Malin Kvarnung
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling(2017)284 cited
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)259 cited
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains(2017)179 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders(2016)166 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited
- → 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(2019)141 cited
- → A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT(2013)121 cited