Inderneel Sahai

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +8

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

The increased incidence of congenital hypothyroidism: fact or fancy?

Marvin L. Mitchell, Ho-Wen Hsu, Inderneel Sahai · Clinical Endocrinology · 2011 · 115 citations

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Anke Bergmann, Inderneel Sahai, Jill Falcone et al. · The Journal of Pediatrics · 2009 · 87 citations · Full text

Laboratory Hematology, Biochemistry, Novel Compound Heterozygotes +12