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Britt‐Marie Anderlid | Researchclopedia

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Britt‐Marie Anderlid

Karolinska University Hospital ORCID

107

Works

4,170

Citations

35

h-index

66

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Affiliations

Roche (Switzerland)2009–2009

Karolinska University Hospital1999–2024

Illumina (United States)2009–2009

University Hospitals Bristol NHS Foundation Trust2014–2014

Karolinska Institutet2001–2024

Top Works

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma,A.C.J. Gijsbers,et al.

2009292 citations

Congenital heart defects research

Autism Spectrum Disorder Research

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,et al.

2021260 citations

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia,Roberto Giorda,et al.

2011229 citations

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang,Kendra Hoekzema,et al.

2020210 citations

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

Britt‐Marie Anderlid,Jacqueline Schoumans,et al.

2001183 citations

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

Anke Van Dijck,Anneke T. Vulto‐van Silfhout,et al.

2018179 citations

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L. Bruno,Britt‐Marie Anderlid,et al.

2010165 citations

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig,Robert J. Lauerer,et al.

2018149 citations

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

Anna Lindstrand,Jesper Eisfeldt,et al.

2019142 citations