Britt-Marie Anderlid

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt et al. · Nature Genetics · 2006 · 466 citations

Genetic Disorder, Genetics, Common Inversion Polymorphism +9

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Mark E. Lindsay, Dorien Schepers, Nikhita Bolar et al. · Nature Genetics · 2012 · 454 citations · Full text

Thoracic Aortic Aneurysm, Syndromic Presentation, Developmental Biology +5

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang et al. · Nature Neuroscience · 2017 · 176 citations · Full text

Neurodevelopmental Disorders, Neurodevelopmental Disorder Genes, Functional Domains +12

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

Hitisha P. Zaveri, T. Beck, Andrés Hernández et al. · PLoS ONE · 2014 · 59 citations · Full text

Genetics, Cardiac Critical Regions, Molecular Genetics +17