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Genetic testing

Genetic Testing for TMEM154 Mutations Associated with Lentivirus Susceptibility in Sheep

Michael P. Heaton, Theodore S. Kalbfleisch, [ ... ], the International Sheep Genomics Consortium

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Juan Jiménez-Jáimez, Julián Palomino Doza, [ ... ], Luis Tercedor

Serum Bilirubin Concentration in Healthy Adult North-Europeans Is Strictly Controlled by the UGT1A1 TA-Repeat Variants

Marianne K. Kringen, Armin P. Piehler, [ ... ], Petter Urdal

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Maria Carmela Pera, Giorgia Coratti, [ ... ], Eugenio Mercuri

Genomic information and a person’s right not to know: A closer look at variations in hypothetical informational preferences in a German sample

Laura Flatau, Markus Reitt, [ ... ], Thomas G. Schulze

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

Michele Pinelli, Fabio Acquaviva, [ ... ], Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

The prevalence of the ABCB1-1Δ variant in a clinical veterinary setting: The risk of not genotyping

Evy Beckers, Iris Casselman, [ ... ], Bart J. G. Broeckx

Exploratory content analysis of direct-to-consumer pet genomics: What is being marketed and what are consumers saying?

Nikki E. Bennett, Silvio Ernesto Mirabal Torres, Peter B. Gray

Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies

Anna M. Steele, Kirsty J. Wensley, [ ... ], Beverley M. Shields

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Juha W. Koskenvuo, Inka Saarinen, [ ... ], Tiina Heliö

Open Window: When Easily Identifiable Genomes and Traits Are in the Public Domain

Misha Angrist

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

Tina Likar, Mensuda Hasanhodžić, [ ... ], Karin Writzl

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Richard W. D. Welford, Marco Garzotti, [ ... ], Peter Groenen

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