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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

The Journal of pathology, 2017-09, Vol.243 (1), p.9-15

2017

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Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders

Genes, 2022-02, Vol.13 (2), p.335

2022

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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

PLoS genetics, 2021-06, Vol.17 (6), p.e1009608-e1009608

2021

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Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

Human genetics, 2022-02, Vol.141 (2), p.283-293

2022

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The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene

Genes, 2024-06, Vol.15 (6), p.654

2024

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

Neurogenetics, 2022, Vol.23 (1), p.81-81

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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Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

Italian journal of pediatrics, 2021-02, Vol.47 (1), p.31-31, Article 31

2021

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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.69-69, Article 69

2017

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Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

Italian journal of pediatrics, 2021-09, Vol.47 (1), p.1-185, Article 185

2021

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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, 2024-02, p.e32976-e32976

2024

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Optical coherence tomography angiography findings in Williams-Beuren syndrome

Graefe's archive for clinical and experimental ophthalmology, 2024-04, Vol.262 (4), p.1131-1140

2024

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Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1586-1592

2023

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505 A NEW NEXN GENE VARIANT LEADING TO FOETAL ONSET MIXED PHENOTYPE CARDIOMYOPATHY WITH UNKNOWN PROGNOSIS

European heart journal supplements, 2022-12, Vol.24 (Supplement_K)

2022

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Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings

Prenatal diagnosis, 2022-11, Vol.42 (12), p.1493-1502

2022

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Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.605-611

2023

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Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

Prenatal diagnosis, 2022-06, Vol.42 (7), p.927-933

2022

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BCAP31-related syndrome: The first de novo report

European journal of medical genetics, 2020-02, Vol.63 (2), p.103732-103732, Article 103732

2020

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Developmental trends of communicative skills in children with chromosome 14 aberrations

European journal of pediatrics, 2017-04, Vol.176 (4), p.455-464

2017

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Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

Molecular psychiatry, 2022-10, Vol.27 (10), p.4092-4102

2022

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Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

Clinical genetics, 2023-08, Vol.104 (2), p.230-237

2023

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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

European journal of medical genetics, 2023-07, Vol.66 (7), p.104784-104784, Article 104784

2023

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.694-701

2017

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Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

European journal of medical genetics, 2020-05, Vol.63 (5), p.103875-103875, Article 103875

2020

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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene

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

Correction to: 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

Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

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

Optical coherence tomography angiography findings in Williams-Beuren syndrome

Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

505 A NEW NEXN GENE VARIANT LEADING TO FOETAL ONSET MIXED PHENOTYPE CARDIOMYOPATHY WITH UNKNOWN PROGNOSIS

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

BCAP31-related syndrome: The first de novo report

Developmental trends of communicative skills in children with chromosome 14 aberrations

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

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