; Peh, Soh Lan; Ang, Swee Lim; Kam, Sylvia; Lim, Weng Khong; Ting, Teck Wah; Lai, Angeline; Tan, Ee Shien; Jamuar, Saumya Shekhar; Law, Hai Yang; Ng, Ivy

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

东南亚16例神经纤维蛋白-1基因变异患者的新变异及临床特征

Lin, Grace; Wei, Heming; Lai, Angeline H M; Tan, Ee-Shien; Lim, Jiin Ying; Cham, Breana; Ling, Simon; Jamuar, Saumya S; Tan, Ene-Choo

Cardiovascular Outcomes in Acute Coronary Syndrome and Malnutrition: A Meta-Analysis of Nutritional Assessment Tools

急性冠脉综合征合并营养不良患者的心血管结局:营养评估工具的荟萃分析

Lai, Angeline Rx; Warrier, Manish; Ng, Ethel Zx; Lin, Chaoxing; Chin, Yip Han; Kong, Gwyneth; Anand, Vickram V; Lee, Ethan Cz; Lai, Haoxing; Ng, Hung Wei; Goh, Rachel Sj; Chong, Bryan; Muthiah, Mark D; Khoo, Chin Meng; Wang, Jiong-Wei; Tse, Gary; Loh, Poay Huan; Mehta, Anurag; Brown, Adrian; Dimitriadis, Georgios K; Chan, Mark Y; Chew, Nicholas W S

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

东南亚努南综合征患者的遗传变异谱和表型特征。

Koh, Ai-Ling; Tan, Ee-Shien; Brett, Maggie S; Lai, Angeline H M; Jamuar, Saumya Shekhar; Ng, Ivy; Tan, Ene-Choo

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

PURA综合征:32例患者的临床特征描述和基因型-表型研究及已发表文献综述

Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; Ddd Study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

Williams-Beuren syndrome in diverse populations

不同人群中的威廉姆斯-博伊伦综合征

Kruszka, Paul; Porras, Antonio R; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D; Boyle, Alec P; Hu, Tommy; Addissie, Yonit A; Mok, Gary T K; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho-Ming; Lo, Ivan F M; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Kisling, Monisha S; Ferreira, Carlos R; de Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S; Lai, Angeline; Tan, Ee Shien; Ying Lim, Jiin; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O; Ashaat, Engy A; Patil, Siddaramappa J; Dowsett, Leah; Eaton, Alison; Innes, A Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H Y; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barriga, Hugo Hernán; Megarbane, Andre; Kozel, Beth A; van Haelst, Mieke M; Stevenson, Roger E; Summar, Marshall; Adeyemo, A Adebowale; Morris, Colleen A; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian

AB008. Bifunctional antibody as a surrogate molecular linker for the treatment of alpha-dystroglycan related muscular dystrophies

AB008. 双功能抗体作为治疗α-肌营养不良蛋白相关肌营养不良症的替代分子连接剂

Halmos, Balazs; Levy, Benjamin; Matsumoto, Shiro; Kido, Jun; Sakamoto, Rieko; Nakamura, Kimitoshi; Mitsubuchi, Hiroshi; Endo, Fumio; Iskandar, Kristy; Sunardi, Mukhamad; Gunadi,; Chien, Shu; Estrada, Sylvia; Polonikov, Alexey; Sirotina, Svetlana; Bykanova, Marina; Bocharova, Anna; Stepanov, Vadim; Solodilova, Maria; Sari, Ariestya Indah Permata; Nauphar, Donny; Pratamawati, Tiar M; Soeroso, Venty Muliana Sari; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Boonyawat, Boonchai; Sathienkijkanchai, Achara; Wasant, Pornswan; Yamaguchi, Seiji; Ha, Ly Thi Thanh; Yang, Chia-Feng; Chu, Tzu-Hung; Huang, Ling-Yi; Liao, Hsuan-Chieh; Soong, Wen-Jue; Niu, Dau-Ming; Le, Lieu Thi; Dinh, Nhung Thi Hong; Hoang, Moc Thi Thanh; Tran, Nga Thi; An, Lan Thuy; Vu, Quang Dinh; Ngo, Ngoc Diem; Le, Hai Thanh; Chen, Pinwen; Wang, Shiao-Fang; Chen, Li-Hsin; Chiou, Li-Yan; Tseng, Yu-Shan; Chien, Yin-Hsiu; Iskandar, Kristy; Makhmudi, Akhmad; Gunadi,; Abacan, Mary Ann; Chiong, Mary Anne D; Srichaisawat, Panuwat; Wichajarn, Khunton; Chaikitpinyo, Arnkisa; Panamonta, Manat; Kampan, Jureeporn; Nguyen, Khanh Ngoc; Nguyen, Ha Thu; Can, Ngoc Thi Bich; Bui, Thao Phuong; Nobuyuki, Shimozawa; Vu, Huynh Anh; Do, Mai Thi Thanh; Vu, Dung Chi; Lerksuthirat, Tassanee; Wikiniyadhanee, Rakkreat; Stitchantrakul, Wasana; Chitphuk, Sermsiri; Dejsuphong, Donniphat; Wasant, Pornswan; Nguyen, Khanh Ngoc; Nguyen, Hoan Thi; Can, Ngoc Thi Bich; Do, Mai Thi Thanh; Bui, Thao Phuong; Fukao, Toshiyuki; Vu, Dung Chi; Kunakorn, Boonyawish; Chitphuk, Sermsiri; Boosabaratana, Manisa; Tunteeratum, Atchara; Sura, Thanyachai; Dejsuphong, Donniphat; Nguyen, Thu Ha; Do Thi, Mo; Thi, Huong Bui; Thi, Xuan Bui; Thuy, Linh Tran THi; Do Thi, Hoa; Thanh, Hoa Nguyen Thi; Chi, Dung Vu; Chang, Sheng-Kai; Lu, Yung-Hsiu; Chen, Yun-Ru; Hsieh, Yu-Ping; Lin, Wei-Jou; Hsu, Ting-Rong; Niu, Dau-Ming; Wikiniyadhanee, Rakkreat; Lerksuthirat, Tassanee; Stitchantrakul, Wasana; Chitphuk, Sermsiri; Dejsuphong, Donniphat; Lam, Stephen T S; Berndt, Anne; Oberkanins, Christian; Puehringer, Helene; Wasant, Pornswan; Sathienkijkanchai, Achara; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Berboso, April Grace; Silao, Catherine Lynn; Dans, Leonila; Sathirapatya, Tikumphorn; Sukawutthiya, Poonyapat; Vongpaisarnsin, Kornkiat; Gunadi,; Budi, Nova; Iskandar, Kristy; Adrianto, Indra; Khoo, Shih-Hong; Tsai, Fang-Chih; Wang, An-Guor; Lu, Yung-Hsiu; Chu, Tzu-Hung; Yang, Chia-Feng; Hsu, Ting-Rong; Lai, Chih-Jou; Niu, Dau-Ming; Kun, Chong; Kim, Yoo-Mi; Lim, James; Poh, Sherry; Tan, Ee Shien; Hoang, Moc Thi Thanh; Dinh, Nhung Thi Hong; Tran, Nga Thi; An, Lan Thuy; Vu, Quang Dinh; Nguyen, Huy Xuan; Ngo, Ngoc Diem; Le, Hai Thanh; Nguyen, Huong M T; Nguyen, Hoa A P; Nguyen, Mai P T; Phan, Chi V; Ta, Van T; Ngo, Ngoc D; Purwoko, Mitayani; Ramayanti, Indri; Roesad, Hasmeinah; Nguyen, Thu Ha; Thuy, Linh Tran Thi; Thi, Xuan Bui; Thi, Huong Bui; Do Thi, Hoa; Thanh, Hoa Nguyen Thi; Do Thi, Mo; Thu, Ha Nguyen; Aradhya, Swaroop; Truty, Rebecca; Solodilova, Maria; Ponomarenko, Irina; Sirotina, Svetlana; Kharchenko, Alexander; Bykanova, Marina; Bocharova, Anna; Vagaytseva, Kseniya; Stepanov, Vadim; Polonikov, Alexey; Polonikov, Alexey; Sirotina, Svetlana; Ponomarenko, Irina; Shvetsov, Yaroslav; Bykanova, Marina; Bocharova, Anna; Vagaytseva, Kseniya; Stepanov, Vadim; Solodilova, Maria; Chen, Yun-Ru; Wasant, Pornswan; Sathienkijkanchai, Achara; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Musthofa, Fuad Dheni; Rochadi,; Gunadi,; Mok, Gary Tsz Kin; Chung, Brian Hon-Yin; Lin, Hsiang-Yu; Lin, Shuan-Pei; Chen, Ming-Ren; Chuang, Chih-Kuang; Lin, Shan-Miao; Hung, Chung-Lieh; Niu, Dau-Ming; Huang, Tzu-Min; Chen, Li-Chu; Chen, Li-Shin; Chou, Shi-Ping; Tseng, Shis-Chuan; Lee, Ni-Chung; Lee, Jin Sook; Chae, Jong-Hee; Tim-Aroon, Thipwimol; Mongkollarp, Nantiya; Khunin, Waraphorn; Wattanasirichaigoon, Duangrurdee; Lu, Yung-Hsiu; Huang, Po-Hsun; Wang, Li-Yun; Hsu, Ting-Rong; Li, Hsing-Yuan; Hsieh, Yu-Ping; Hung, Sheng-Che; Niu, Dau-Ming; Ahmed, Sibtain; Jafri, Lena; Khan, Aysha Habib; Siddiqui, Imran; Majid, Hafsa; Ghani, Farooq; Tseng, Szu Yin; Yang, Chia Feng; Hung, Chu Tzu; Chiang, Chuan-Chi; Ho, Hui-Chen; Niu, Dau-Ming; Winarni, Tri; Sumekar, Tanjung; Sardjana, Widodo; Hardian, Hardian; Faradz, Sultana MH; Niu, Dau-Ming; Hsu, Ming-Jia; Chang, Fu-Pang; Lu, Yung-Hsiu; Hung, Sheng-Che; Wang, Yu-Chen; Yang, An-Hang; Hsu, Chia-Lin; Bain, Sharon; Fletcher, Janice M; Hall, Rachel; Grist, Scott; Yamaguchi, Seiji; Hasegawa, Yuki; Yamada, Kenji; Bo, Ryosuke; Kobayashi, Hironori; Taketani, Takeshi; Niu, Dau-Ming; Hsu, Ting-Rong; Hung, Sheng-Che; Chang, Fu-Pang; Yu, Wen-Chung; Sung, Shih-Hsien; Hsu, Chia-Lin; Desnick, Robert J; Cavan, Barbra Charina; Mendoza, Antoinette; Veloso, Girlie; Sukawutthiya, Poonyapat; Sathirapatyaa, Tikumphorn; Vongpaisarnsina, Kornkiat; Pratamawati, Tiar; Sihombing, Nydia; Nauphar, Donny; Faradz, Sultana MH; Chanayat, Ratchadaporn; Sawasdichai, Sunisa; Limwongse, Chanin; Thongnoppakhun, Wanna; Vu, Dung Chi; Can, Ngoc Bich Thi; Nguyen, Khanh Ngoc; Bui, Thao Phuong; Yoo, Han-Wook; Kim, Gu-Hwan; Hwu, Wuh-Liang; Klumsathian, Sommon; Lorlipiwong, Woramon; Iemwimangsa, Nareenart; Sensorn, Insee; Panthan, Bhakbhoom; Chareonsirisuthigul, Takol; Trachoo, Objoon; Chantratita, Wasun; Chu, Tzu-Hung; Niu, Dau-Ming; Maritska, Ziske; Sakti, Siti Rokoyah Rezkylia; Zen, Nyayu Fauziah; Hayati, Lusia; Aditiawati, Aditiawati; Sawangareetrakul, Phannee; Champattanachai, Voraratt; Cairns, James R Ketudat; Ariani, Yulia; Priambodo, Rizky; Hafifah, Cut Nurul; Sjarif, Damayanti Rusli; Chenbhanich, Jirat; Treadwell, Thomas; Cheema, Asma; Rosenthal, Samantha; Kamboh, M Ilyas; Fernandez-Ibanez, Ana; Ugalde-Herra, Rodrigo; Carneiro-Martinez, Carolina; Verdejo-Rodriguez, Lara; Anon-Alvarez, Elena; Najri, Nadia Iryani; Mazlan, Zulina; Jaimin, Joel Judson; Mohammad, Rashidah; Mohd, Tajul Ariffin Awang; Hameed, Ahneez Abdul; Kumar, Vijay; Hoque, Mohammad Zahirul; Listyasari, Nurin Aisyiyah; Sihombing, Nydia Rena Benita; Winarni, Tri Indah; Belladona, Maria; Faradz, Sultana MH; Ngo, Thi Tuyet Nhung; Ly, Thi Thanh Ha; Ngo, Diem Ngoc; Nguyen, Thi Phuong Mai; An, Thuy Lan; Nguyen, Thi Mai Huong; Ngo, Manh Tien; Nguyen, Hoang Nam; Jindal, Ankur; Polipalli, Sunil Kumar; Gupta, Sangeeta; Prasad, Sudha; Tempe, Anjali; Kapoor, Seema; Juniarto, Achmad Zulfa; Listyasari, Nurin Aisyiyah; Faradz, Sultana MH; Nguyen, Huong; Nguyen, Ha; Ngiwsara, Lukana; Svasti, Jisnuson; Cairns, James; Champattanachai, Voraratt; Vatanavicharn, Nithiwat; Wasant, Pornswan; Kuptanon, Chulaluck; Wattanasirichaigoon, Duangrurdee; Holsakul, Kornkamol; Wichajarn, Khunton; Chiong, Mary Anne D; Sanchez-Gan, Benilda; Sasai, Hideo; Fujiki, Ryoji; Ohara, Osamu; Nakajima, Yoko; Ito, Tetsuya; Kobayashi, Masahisa; Tajima, Go; Sakamoto, Osamu; Matsumoto, Shiro; Nakamura, Kimitoshi; Hamazaki, Takashi; Hasegawa, Yuki; Kobayashi, Hironori; Fukao, Toshiyuki; Worachotekamjorn, Juthamas; Hansakunachai, Tippawan; Rojnueangnit, Kitiwan; Roongpraiwan, Rawiwan; Ruangdaraganon, Nichara; Wattanasirichaigoon, Duangrurdee; Jinawath, Natini; Limprasert, Pornprot; Puppala, Madhavi; Veerathu, Lakshmi Kalpana; Argi, Anuradha; Godi, Sudhakar; Polipalli, Sunil Kumar; Ching, Leng Kee; Low, Wendy; Tan, Yuen Ming; Solodilova, Maria; Ponomarenko, Irina; Bykanova, Marina; Vagaytseva, Kseniya; Stepanov, Vadim; Polonikov, Alexey; Li, Mei-Hsin; Santiko, Wiwid; Makhmudi, Akhmad; Gunadi,; Gunadi,; Sunardi, Mukhamad; Kalim, Alvin; Dwihantoro, Andi; Yoon, Chui Sheun; Tan, Yuen Ming; Law, Hai Yang; Silao, Catherine Lynn T; Fabella, Terence Diane F; Naranjo, Maria Liza T; Padilla, Carmencita D; Yuson, Ernesto D J; Liammongkolkul, Somporn; Sanomcham, Kasinat; Vatanavicharn, Nithiwat; Sathienkijkanchai, Achara; Ranieri, Enzo; Wasant, Pornswan; Vu, Dung Chi; Nguyen, Khanh Ngoc; Can, Ngoc Bich; Bui, Thao Phuong; Fukami, Maki; Tomar, Swati; Sethi, Raman; Sundar, Gangadhara; Quah, Thuan Chong; Quah, Boon Long; Lai, Poh San; Sait, Haseena; Jindal, Ankur; Belwal, Ravi Shankar; Yadav, Sangeeta; Ramji, Siddarth; Thelma, Bittianda Kuttapa; Kapoor, Seema; Kondo, Akane; Nambara, Shizue; Iba, Tomomi; Fukano, Chika; Nakaoku, Daichi; Takahashi, Kazumi; Yamasaki, Mikio; Morine, Mikio; Maeda, Kazuhisa; El Gammal, Mona; Aglan, Mona; Temtamy, Samia; Cheema, Asma; Pirim, Dilek; Wang, Xinbin; Demirci, F Yesim; Kamboh, M Ilyas; Stepanov, Vadim; Vagaitseva, Kseniya; Bocharova, Anna; Kharkov, Vladimir; Silao, Catherine Lynn Tipton; Fabella, Terence Diane F; Naranjo, Maria Liza T; Padilla, Carmencita D; Yuson, Ernesto D J; Gouda, Amr; Temtamy, Samia; Ali, Ola; Nazim, Walaa; Aglan, Mona; Otaify, Ghada; Vu, Dung Chi; Can, Ngoc T B; Nguyen, Khanh Ngoc; Bui, Thao Phuong; Le, Hai Thanh; Nguyen, Dat Phu; Dang, Duong Anh; Ellard, Sian; Pandey, Sanjeev; Verma, Jyotsna; Puri, Ratna D; Loke, Mun Fai; Jamuar, Saumya Shekhar; Lim, Eileen Chew Ping; Tan, Ene Choo; Kumar, Somesh; Kumar, Arun; Faruq, Mohammed; Kapoor, Seema; Alcausin, Maria Melanie Liberty; Sur, Aster Lynn D; Tumulak, Ma-Am Joy R; Padilla, Carmencita D; Vorravanpreecha, Nattariya; Lertboonnum, Tanayoot; Rodjanadit, Rungrote; Sriplienchan, Pak; Rojnueangnit, Kitiwan; Wichajarn, Khunton; Kiatchoosakul, Pakaphan; Komwilaisak, Ratana; Ngo, Manh Tien; Nguyen, Thi Phuong Mai; Ngo, Thi Tuyet Nhung; Nguyen, Thi Mai Huong; An, Thuy Lan; Ngo, Diem Ngoc; Vu, Chi Dung; Bui, Phuong Thao; Sasai, Hideo; Aoyama, Yuka; Otsuka, Hiroki; Abdelkreem, Elsayed; Naiki, Yasuhiro; Kubota, Mitsuru; Sekine, Yuji; Itoh, Masatsune; Nakama, Mina; Ohnishi, Hidenori; Fujiki, Ryoji; Ohara, Osamu; Fukao, Toshiyuki; Cham, Breana; Lai, Angeline; Nguyen, Thu Ha; Thi, Huong Bui; Thuy, Linh Tran Thi; Do Thi, Mo; Thanh, Hoa Nguyen Thi; Thi, Xuan Bui; Do Thi, Hoa; Thu, Ha Nguyen; Hastings, Rosalind; van Ravenswaaij-Arts, Conny; van Asperen, Christi; Peterlin, Borut; Garavelli, Livia; Thuy, Lan An; Wasant, Pornswan; Vattanawicharn, Nithiwat; Sathienkitkanchai, Achara; Liammongkolkul, Somporn; Maharani, Nani; Setyawati, Amallia N; Rifqi, Sodiqur; Sungkar, Muhammad A; Pals, Gerard; Faradz, Sultana MH; Tim-Aroon, Thipwimol; Leklab, Suphatcharee; Satawiriya, Marin; Ketsuwan, Sirima; Wattanasirichaigoon, Duangrurdee; Vu, Dung Chi; Nguyen, Khanh Ngoc; Can, Ngoc Thi Bich; Bui, Thao Phuong; Le, Hai Thanh; Cheng, Chih-Ya; Hsu, Ting-Rong; Yang, Chia-Feng; Chu, Tzu-Hung; Lu, Yung-Hsiu; Chang, Sheng-Kai; Niu, Dau-Ming; Chukua, Kanokporn; Netsawang, Chayanont; Padungthai, Kittipoom; Khetkham, Thanitchet; Surapolchai, Pacharapan; Rojnueangnit, Kitiwan; Chong, Anne; Lai, Poh San; Chew, Soo Hong; Gouin, Jean-Philippe; Ebstein, Richard P; Jang, Dae-Hyun; Garg, Ritika; Kapoor, Seema; Nguyen, Huong M T; Nguyen, Hoa A P; Nguyen, Mai P T; Phan, Chi V; Ta, Van T; Ngo, Ngoc D; Oliveira, Sofia; Francisco, Vania; Oliveira, Pedro; Nguyen, Mai Thi Phuong; Nguyen, Mai; Chen, Pinwen; Wang, Shiao-Fang; Chen, Li-Hsin; Tseng, Yu-Shan; Chien, Yin-Hsiu; Thamrongajariyakul, Chatchai; Sathienkijkanchai, Achara; Oberkanins, Christian; Berndt, Anne; Hauser, Barbara; Puehringer, Helene; Do, Huy Duong; Bui, Thi Phuong Hoa; Ly, Thi Thanh Ha; Pham, Thi Dieu Linh; Tran, Trung Kien; Le, Thi Thanh Huong; Le, Sy Vinh; Nguyen, Thanh Liem; Polipalli, Sunil; Verma, Prashant; Jindal, Ankur; Kapoor, Seema; Faradz, Sultana MH; Listyasari, Nurin Aisyiyah; Juniarto, Achmad Zulfa; Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi; Huang, You-Hsin; Lin, Shuan-Pei; Wu, Yu-Hung; Lin, Hsu-Ying; Huang, You-Hsin; Lin, Shuan-Pei; Lei, Shao-Yu; Cheng, Seng H; Zhu, Yunxiaang

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

基因组测序中的偶然发现:个性化医疗的障碍?

Jamuar, Saumya Shekhar; Kuan, Jyn Ling; Brett, Maggie; Tiang, Zenia; Tan, Wilson Lek Wen; Lim, Jiin Ying; Liew, Wendy Kein Meng; Javed, Asif; Liew, Woei Kang; Law, Hai Yang; Tan, Ee Shien; Lai, Angeline; Ng, Ivy; Teo, Yik Ying; Venkatesh, Byrappa; Reversade, Bruno; Tan, Ene Choo; Foo, Roger

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

USP9X基因的新生功能丧失突变会导致女性特有的、可识别的综合征,伴有发育迟缓和先天性畸形。

Reijnders, Margot R F; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M A; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

DVL1基因突变会导致骨硬化型罗宾诺综合征

Bunn Kieran J, Daniel Phil, Rösken Heleen S, O'Neill Adam C, Cameron-Christie Sophia R, Morgan Tim, Brunner Han G, Lai Angeline, Kunst Henricus P M, Markie David M, Robertson Stephen P