Inderneel Sahai
Boston Children's Hospital(US)Massachusetts General Hospital(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Neonatal Health and Biochemistry, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → The increased incidence of congenital hypothyroidism: fact or fancy?(2011)115 cited
- → Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update(2009)87 cited
- → Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa(2015)86 cited
- → Guidelines for implementation of population‐based newborn screening for severe combined immunodeficiency(2010)69 cited