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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Frontiers in genetics, 2023-09, Vol.14

2023

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Human mutation, 2019-02, Vol.40 (2), p.193-200

2019

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Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association

BMC medical genomics, 2022-12, Vol.15 (1), p.266-266, Article 266

2022

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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Genes & Genomics, 2023, 45(4), , pp.491-505

2023

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Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.757-761

2013

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Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.915-919

2011

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1025-1032

2015

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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

American journal of human genetics, 2001-08, Vol.69 (2), p.261-268

2001

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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

Molecular cytogenetics, 2020-06, Vol.13 (1), p.22-8, Article 22

2020

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Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

Annals of clinical and translational neurology, 2021-12, Vol.8 (12), p.2280-2288

2021

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DNA methylation regulates tissue-specific expression of Shank3

Journal of neurochemistry, 2007-06, Vol.101 (5), p.1380-1391

2007

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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00496-n/a

2019

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Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Pediatric neurology, 2006-03, Vol.34 (3), p.186-193

2006

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A familial inverted duplication deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications

European journal of human genetics : EJHG, 2009-02, Vol.17 (2), p.179-186

2009

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De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

PloS one, 2012-06, Vol.7 (6), p.e39180

2012

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The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

European journal of medical genetics, 2022-08, Vol.65 (8), p.104532-104532, Article 104532

2022

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Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.920-927

2024

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Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion

European journal of medical genetics, 2022-11, Vol.65 (11), p.104596, Article 104596

2022

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Role of mycotoxins in the pathobiology of autism: A first evidence

Nutritional neuroscience, 2019-02, Vol.22 (2), p.132-144

2019

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Journal of medical genetics, 2006-10, Vol.43 (10), p.822-828

2006

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Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing

Cerebellum (London, England), 2022-12, Vol.21 (6), p.1144-1150

2022

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

PLoS genetics, 2011-07, Vol.7 (7), p.e1002173

2011

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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Genes & genomics, 2023-04, p.491-505

2023

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A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

Molecular cytogenetics, 2014-08, Vol.7 (1), p.53-53

2014

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Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

European journal of medical genetics, 2018-05, Vol.61 (5), p.248-252

2018

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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association

Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

DNA methylation regulates tissue-specific expression of Shank3

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

A familial inverted duplication deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion

Role of mycotoxins in the pathobiology of autism: A first evidence

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

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