R. Shaw

Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis

S. Topper, D. del Gaudio, K. Arndt, 2016, Clinical genetics.

Clinical guideline variability in the diagnosis and care of people at risk for hereditary hematopoietic malignancy syndromes

M. Acevedo, M. Drazer, G. Roloff, 2023, medRxiv.

Familial impairment of vocal cord mobility in childhood with clubfoot

J. Ludemann, A. Lehman, R. Rupps, 2018, Clinical dysmorphology.