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

Reimagining care of people living with rare diseases with artificial intelligence

利用人工智能重新构想罕见病患者的护理方式

Groza, Tudor; Baynam, Gareth; Jamuar, Saumya Shekhar

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

将多组学转化为医疗保健:可扩展和公平实施的必要条件

Tumiene, Birute; Adams, David R; Allaway, Robert; Barrero, Maria J; Chan, Chun-Hung; Faundes, Víctor; Fear, Vanessa S; Glezer, Polina; Fuchs, Claudia; Groza, Tudor; Houwink, Elisa J F; Jamuar, Saumya Shekhar; Letinturier, Mary Catherine V; Lomash, Richa Madan; Puri, Ratna Dua; Reichardt, Juergen K V; Mehrian-Shai, Ruty; van der Westhuizen, Francois H; Varshney, Gaurav K; Yamamoto, Shinya; Baynam, Gareth

Fostering equity in precision health through diverse 3D facial data

通过多样化的3D面部数据促进精准医疗领域的公平性

Jamuar, Saumya; Palmer, Richard; Teo, Zi Qiang; Lee, Stuart; Helmholz, Petra; Chan, Shermaine; Baynam, Gareth

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

对大型语言模型罕见病知识的系统性评估:大型语言模型对罕见病了解多少?

Groza, Tudor; Marcello, Allison J; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N; Graessner, Holm; Chong, Jessica X; Baynam, Gareth; Jamuar, Saumya Shekhar

Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant

由单等位基因 TRPV6 显性负性变异引起的短暂性新生儿甲状旁腺功能亢进

Lam Shang Leen, Jason; Suzuki, Yoshiro; Koh, Ai Ling; Jayagobi, Pooja Agarwal; Nishimura, Gen; Lim, Weng Khong; Jamuar, Saumya Shekhar; Vasanwala, Rashida Farhad

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly

一种新型 GATAD2B 移码变异导致伴有弯指畸形的 GATAD2B 相关神经发育障碍

Tan, Cheryl Weiqi; Lim, Jiin Ying; Rafi'ee, Khadijah; Goh, Jeannette; Choong, Chew Thye; Chao, Sing Ming; Chang, Benjamin; Jamuar, Saumya S; Tan, Ene-Choo

Information content as a health system screening tool for rare diseases

信息内容作为罕见病健康系统筛查工具

Groza, Tudor; Robinson, Peter N; Lim, Weng Khong; Narasimhalu, Kaavya; Hsieh, Jenny; Yeo, Khung Keong; Keow, Goh Bee; Thomas, Terrence; Wong, Tien Yin; Karnani, Neerja; Baynam, Gareth; Jamuar, Saumya Shekhar

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

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case

利用计算方法构建疾病自然史的第一步:从努南综合征案例中汲取的经验教训

Groza, Tudor; Rayabsri, Warittha; Gration, Dylan; Hariram, Harshini; Jamuar, Saumya Shekhar; Baynam, Gareth

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

心面皮肤综合征与免疫缺陷:来自一项国际多中心队列研究的数据

Di Majo, Benedetta Elena; Leoni, Chiara; Cartisano, Eleonora; Fossati, Chiara; Viscogliosi, Germana; Trevisan, Valentina; Bruno, Lucia Pia; Conti, Francesca; Moratti, Mattia; Monaco, Emilia; Rigante, Donato; Rivalta, Beatrice; Cancrini, Caterina; Szczawińska-Popłonyk, Aleksandra; Jamsheer, Aleksander; Obara-Moszyńska, Monika; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Julija; Tüysüz, Beyhan; Jamuar, Saumya Shekhar; Lim, Jiin Ying; Goh, Jeannette; Cereda, Anna; Agovino, Teresa; Contaldo, Ilaria; Gambardella, Maria Luigia; Balduzzi, Adriana Cristina; Cherubino, Alessia; Marrocco, Giovanni Antonio; Bellesi, Silvia; Carusi, Valentina; Rumi, Gabriele; Biondi, Andrea; Zampino, Giuseppe; Saettini, Francesco