Sonal Mahajan

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 2

Top Topics

Subarachnoid Hemorrhage

Top Venues

Journal of inherited metabolic disease

Journal of medical genetics

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

Publications

Francisco Del Caño-Ochoa, Bobby George Ng, Antonio Rubio-Del-Campo, Sonal Mahajan, Matthew P Wilson, Marçal Vilar, Daisy Rymen, Paula Sánchez-Pintos, Janna Kenny, Myriam Ley Martos, Teresa Campos, Saskia B Wortmann, Hudson H Freeze, Santiago Ramón-Maiques
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. Journal of inherited metabolic disease (2023)
Sonal Mahajan, Bobby George Ng, Lama AlAbdi, Paul Daniel James Earnest, Paulina Sosicka, Nisha Patel, Rana Helaby, Firdous Abdulwahab, Miao He, Fowzan Sami Alkuraya, Hudson H Freeze
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. Journal of medical genetics (2022)