Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis

(2011) Russell C. Dale et al.   MOVEMENT DISORDERS

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Clinical/Scientific Notes

(2011) R. C. Dale et al.   NEUROLOGY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

(2010) Maria C Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The monogenic primary dystonias

(2009) U. Muller   BRAIN

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD

(2009) J. Lipton et al.   NEUROLOGY

Myoclonus-dystonia: significance of largeSGCEdeletions

(2008) A. Grünewald et al.   HUMAN MUTATION

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE