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Natalie B. Tan
Observed names:
Natalie B Tan,
Natalie B. L. Tan,
Natalie B.L. Tan,
Natalie Boon Lin Tan,
Natalie Tan,
Tan, Natalie B.,
Tan, Natalie Boon Lin
show all 7
Institutions:
Royal Children's Hospital,
The University of Melbourne,
Victorian Clinical Genetics Services,
Murdoch Children's Research Institute
Observed institutions:
Western University,
Royal Children's Hospital,
The University of Melbourne,
Victorian Clinical Genetics Services,
Children’s Health Research Institute,
Murdoch Children's Research Institute,
Lawson Research Institute
show all 7
ORCID:
0000-0003-3339-7342
Observed ORCID:
0000-0003-3339-7342
OpenAlex ID:
A5004802161
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020
·
Australian Genomics Health Alliance Acute Care Flagship
, Sebastian Lunke
, et al.
·
JAMA
·
244
PDF
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
2024
·
Yuyang Chen
, Ruebena Dawes
, et al.
·
Nature
·
167
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
2018
·
Zornitza Stark
, Sebastian Lunke
, et al.
·
Genetics in Medicine
·
161
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
2020
·
Natalie B. Tan
, Rachel Stapleton
, et al.
·
Molecular Genetics & Genomic Medicine
·
89
PDF
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption
2022
·
Alan J. Robertson
, Natalie B. Tan
, et al.
·
Genetics in Medicine
·
65
PDF
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
2024
·
María del Rocío Pérez Baca
, Eva Z. Jacobs
, et al.
·
The American Journal of Human Genetics
·
46
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
2020
·
Alison Yeung
, Natalie B. Tan
, et al.
·
Genetics in Medicine
·
39
Insights into the genotype-phenotype correlation and molecular function of SLC25A46
2018
·
Alexander J. Abrams
, Flavia Fontanesi
, et al.
·
Human Mutation
·
33
PDF
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
2020
·
Xiaomin Dong
, Natalie B. Tan
, et al.
·
The American Journal of Human Genetics
·
31
PDF
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
2025
·
Daniella H. Hock
, Nikeisha J. Caruana
, et al.
·
Genome Medicine
·
29
PDF
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
2021
·
Thomas Cloney
, Lyndon Gallacher
, et al.
·
Journal of Medical Genetics
·
19
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit
2019
·
Natalie B Tan
, Tiong Yang Tan
, et al.
·
Journal of Paediatrics and Child Health
·
15
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
2021
·
Natalie B Tan
, Alistair T Pagnamenta
, et al.
·
Journal of Medical Genetics
·
11
Feasibility and outcomes of screening for cardiovascular risk factors in the e mergency d epartment
2013
·
Natalie Tan
, David McDonald Taylor
·
Emergency Medicine Australasia
·
9
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020
·
Sebastian Lunke
, Stefanie Eggers
, et al.
·
Obstetrical & Gynecological Survey
·
8
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
2025
·
Charlotte Guillouet
, Valeria Agostini
, et al.
·
The American Journal of Human Genetics
·
6
PDF
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue
2025
·
Melanie J. Ludlow
, Oleksandr V. Povstyan
, et al.
·
iScience
·
4
Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia
2023
·
Melanie J Ludlow
, Oleksandr V Povstyan
, et al.
·
medRxiv
·
4
PDF
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
2026
·
Natalie B. Tan
, Matthias Gautschi
, et al.
·
The American Journal of Human Genetics
·
2
Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex
2017
·
Natalie B.L. Tan
, Simon Tamblyn
, et al.
·
Journal of Pediatric Gastroenterology and Nutrition
·
2
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
2025
·
Teresa Zhao
, Kirsten Allan
, et al.
·
American Journal of Medical Genetics Part A
·
1
Opportunistic research in rural areas through community health worker training: A cost-effective method of researching medication misuse in rural India
2016
·
Nathan Grills
, Jachin Velavan
, et al.
·
Indian Journal of Community Health (Indian Association of Preventive and Social Medicine)
·
1
PDF
Recommendations for the re-analysis of existing genomic data from patients with epilepsy
2026
·
Alan J. Robertson
, Natalie B. Tan
, et al.
·
Genetics in Medicine Open
PDF
For every question, there is an answer: Application of genomic sequencing and functional genomics for disease gene discovery in children with orphan phenotypes
2026
·
Tan, Natalie Boon Lin
·
Minerva Access (University of Melbourne)
Rapid genomic testing in acute paediatric care: Is it worth the trouble?
2018
·
Zornitza Stark
, Sebastian Lunke
, et al.
·
Pathology
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Works count:
30
Citation count:
986
H-index:
12
I10-index:
13
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