Eleanor Scimone

Aug 7, 2024 | cell.com | Katherine Wood |R Spencer Tong |Eleanor Scimone |Mass General Brigham

SummaryWhile it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These “selfish” mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father’s age, and high apparent germline mutation rate.

May 23, 2024 | onlinelibrary.wiley.com | Angela Lin |Eleanor Scimone |Robyn P. Thom |Duraisamy Balaguru

1 INTRODUCTION Since the first description in two unrelated male patients (Myhre et al., 1981), Myhre syndrome (MIM #139210, ORPHA #2588) has been increasingly recognized as a distinctive short stature syndrome with a recognizable facial appearance, hearing loss, and progressive abnormalities of the cardiovascular system, upper airway, lungs, skin, bones, and joints.