Malin Kvarnung

Anna Lindstrand 13 collaborations

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Affiliations

Publications (20)

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.

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

Multi-Omic Investigations of a 17-19 Translocation Links

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Pathogenic variants in

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Ataxia in Patients With Bi-Allelic

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Disruptive variants of

DLG4-related synaptopathy: a new rare brain disorder.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in

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