Katja Ludin - Publications

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

Journal: American journal of medical genetics. Part A

Published: March 14, 2025

Clinical Relevance of a 16-Gene Pharmacogenetic Panel Test for Medication Management in a Cohort of 135 Patients.

Journal: Journal of clinical medicine

Published: June 25, 2021

Implementation and management outcomes of pharmacogenetic CYP2C19 testing for clopidogrel therapy in clinical practice.

Journal: European journal of clinical pharmacology

Published: September 14, 2020

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

Journal: Human mutation

Published: June 15, 2017

The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: April 19, 2017

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Journal: Nature communications

Published: December 01, 2015

New insights into the performance of human whole-exome capture platforms.

Journal: Nucleic acids research

Published: November 17, 2014

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.

Journal: Blood cells, molecules & diseases

Published: October 13, 2012