Sophia Frentz

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies

S. Robertson, M. Hannibal, J. Pilch, 2018, Human mutation.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

E. Zackai, S. Robertson, J. Graham, 2012, European Journal of Human Genetics.

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes

S. Robertson, J. Morton, A. Sutherland-Smith, 2016, American journal of medical genetics. Part A.

Gender Inclusive Methods in Studies of STEM Practitioners

K. Rasmussen, C. Olsen, Vic Zamloot, 2023, 2307.15802.