E. Hammar

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Marco Emilio Poleggi, S. Antonarakis, S. Gimelli, 2016, Human Genomics.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

M. Abramowicz, N. Guinand, C. Gehrig, 2021, Genes.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

S. Gimelli, A. Mauron, F. Santoni, 2016, Human Genomics.

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

R. Hà-Vinh Leuchter, M. Abramowicz, A. Vannier, 2021, Clinical genetics.