Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 (Q36083125)

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30 January 2020

title

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 (English)

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30 January 2020

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30 January 2020

Avinash V Dharmadhikari

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30 January 2020

James R Lupski

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30 January 2020

Pawel Stankiewicz

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30 January 2020

Sung-Hae L Kang

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30 January 2020

Tyler E Reimschisel

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30 January 2020

Patricia I Bader

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30 January 2020

Sau Wai Cheung

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30 January 2020

Siddharth K Prakash

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30 January 2020

Misti Williams

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30 January 2020

Vickie Hannig

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30 January 2020

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author name string

Przemyslaw Szafranski

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30 January 2020

Richard E Person

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Srirangan Sampath

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30 January 2020

John A Phillips

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30 January 2020

Sherry S Vinson

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30 January 2020

Angus A Wilfong

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30 January 2020

William J Craigen

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Ankita Patel

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30 January 2020

Weimin Bi

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publication date

27 April 2012

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30 January 2020

published in

Human Molecular Genetics

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30 January 2020

volume

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issue

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30 January 2020

page(s)

3345-3355

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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

30 January 2020

cites work

1 reference

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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

2 October 2017

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SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder

2 October 2017

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Integrated genome-wide association study findings: identification of a neurodevelopmental network for attention deficit hyperactivity disorder

2 October 2017

1 reference

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A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

2 October 2017

1 reference

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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

2 October 2017

1 reference

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Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

2 October 2017

1 reference

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Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity Disorder

2 October 2017

1 reference

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Family-based genome-wide association scan of attention-deficit/hyperactivity disorder

2 October 2017

1 reference

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Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

2 October 2017

1 reference

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

2 October 2017

1 reference

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On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls

2 October 2017

1 reference

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

2 October 2017

1 reference

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Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families

2 October 2017

1 reference

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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Origins and functional impact of copy number variation in the human genome

2 October 2017

1 reference

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

2 October 2017

1 reference

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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

2 October 2017

1 reference

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Candidate gene studies of ADHD: a meta-analytic review

2 October 2017

1 reference

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Genomic disorders ten years on.

2 October 2017

1 reference

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

2 October 2017

1 reference

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Population analysis of large copy number variants and hotspots of human genetic disease

2 October 2017

1 reference

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

2 October 2017

1 reference

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Genome-wide association scan of attention deficit hyperactivity disorder

2 October 2017

1 reference

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Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies

2 October 2017

1 reference

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Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

2 October 2017

1 reference

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

2 October 2017

1 reference

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Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

2 October 2017

1 reference

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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.

2 October 2017

1 reference

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The evolutionarily conserved G protein-coupled receptor SREB2/GPR85 influences brain size, behavior, and vulnerability to schizophrenia

2 October 2017

1 reference

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

2 October 2017

1 reference

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Association between microdeletion and microduplication at 16p11.2 and autism

2 October 2017

1 reference

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Germ-line DNA copy number variation frequencies in a large North American population

2 October 2017

1 reference

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A meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention deficit hyperactivity disorder

2 October 2017

1 reference

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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

2 October 2017

1 reference

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The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes

2 October 2017

1 reference

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Association of poly-purine/poly-pyrimidine sequences with meiotic recombination hot spots

2 October 2017

1 reference

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Molecular genetics of attention-deficit/hyperactivity disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392111

Nine new human Rhodopsin family G-protein coupled receptors: identification, sequence characterisation and evolutionary relationship

2 October 2017

1 reference

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Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes

2 October 2017

1 reference

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Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype

2 October 2017

1 reference

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2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

2 October 2017

1 reference

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Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes

2 October 2017

1 reference

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Meta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorder

2 October 2017

1 reference

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Asef, a link between the tumor suppressor APC and G-protein signaling

2 October 2017

1 reference

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Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22

2 October 2017

1 reference

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Evectins: vesicular proteins that carry a pleckstrin homology domain and localize to post-Golgi membranes

2 October 2017

1 reference

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Canavan disease: mutations among Jewish and non-Jewish patients

2 October 2017

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The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients

2 October 2017

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Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

2 October 2017

1 reference

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Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

23 September 2018

1 reference

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A common sequence motif associated with recombination hot spots and genome instability in humans

23 September 2018

1 reference

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Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.

23 September 2018

1 reference

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Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD).

23 September 2018

1 reference

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Meta-analysis of family-based association studies between the dopamine transporter gene and attention deficit hyperactivity disorder

23 September 2018

1 reference

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22543972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression patterns of the Wtx/Amer gene family during mouse embryonic development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22543972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22543972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22543972%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22543972%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

22543972

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22543972%20AND%20SRC:MED&resulttype=core&format=json