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Author Details

Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
2010
75
17
PMIDPaper TitleJournal TitlePublished Year
37740604Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.Mol Genet Genomic Med2024
37865865To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.Clin Dysmorphol2024
37799085The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.Am J Med Genet A2024
36935719Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.Front Public Health2023
37878314Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA Netw Open2023
37822540Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.Front Public Health2023
369475073D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.PLOS Digit Health2023
37418643RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.Retina2023
37418611Identification of a de novo Case of COL3A1-Related Ehlers-Danlos Syndrome in a Young Woman Presenting With Spontaneous Direct Carotid-Cavernous Fistula.J Neuroophthalmol2023
37195356Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld-Rieger syndrome: case report and review of literature.Clin Dysmorphol2023
37195341DEGS1 -related leukodystrophy: a clinical report and review of literature.Clin Dysmorphol2023
36722512Therapeutics in paediatric genetic diseases: Current and future landscape.Singapore Med J2023
36777711Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.Mol Syndromol2023
34528395Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?Am J Med Genet A2022
35801299Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.Am J Med Genet A2022
35592647Editorial: AI in Healthcare: From Data to Intelligence.Front Artif Intell2022
36592150Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context.Ann Acad Med Singap2022
36156406Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.Am J Med Genet A2022
34738299Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.Am J Med Genet A2022
32819910Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.Arch Dis Child2021
37090834Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.J Pediatr Genet2021
33624564Deep clinical phenotyping and gene expression analysis in a patient with <i>RCBTB1</i>-associated retinopathy.Ophthalmic Genet2021
33531666A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.Genet Med2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34225778Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era.Genome Med2021
33413596Family history assessment significantly enhances delivery of precision medicine in the genomics era.Genome Med2021
32978145Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.Arch Dis Child2021
30986546Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.Eur J Med Genet2020
32001716Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Nat Commun2020
31833200Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.Am J Med Genet A2020
31854143Turner syndrome in diverse populations.Am J Med Genet A2020
32804436Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.Am J Med Genet A2020
32657013Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Am J Med Genet A2020
32815737Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in <i>TNNI3</i> and <i>TNNT2</i> That Are Common in Chinese Patients.Circ Genom Precis Med2020
32750042Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.J Clin Invest2020
32181122Evaluation of family health history collection methods impact on data and risk assessment outcomes.Prev Med Rep2020
32497805DISSEMINATED BACILLUS-CALMETTE-GUÿRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.Int J Infect Dis2020
30507726Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.Clin Dysmorphol2019
31792112Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: Think Pallister-Hall syndrome.Neurology2019
29961769Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.Genet Med2019
31490282TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.Clin Dysmorphol2019
31231544Implementation of genomics in medical practice to deliver precision medicine for an Asian population.NPJ Genom Med2019
30985308A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.Clin Dysmorphol2019
30921097Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.Clin Dysmorphol2019
30881956From Big Data to Precision Medicine.Front Med (Lausanne)2019
30784236The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.Mol Genet Genomic Med2019
29290337KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet2018
30089799Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.Genet Med2018
30139785Feeding difficulty in an infant: an unusual cause.BMJ Case Rep2018
29681090Williams-Beuren syndrome in diverse populations.Am J Med Genet A2018
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Collaborators

Christopher A Walsh
Broad Institute of MIT and Harvard
Co-authored papers 7
Vorasuk Shotelersuk
King Chulalongkorn Memorial Hospital, Chulalongkorn University
Co-authored papers 5
Steven T Rosen
Co-authored papers 5
Stuart A Cook
Co-authored papers 4
Geoffrey S Ginsburg
National Institutes of Health
Co-authored papers 3
Lori A Orlando
Duke University School of Medicine
Co-authored papers 3
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National Human Genome Research Institute, The National Institutes of Health
Co-authored papers 3
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Harvard Medical School
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Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 2
Gen Nishimura
Co-authored papers 2
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National Human Genome Research Institute, National Institutes of Health
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Wilhelm Foundation
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George Washington University School of Medicine and Health Sciences
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Center for Research on Genomics and Global Health, National Institutes of Health
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King Faisal Specialist Hospital and Research Center
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Yong Loo Lin School of Medicine, National University of Singapore
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Ambroise Wonkam
University of Cape Town
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Tim Hulsen
Department of Hospital Services & Informatics
Co-authored papers 2
Ching-Yu Cheng
Singapore Eye Research Institute, Singapore Duke-NUS Medical School
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Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 2
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 1
Roberto Spreafico
Co-authored papers 1
Robert M Davies
Wellcome Sanger Institute
Co-authored papers 1
Danielle Denisko
University of Toronto
Co-authored papers 1
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
Reece K Hart
Broad Institute of MIT and Harvard
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Tristan Nelson
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Release 1.2