Personal information

No personal information available

Activities

Collapse all

Works (10)

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

The Lancet Regional Health - Western Pacific
2025-02 | Journal article
DOI: 10.1016/j.lanwpc.2025.101471
Contributors: Stella Zhang; Guek Peng Tan; Soh Lan Peh; Swee Lim Ang; Sylvia Kam; Weng Khong Lim; Teck Wah Ting; Angeline Lai; Ee Shien Tan; Saumya Shekhar Jamuar et al.
Source: check_circle
Crossref

Clinical free text to HPO codes

Rare
2023 | Journal article
DOI: 10.1016/j.rare.2023.100007
Contributors: Gabrielle Stinton; Jane A. Lieviant; Sylvia Kam; Jiin Ying Lim; Jasmine Chew-Yin Goh; Weng Khong Lim; Gareth Baynam; Tele Tan; Duc-Son Pham; Saumya Shekhar Jamuar
Source: check_circle
Crossref

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

Journal of Pediatric Genetics
2023-06 | Journal article
DOI: 10.1055/s-0041-1736457
Contributors: Grace Lin; Heming Wei; Angeline H. M. Lai; Ee-Shien Tan; Jiin Ying Lim; Breana Cham; Simon Ling; Saumya S. Jamuar; Ene-Choo Tan
Source: check_circle
Crossref

3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema

PLOS Digital Health
2023-03-22 | Journal article
DOI: 10.1371/journal.pdig.0000090
Contributors: Saumya Jamuar; Alexander Wong; Richard Palmer; Hugh Dawkins; Dae-Wook Lee; Petra Helmholz; Gareth Baynam
Source: check_circle
Crossref

Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort

American Journal of Medical Genetics Part A
2022-12 | Journal article
DOI: 10.1002/ajmg.a.62974
Contributors: Nuraini Nazeha; Ai Ling Koh; Sylvia Kam; Jiin Ying Lim; Denise Li Meng Goh; Saumya Shekhar Jamuar; Nicholas Graves
Source: check_circle
Crossref

Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature

American Journal of Medical Genetics Part A
2022-09 | Journal article
DOI: 10.1002/ajmg.a.62879
Contributors: Xiaoao Dong; Nicholas C. Y. Png; Marielle V. Fortier; Jiin Ying Lim; Kenneth P. L. Wong; Jonathan T. L. Choo; Ene Choo Tan; Saumya Shekhar Jamuar
Source: check_circle
Crossref

Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases

American Journal of Medical Genetics Part A
2022-02 | Journal article
DOI: 10.1002/ajmg.a.62555
Contributors: Nikki Fong; Heming Wei; Jiin Ying Lim; Chew‐Yin Jasmine Goh; Sylvia Kam; Saumya Shekhar Jamuar; Ene‐Choo Tan
Source: check_circle
Crossref

Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?

American Journal of Medical Genetics Part A
2022-01 | Journal article
DOI: 10.1002/ajmg.a.62498
Contributors: Ai Ling Koh; Carine Bonnard; Nur Ain Binte Ali; Bruno Reversade; Saumya Jamuar
Source: check_circle
Crossref

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

American Journal of Medical Genetics Part A
2020-10 | Journal article
DOI: 10.1002/ajmg.a.61798
Contributors: Heming Wei; Ee‐Shien Tan; Saumya Jamuar; Angeline H. M. Lai; Ivy Ng; Ene‐Choo Tan
Source: check_circle
Crossref

Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant

American Journal of Medical Genetics Part A
2020-03 | Journal article
DOI: 10.1002/ajmg.a.61444
Contributors: Heming Wei; Janardhan Krishnappa; Grace Lin; Nirmal Kavalloor; Jiin Ying Lim; Chew‐Yin Jasmine Goh; Saumya Shekhar Jamuar; Terrence Thomas; Ene Choo Tan
Source: check_circle
Crossref

Peer review (3 reviews for 3 publications/grants)

Review activity for BMJ (1)
Review activity for European journal of human genetics (1)
Review activity for Molecular genetics and genomics. (1)
How many people are using ORCID?