Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng, Yu-Wei; Tan, Christopher A; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K; Kozel, Beth A; Robin, Nathaniel H; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Del Gaudio, Daniela.

Afiliação

Cheng YW; Department of Human Genetics, University of Chicago Chicago, Illinois.
Tan CA; Department of Human Genetics, University of Chicago Chicago, Illinois.
Minor A; Department of Pathology, University of Chicago Chicago, Illinois.
Arndt K; Department of Human Genetics, University of Chicago Chicago, Illinois.
Wysinger L; Department of Human Genetics, University of Chicago Chicago, Illinois.
Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.
Kozel BA; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.
Robin NH; Department of Genetics, University of Alabama at Birmingham Birmingham, Alabama.
Waggoner D; Department of Human Genetics, University of Chicago Chicago, Illinois.
Fitzpatrick C; Department of Pathology, University of Chicago Chicago, Illinois.
Das S; Department of Human Genetics, University of Chicago Chicago, Illinois.
Del Gaudio D; Department of Human Genetics, University of Chicago Chicago, Illinois.