Ann Nordgren
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Acute Lymphoblastic Leukemia research, Genetics and Neurodevelopmental Disorders, Congenital heart defects research
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)258 cited
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia(2015)192 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
- → Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway(2014)152 cited
- → Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features(2015)142 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