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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.88-98

2021

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ZC4H2 deletions can cause severe phenotype in female carriers

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1358-1363

2017

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Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1257-1261

2016

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Perthes disease: A new finding in Floating‐Harbor syndrome

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.703-706

2018

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Human mutation, 2020-06, Vol.41 (6), p.1183-1183

2020

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Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Neurogenetics, 2022-01, Vol.23 (1), p.27-35

2022

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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology

Genes & Genomics, 2023, 45(5), , pp.637-655

2023

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16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

European journal of medical genetics, 2017-03, Vol.60 (3), p.159-162

2017

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A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1427-1431

2018

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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

BMC medical genomics, 2018-09, Vol.11 (1), p.87-87, Article 87

2018

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Unexpected phenotype in a frameshift mutation of PTCH1

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e987-n/a

2020

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Molecular cytogenetics, 2018-09, Vol.11 (1), p.53-8, Article 53

2018

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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.317-323

2010

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Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

Neurogenetics, 2023-07, Vol.24 (3), p.181-188

2023

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CATSHL syndrome, a new family and phenotypic expansion

Clinical genetics, 2024-03, Vol.105 (3), p.313-316

2024

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Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2024-09, Vol.195 (6), p.e32976-n/a

2024

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Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

European journal of medical genetics, 2019-12, Vol.62 (12), p.103596-103596, Article 103596

2019

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Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Human genetics, 2017-10, Vol.136 (10), p.1329-1339

2017

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.183-190

2016

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Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies

Human genetics, 2024-06, Vol.143 (6), p.747-759

2024

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Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.3071-3073

2020

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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1233-1238

2022

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Nature genetics, 2006-05, Vol.38 (5), p.528-530

2006

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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.648-653

2023

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New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

Cytogenetic and genome research, 2018-01, Vol.156 (3), p.127-133

2018

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

ZC4H2 deletions can cause severe phenotype in female carriers

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

Perthes disease: A new finding in Floating‐Harbor syndrome

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

Unexpected phenotype in a frameshift mutation of PTCH1

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

CATSHL syndrome, a new family and phenotypic expansion

Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies

Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

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