American journal of human genetics Holly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, …, Annette Schenck, Evan E Eichler, Tjitske Kleefstra DOI: 10.1016/j.ajhg.2016.02.004 PMID: 26942287 PMCID: PMC4890241