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NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Scientific Reports|July 21, 2021
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patientsCamilla Wendt, Taru A Muranen, Lotta Mielikäinen, et al.
European Journal of Human Genetics : EJHG|June 9, 2026
Hereditary cancer: Germline testing practices across ERN GENTURIS member countriesMilena Kiljańczyk, Zanda Daneberga, Mikk Tooming, et al.
Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disabilityAnna Lindstrand, Marlene Ek, Malin Kvarnung, et al.
Frontiers in Genetics|July 7, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical settingHelena Malmgren, Malin Kvarnung, Peter Gustafsson, et al.
European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.
Cancers|March 13, 2024
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
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