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Mechanisms underlying structural variant formation in genomic disorders

Nature reviews. Genetics, 2016-04, Vol.17 (4), p.224-238

2016

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Complex human chromosomal and genomic rearrangements

Trends in genetics, 2009-07, Vol.25 (7), p.298-307

2009

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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

PLoS genetics, 2019-02, Vol.15 (2), p.e1007858-e1007858

2019

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Detection of mosaic and population-level structural variants with Sniffles2

Nature biotechnology, 2024-01, Vol.42 (10), p.1571-1580

2024

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

American journal of human genetics, 2016-08, Vol.99 (2), p.318-336

2016

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Mechanisms for recurrent and complex human genomic rearrangements

Current opinion in genetics & development, 2012-06, Vol.22 (3), p.211-220

2012

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Mechanisms for Complex Chromosomal Insertions

PLoS genetics, 2016-11, Vol.12 (11), p.e1006446

2016

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

PLoS genetics, 2013-03, Vol.9 (3), p.e1003358

2013

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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

PLoS genetics, 2015-03, Vol.11 (3), p.e1005050

2015

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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

American journal of human genetics, 2016-03, Vol.98 (3), p.553-561

2016

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Replicative mechanisms for CNV formation are error prone

Nature genetics, 2013-11, Vol.45 (11), p.1319-1326

2013

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

American journal of human genetics, 2014-05, Vol.94 (5), p.745-754

2014

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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

American journal of human genetics, 2013-08, Vol.93 (2), p.357-367

2013

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Complex genomic rearrangements: an underestimated cause of rare diseases

Trends in genetics, 2022-11, Vol.38 (11), p.1134-1146

2022

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

American journal of human genetics, 2018-08, Vol.103 (2), p.171-187

2018

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Nature genetics, 2011-11, Vol.43 (11), p.1074-1081

2011

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Human molecular genetics, 2009-06, Vol.18 (12), p.2188-2203

2009

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A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Cell, 2007-12, Vol.131 (7), p.1235-1247

2007

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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Human molecular genetics, 2015-07, Vol.24 (14), p.4061-4077

2015

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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations

Chromosome research, 2024-03, Vol.32 (2), p.6, Article 6

2024

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Cannabis induced psychosis: A systematic review on the role of genetic polymorphisms

Pharmacological research, 2022-07, Vol.181, p.106258-106258, Article 106258

2022

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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

American journal of human genetics, 2007-04, Vol.80 (4), p.633-649

2007

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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Annals of neurology, 2009-12, Vol.66 (6), p.771-782

2009

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic acids research, 2024-02

2024

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Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

American journal of human genetics, 2015-04, Vol.96 (4), p.555-564

2015

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Mechanisms underlying structural variant formation in genomic disorders

Complex human chromosomal and genomic rearrangements

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

Detection of mosaic and population-level structural variants with Sniffles2

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Mechanisms for recurrent and complex human genomic rearrangements

Mechanisms for Complex Chromosomal Insertions

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Replicative mechanisms for CNV formation are error prone

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Complex genomic rearrangements: an underestimated cause of rare diseases

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations

Cannabis induced psychosis: A systematic review on the role of genetic polymorphisms

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

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