R
Richard Leach
Publications - 1
Citations - 1002
Richard Leach is an academic researcher. The author has contributed to research in topics: Copy-number variation & Exome sequencing. The author has an hindex of 1, co-authored 1 publications receiving 874 citations.
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Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Maartje van de Vorst,Bregje W.M. van Bon,Marjolein H. Willemsen,Michael Kwint,Irene M. Janssen,Alexander Hoischen,Annette Schenck,Richard Leach,Robert C. Klein,Rick Tearle,Tan Bo,Rolph Pfundt,Helger G. Yntema,Bert B.A. de Vries,Tjitske Kleefstra,Han G. Brunner,Lisenka E.L.M. Vissers,Joris A. Veltman +20 more
TL;DR: Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.