Stephen G. Kahler

The Epidemiology of Childhood Cardiomyopathy in Australia

Alan Nugent, Piers E.F. Daubeney, Patty Chondros et al. · New England Journal of Medicine · 2003 · 766 citations · Full text

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Donald H. Chace, David S. Millington, Naoto Terada et al. · Clinical Chemistry · 1993 · 375 citations

Neonatology, Diagnosis, Pathology +20

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 335 citations · Full text

Mechanobiology, Developmental Anomaly, Either Enpp1 +7

Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism

Stepan Melnyk, George J. Fuchs, Eldon G. Schulz et al. · Journal of Autism and Developmental Disorders · 2011 · 246 citations · Full text

Metabolic Syndrome, Nutrition, Metabolic Imbalance Associated +10