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Molecular genetics of 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2070-2081

2018

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Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

American journal of human genetics, 2015-02, Vol.96 (2), p.235-244

2015

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Chromosomal translocations and palindromic AT-rich repeats

Current opinion in genetics & development, 2012-06, Vol.22 (3), p.221-228

2012

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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

American journal of human genetics, 2015-12, Vol.97 (6), p.869-877

2015

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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data

PLoS computational biology, 2021-11, Vol.17 (11), p.e1009594-e1009594

2021

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Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

Developmental disabilities research reviews, 2008, Vol.14 (1), p.11-18

Emanuel, Beverly S.

2008

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

Nature reviews. Genetics, 2007-11, Vol.8 (11), p.869-883

2007

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Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Human molecular genetics, 2018-06, Vol.27 (11), p.1847-1857

2018

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Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Nature communications, 2013, Vol.4 (1), p.1592, Article 1592

2013

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Mammalian TIMELESS and Tipin are Evolutionarily Conserved Replication Fork-associated Factors

Journal of molecular biology, 2007-02, Vol.366 (1), p.36-52

2007

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Subthreshold Psychotic Symptoms in 22q11.2 Deletion Syndrome

Journal of the American Academy of Child and Adolescent Psychiatry, 2014-09, Vol.53 (9), p.991-1000.e2

2014

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Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

Genes, 2023-01, Vol.14 (1), p.62

2023

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The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome

Journal of psychiatric research, 2017-09, Vol.92, p.124-131

2017

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A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

Genes, 2022-09, Vol.13 (9), p.1668

2022

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Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

American journal of human genetics, 2013-03, Vol.92 (3), p.439-447

2013

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Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

Brain and cognition, 2016-07, Vol.106, p.33-41

2016

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Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

Genome Research, 2007-04, Vol.17 (4), p.482-491

2007

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Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

Genes, 2022-10, Vol.13 (10), p.1800

2022

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Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

Brain and behavior, 2021-08, Vol.11 (8), p.e2221-n/a

2021

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Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Molecular autism, 2017-10, Vol.8 (1), p.58-17, Article 58

2017

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Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

Genes, 2021-07, Vol.12 (7), p.1030

2021

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High-Resolution Mapping of DNA Copy Alterations in Human Chromosome 22 Using High-Density Tiling Oligonucleotide Arrays

Proceedings of the National Academy of Sciences - PNAS, 2006-03, Vol.103 (12), p.4534-4539

2006

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Molecular genetics of 22q11.2 deletion syndrome

Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

Chromosomal translocations and palindromic AT-rich repeats

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data

Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Mammalian TIMELESS and Tipin are Evolutionarily Conserved Replication Fork-associated Factors

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Subthreshold Psychotic Symptoms in 22q11.2 Deletion Syndrome

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

High-Resolution Mapping of DNA Copy Alterations in Human Chromosome 22 Using High-Density Tiling Oligonucleotide Arrays

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