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Research

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Philip M. Boone
Ian M. Campbell
Brett C. Baggett
Zachry T. Soens
Mitchell M. Rao
Patricia M. Hixson Ankita Patel Weimin Bi Sau Wai Cheung Seema R. Lalani
... [+5 authors] ...,
Arthur L. Beaudet
Pawel Stankiewicz
Chad A. Shaw
James R. Lupski

First Published May 16, 2013

Research

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Piotr Dittwald
Tomasz Gambin
Przemyslaw Szafranski
Jian Li
Stephen Amato
Michael Y. Divon Lisa Ximena Rodríguez Rojas Lindsay E. Elton Daryl A. Scott Christian P. Schaaf Wilfredo Torres-Martinez Abby K. Stevens Jill A. Rosenfeld Satish Agadi David Francis Sung-Hae L. Kang Amy Breman Seema R. Lalani Carlos A. Bacino Weimin Bi Aleksandar Milosavljevic Arthur L. Beaudet Ankita Patel Chad A. Shaw
... [+19 authors] ...,
James R. Lupski
Anna Gambin
Sau Wai Cheung
Pawel Stankiewicz

First Published May 8, 2013

Methods

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Daniel A. Peiffer
Jennie M. Le
Frank J. Steemers
Weihua Chang
Tony Jenniges
Francisco Garcia Kirt Haden Jiangzhen Li Chad A. Shaw John Belmont
... [+5 authors] ...,
Sau Wai Cheung
Richard M. Shen
David L. Barker
Kevin L. Gunderson

First Published August 9, 2006