Search | Genome Research

CL_GR_Clone_LBSite

Your search for returned 3 results

Research

Optical genome mapping identifies rare structural variants in neural tube defects

Nikhil S. Sahajpal
Jane Dean
Benjamin Hilton
Timothy Fee
Cindy Skinner
Alex Hastie
... [+1 authors] ...,
Barbara R. DuPont
Alka Chaubey
Michael J. Friez
Roger E. Stevenson

First Published March 19, 2025

LETTER

MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair" > Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters
Hilde Van Esch
Michael J. Friez
Odile Boespflug-Tanguy
Martin Zenker
Angela M. Vianna-Morgante Carla Rosenberg Jaakko Ignatius Martine Raynaud Karen Hollanders Karen Govaerts Kris Vandenreijt Florence Niel Pierre Blanc Roger E. Stevenson
... [+10 authors] ...,
Jean-Pierre Fryns
Peter Marynen
Charles E. Schwartz
Guy Froyen

First Published April 2, 2008

Methods

PLP2 promoter polymorphism enriched in patients with X-linked mental retardation" > X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

Lilei Zhang
Chunfa Jie
Cassandra Obie
Fatima Abidi
Charles E. Schwartz
Roger E. Stevenson
David Valle
Tao Wang

First Published April 6, 2007