Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

(2013) Joo Wook Ahn et al.   Molecular Cytogenetics

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism

(2012) Irene Madrigal et al.   GENE

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features

(2012) Ahmed T. Abdelmoity et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

(2012) Ozlem Bozdagi et al.   PLoS One

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

(2010) C. von der Lippe et al.   European Journal of Medical Genetics

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

(2010) Joo Wook Ahn et al.   Molecular Cytogenetics

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

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

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

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

(2009) Hilda T.H. Tsang et al.   HUMAN MOLECULAR GENETICS

In vivo analysis of the functions of  -tubulin-complex proteins

(2009) Y. Xiong et al.   JOURNAL OF CELL SCIENCE

Functional characterization of NIPA2, a selective Mg2+ transporter

(2008) Angela Goytain et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE