The complex behavioral phenotype of 15q13.3 microdeletion syndrome

The human clinical phenotypes of altered CHRNA7 copy number

(2015) Madelyn A. Gillentine et al.   BIOCHEMICAL PHARMACOLOGY

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

(2014) Chelsea Lowther et al.   GENETICS IN MEDICINE

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

(2013) I. Ionita-Laza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype

(2012) N Hoppman-Chaney et al.   CLINICAL GENETICS

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

(2011) Jun Liao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

(2011) Joseph F. Cubells et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

(2011) Nigel M. Williams et al.   AMERICAN JOURNAL OF PSYCHIATRY

Targeting the nicotinic alpha7 acetylcholine receptor to enhance cognition in disease

(2011) Tanya L. Wallace et al.   BIOCHEMICAL PHARMACOLOGY

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

(2011) Larissa R Stewart et al.   BMC Medical Genetics

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

(2011) Jill A Rosenfeld et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

(2011) Malte Spielmann et al.   European Journal of Medical Genetics

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

(2011) Trilochan Sahoo et al.   GENETICS IN MEDICINE

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Cholinergic Abnormalities in Autism

(2010) Stephen I. Deutsch et al.   CLINICAL NEUROPHARMACOLOGY

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

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

(2010) Stormy J. Chamberlain et al.   NEUROBIOLOGY OF DISEASE

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS