Karen Brøndum‐Nielsen

机构：University of Copenhagen, Rigshospitalet, Kennedy Center · ORCID：0000-0002-7402-9100

发表论文 195 篇 · 总被引 7855 次 · h-index 46

代表论文

• Cornelia de Lange syndrome (2014 · Clinical Genetics · 被引 229)
• Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy (2019 · Scientific Reports · 被引 124)
• Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome (2014 · European Journal of Human Genetics · 被引 71)
• Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders (2013 · Frontiers in Genetics · 被引 56)
• A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 (2019 · Scientific Reports · 被引 47)
• Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes (2018 · The American Journal of Human Genetics · 被引 47)