Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P.
Clin Genet
http://www.ncbi.nlm.nih.gov/pubmed/31309540
96(4):366-370
https://connects.catalyst.harvard.edu/Profiles/profile/240855770