Britt-marie M. Anderlid
Stockholm, AB, Sweden
Last Updated: 09/26/2026
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Found 71 publications
Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.
Journal: Cerebellum (London, England)
Published: December 08, 2025
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
Journal: Genome medicine
Published: May 31, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Journal: Frontiers in genetics
Published: February 21, 2025
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Journal: Scientific reports
Published: September 18, 2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
Journal: Genetics in medicine open
Published: November 30, 2023
Tissue specific trisomy 15 mosaicism associated with urogenital malformations.
Journal: European journal of medical genetics
Published: June 12, 2023
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
Journal: Brain communications
Published: February 21, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Journal: Frontiers in neurology
Published: February 20, 2023
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Journal: European journal of medical genetics
Published: December 12, 2022
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Journal: American journal of medical genetics. Part A
Published: December 02, 2022
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 25, 2022
Last Updated: 09/26/2026