M. Hellström-Pigg

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

L. Levin, H. Helgadottir, A. Nordgren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

J. McGrath, M. Virtanen, A. Vahlquist, 2014, Clinical and experimental dermatology.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

J. Fischer, A. Gånemo, M. Virtanen, 2010, The Journal of investigative dermatology.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

A. Nordgren, J. Eisfeldt, D. Nilsson, 2021, Genome Medicine.

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

D. Kelsell, C. Mein, C. Turc‐Carel, 2007, The British journal of dermatology.