Mathilde F Lauridsen

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.