David Meili

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Dea Adamsen, V. Ramaekers, Horace T. B. Ho et al. · Molecular Autism · 2014 · 72 citations · Full text

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Iva Karačić, David Meili, Vladimir Sarnavka et al. · Molecular Genetics and Metabolism · 2009 · 70 citations

Croatian Patients, Mendelian Disorder, Biochemistry +10

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study

Betina Fiege, Luisa Bonafé, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2005 · 61 citations

Biochemistry, Medicine, Bioanalysis +6

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense<i>Alu</i>lacking the poly(T)-tail

David Meili, Jana Královičová, Julian A. Zagalak et al. · Human Mutation · 2009 · 36 citations