Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort
This study elucidates the molecular basis of severe Mendelian developmental defects in early life. Proband-only ES helps in reaching a precise diagnosis in combination with deep phenotyping using fetal autopsy and has a good diagnostic yield. It could be used as a first-tier test, especially in resource-poor settings.
Authors
- Manisha Jana (ORCID: https://orcid.org/0000-0001-7449-6596)
- Mounika Endrakanti
- Madhulika Kabra (ORCID: https://orcid.org/0000-0003-3315-9782)
- Neerja Gupta (ORCID: https://orcid.org/0000-0002-7108-1974)
- Vatsla Dadhwal (ORCID: https://orcid.org/0000-0003-0280-5833)
- Rohit Sadanand (ORCID: https://orcid.org/0000-0002-3299-3794)
- Kamal Naini
- Aparna Sharma (ORCID: https://orcid.org/0000-0002-7369-2007)
Institutions
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1002/pd.6872
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49