Nicole Engelhardt

Repression of Wnt/β-catenin signaling by SOX9 and Mastermind-like transcriptional coactivator 2

Abhishek Sinha, Vinson B. Fan, Aravinda‐Bharathi Ramakrishnan et al. · Science Advances · 2021 · 40 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Jessica Priestley, Laura Adang, Sarah Drewes Williams et al. · International Journal of Neonatal Screening · 2022 · 29 citations · Full text

Life Sciences, Child Health, Pediatrics +17

Expanding the phenotype, genotype and biochemical knowledge of <scp>ALG3‐CDG</scp>

Hind Alsharhan, Bobby G. Ng, Earnest James Paul Daniel et al. · Journal of Inherited Metabolic Disease · 2021 · 21 citations · Full text

Life Sciences, Biochemistry, Genetics +4

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Jessica Priestley, Lisa M. Pace, Kuntal Sen et al. · Molecular Genetics and Metabolism Reports · 2022 · 21 citations · Full text

Medicine, Neurology, Pediatrics +12

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Christina Lam, Fernando Scaglia, Austin Larson et al. · Molecular Genetics and Metabolism · 2024 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14