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Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

International journal of molecular sciences, 2019-03, Vol.20 (6), p.1459

2019

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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Neurogenetics, 2018-05, Vol.19 (2), p.111-121

2018

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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

International journal of molecular sciences, 2022-11, Vol.23 (21), p.12900

2022

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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Frontiers in genetics, 2024-02, Vol.14, p.1315291

2024

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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

International journal of molecular sciences, 2021-01, Vol.22 (2), p.750

2021

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Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome

Genes, 2024-01, Vol.15 (1), p.103

2024

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Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

Heliyon, 2020-10, Vol.6 (10), p.e05143-e05143, Article e05143

2020

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Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

Biomolecules (Basel, Switzerland), 2023-04, Vol.13 (5), p.725

2023

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A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Canadian journal of cardiology, 2014-12, Vol.30 (12), p.1649-1654

2014

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7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

Genes, 2020-05, Vol.11 (5), p.525

2020

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Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.182-183

2017

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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Journal of cardiovascular development and disease, 2022-09, Vol.9 (10), p.332

2022

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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Clinical case reports, 2021-01, Vol.9 (1), p.314-321

2021

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Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e896-n/a

2019

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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.36-36, Article 36

2011

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Copy number variants in autism spectrum disorders

Progress in neuro-psychopharmacology & biological psychiatry, 2019-06, Vol.92, p.421-427

2019

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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

European journal of paediatric neurology, 2013-11, Vol.17 (6), p.589-599

2013

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Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions

American journal of medical genetics. Part A, 2024-03, p.e63580-e63580

2024

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Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders

Psychiatric genetics, 2021-12, Vol.31 (6), p.239

2021

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PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.3014-3022

2020

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Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

Annals of human genetics, 2019-03, Vol.83 (2), p.100-109

2019

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Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.242-249

2021

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Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

Neurological sciences, 2020-12, Vol.41 (12), p.3751-3753

2020

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A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1615-1621

2019

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An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2781-2786

2018

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Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome

Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Copy number variants in autism spectrum disorders

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders

PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome

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