Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons

Visualization of Fine-Scale Genomic Structure by Oligonucleotide-Based High-Resolution FISH

(2011) N.A. Yamada et al.   CYTOGENETIC AND GENOME RESEARCH

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

(2011) Z. Ou et al.   GENOME RESEARCH

Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis

(2010) Takeo Kato et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

GenBank

(2010) D. A. Benson et al.   NUCLEIC ACIDS RESEARCH

Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome

(2010) Ariel M. Pani et al.   PLoS One

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

(2010) Nicholas J Neill et al.   Molecular Cytogenetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2

(2009) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

(2008) Yong-hui Jiang et al.   BMC GENOMICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS