Tina Duelund Hjortshøj

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp et al. · Human Mutation · 2010 · 77 citations

Novel Sequence Variations, Complex Trait Genetics, Quantitative Genetics +14

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

Maria Rasmussen, Lone Sunde, Marlene Louise Nielsen et al. · Clinical Genetics · 2017 · 62 citations · Full text

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Lusine Nazaryan‐Petersen, Jesper Eisfeldt, Maria Pettersson et al. · PLoS Genetics · 2018 · 39 citations · Full text

Wgs Characterization, Genetics, Genomic Mechanism +20