Maritta Hellström-Pigg

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

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Harlequin Ichthyosis

Shefali Rajpopat, Celia Moss, Jemima E. Mellerio et al. · Archives of Dermatology · 2011 · 199 citations

Life Sciences, Genetics, Molecular Genetics +16

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

Anders Vahlquist, Anette Bygum, Agneta Gånemo et al. · Journal of Investigative Dermatology · 2009 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

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

Anna Lindstrand, Marlene Ek, Malin Kvarnung et al. · Genetics in Medicine · 2022 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Anna Thomas, Claire Sinclair, Nadiya Mahmud et al. · British Journal of Dermatology · 2007 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17