Prince Jacob

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

NPJ genomic medicine

Human mutation

Clinical genetics

Manipal University Kasturba Medical College Manipal

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Manipal University Kasturba Medical College Manipal Jul 02 2018

India

PhD Scholar :: Medical Genetics

Publications

Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A 194 (7) (2024)
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A (2024)
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A 194 (7) (2024)
Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta Mohan Girisha, Giedre Grigelioniene
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ genomic medicine 8 (1) (2023)
Pelin Özlem Şimsek Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M Girisha
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Human mutation (2022)
Prince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Nutan Kamath, Shubha Rao Phadke, Mamta Muranjan, Chaitanya A Datar, Anju Shukla, Katta Mohan Girisha
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. American journal of medical genetics. Part A (2021)
Prince Jacob, Katta Mohan Girisha
Three M syndrome 2 in two Indian patients. American journal of medical genetics. Part A 185 (2) (2020)
Prince Jacob, Jai P Soni, Geert Mortier, Katta Mohan Girisha
The third family with Eiken syndrome. Clinical genetics 96 (4) (2019)

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Publication Activity (10 Years)

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Prince Jacob