Neha Singh Bhatia - Genetic Mutations

Author Information

Neha Singh Bhatia is affiliated with the Department of Paediatrics at KK Women's and Children's Hospital in Singapore and the Division of Genetics at Children's Hospital at Montefiore, Albert Einstein College of Medicine in Bronx, NY, USA. Her research primarily focuses on the field of genetics, contributing significantly to the understanding of various genetic conditions and their clinical management.

Research Contributions

Neha Singh Bhatia has made substantial contributions to the field of genetics through her research on various genetic disorders. Her work includes studies on the genomic analysis for diagnosis and clinical management in the Singapore Undiagnosed Disease Program, the implications of chromosome 12q24.31 microdeletion in congenital heart disease, and the further delineation of CDC45-related Meier-Gorlin syndrome. Additionally, she has explored the novel Ser40Trp variant in IFITM5 associated with osteogenesis imperfecta and proposed a unifying hypothesis regarding the role of tau in Alzheimer's disease. Her research has been instrumental in advancing the understanding of these complex genetic conditions.

Aliases

Neha Singh Bhatia is also known by the aliases Neha Bhatia and Neha S Bhatia.

Publication and Citation Metrics

Metric	Value
Citation Count	61
h-index	4
Paper Count	6

Publications:

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

DOI: 10.1136/archdischild-2020-319180

Year: 2020

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

DOI: 10.1097/MCD.0000000000000245

Year: 2019

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

DOI: 10.1016/j.ejmg.2019.04.009

Year: 2019

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

DOI: 10.1097/MCD.0000000000000279

Year: 2019

Untangling the role of tau in Alzheimer’s disease: A unifying hypothesis

DOI: 10.2478/s13380-013-0114-5

Year: 2013

Is Autism Spectrum Disorder Genetic?

What is Benzene?

How is Genetic Testing Used in Diagnosis?

How do Genetic Mutations Influence Cancer?

Can Mutations Be Prevented or Controlled?

What is Sickle Cell Anemia?

Can Synonymous Codons Contribute to Disease?

What is Cystic Fibrosis?

How is Cystic Fibrosis Diagnosed?

Are Synonymous Mutations Considered in Genetic Research?

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