A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Jesse J. Swen, Cathelijne H. van der Wouden, Lisanne E. N. Manson, +248

The Lancet

Drug SafetyAdverse Drug ReactionsPharmacoepidemiologyPharmacologyPharmacogenomics +7

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly, +81

Molecular Psychiatry

Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium

Cathelijne H. van der Wouden, Anne Cambon‐Thomsen, Erika Cecchin, +22

Clinical Pharmacology & Therapeutics

Relevant Pgx-markersGenetic EpidemiologyUbiquitous PharmacogenomicsGenetic MedicineTranslational Medicine +20

Latanoprost, a Prostaglandin Analog, for Glaucoma Therapy

Carl B. Camras, Albert Alm, Peter Watson, +109

Ophthalmology

Ocular DiseaseOphthalmologyMedicineProstaglandin AnalogPharmacotherapy +3

S (blue) cone pathway vulnerability in retinitis pigmentosa, diabetes and glaucoma.

Vivienne C. Greenstein, Donald C. Hood, Robert Ritch, +2

PubMed

Sensitivity LossRetinal DiseasesDiabetic RetinopathyOcular DiseaseRetina +13

Enhancer deletions of the <i>SHOX</i> gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

J Chen, G. Wildhardt, Zeyan Zhong, +6

Journal of Medical Genetics

Implementing pharmacogenomics decision support across seven European countries: The Ubiquitous Pharmacogenomics (U-PGx) project

Kathrin Blagec, Rudolf Koopmann, Mandy Crommentuijn – van Rhenen, +9

Journal of the American Medical Informatics Association

Ubiquitous PgxUbiquitous PharmacogenomicsTranslational MedicineEuropean CountriesBiostatistics +21

<i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Škopková, Friederike Hennig, Byung‐Sik Shin, +23

Human Mutation

GeneticsDisease Gene IdentificationTranscriptional RegulationMendelian DisorderTranslational Biology +17

High penetrance and pronounced variation in expressivity of <i>GCH1</i> mutations in five families with dopa‐responsive dystonia

Daniela Steinberger, YG Weber, Rudolf Korinthenberg, +4

Annals of Neurology

Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, +4

Neurogenetics

Heterozygous MutationSepiapterin Reductase GeneGeneticsNeurologyDopa-responsive Dystonia +1