Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Michelle M. Clark, Zornitza Stark, Lauge Farnaes et al. · npj Genomic Medicine · 2018 · 640 citations · Full text

Life Sciences, Genetics, Pediatrics +17

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 357 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

Pharmacy, Pharmacotherapy, Clinical Nutrition +6

Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium

Herbert L. Bonkovsky, Vinaya C. Maddukuri, Karl E. Anderson et al. · The American Journal of Medicine · 2014 · 262 citations · Full text

Life Sciences, Dermatology, Medical Microbiology +5