Author details

Full Name

Giovanni Battista Ferrero

Affiliation

ORCID

Career Start Year

1990

Papers

160

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35256403	Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.	Journal of Medical Genetics	2023
35979925	CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.	Brain	2023
37673932	Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.	Eur J Hum Genet	2023
37813867	Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.	Nat Commun	2023
37802085	Electroclinical Features of Epilepsy in Kleefstra Syndrome.		2023
37403762	Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.	Genet Med	2023
36765732	Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.		2023
37398376	Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.	medRxiv	2023
37395289	The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.		2023
37138575	Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.		2023
36879111	Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.	Eur J Hum Genet	2023
37120726	DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.	Genet Med	2023
37041138	Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.	Nat Commun	2023
33323470	Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.	J Med Genet	2022
35772801	Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.	AJNR Am J Neuroradiol	2022
35842840	Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.	Clinical Genetics	2022
35904974	Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.	Am J Med Genet A	2022
35575813	Epilepsy in a cohort of children with Noonan syndrome and related disorders.	European Journal of Pediatrics	2022
35999193	Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.	Genes Chromosomes Cancer	2022
36135330	Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.	Am J Med Genet A	2022
35982160	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nat Genet	2022
35778969	Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.	Genes Chromosomes and Cancer	2022
36461154	Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics	2022
34269737	Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome.	Journal of Developmental and Behavioral Pediatrics	2022
35052347	MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.	Genes (Basel)	2021
34281283	Ineffective Erythropoiesis in Î²-Thalassaemia: Key Steps and Therapeutic Options by Drugs.	International Journal of Molecular Sciences	2021
33675273	Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.	Am J Med Genet A	2021
33465347	Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.	Journal of Pediatrics	2021
33506498	A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.	Clinical Genetics	2021
34028980	Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.	Pediatric Blood and Cancer	2021
34184188	Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS).	Endocrine	2021
33296143	Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).	American Journal of Medical Genetics, Part A	2021
32631848	Bowel loop sign in a newborn.	Archives of Disease in Childhood: Fetal and Neonatal Edition	2021
33115931	Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.	Journal of Medical Genetics	2021
34402524	Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.	Clinical Genetics	2021
34944785	Lateralized and Segmental Overgrowth in Children.	Cancers	2021
35002956	Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.	Frontiers in Endocrinology	2021
30968677	Syndromic Disorders Caused by Disturbed Human Imprinting	JCRPE Journal of Clinical Research in Pediatric Endocrinology	2020
32424177	Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.	Genet Med	2020
31558381	Esophageal duplication cyst in newborn.	Pediatrics and Neonatology	2020
33126574	New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.	Brain Sciences	2020
32558384	Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.	Birth Defects Research	2020
33268356	Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.	Sci Adv	2020
33052010	Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome.	American Journal of Medical Genetics, Part A	2020
30825388	NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.	Hum Mutat	2019
31583434	The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.	Journal of Cancer Research and Clinical Oncology	2019
31749829	Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.	Frontiers in Genetics	2019
30270492	Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome.	Pediatric Blood and Cancer	2019
30646549	Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwithâ»Wiedemann Syndrome.	Cancers	2019
30635621	Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.	Genetics in Medicine	2019