G. Ferrero

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2019, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Stephan J Sanders, Alicia R. Martin, K. Roeder, 2018, Cell.

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2018, bioRxiv.

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Alexandre Reymond, Giuseppe Merla, C. Howald, 2010, European Journal of Human Genetics.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

G. Ferrero, M. Silengo, E. Biamino, 2008, European journal of medical genetics.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height

M. Maghnie, M. Digilio, G. Ferrero, 2021, Frontiers in Endocrinology.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Birth Defects Research.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, International journal of cardiology.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

M. Digilio, B. Gelb, B. Dallapiccola, 2009, Human mutation.

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation

M. Tartaglia, G. Ferrero, M. Silengo, 2014, American journal of medical genetics. Part A.

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

J. Buxbaum, T. Pippucci, A. Bruselles, 2020, Journal of Medical Genetics.

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.

I. Dianzani, G. Ferrero, E. Garelli, 2006, European journal of medical genetics.

A novel H208D TP63 mutation in a familial case of ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome without clefting

G. Ferrero, M. Silengo, E. Biamino, 2009, Clinical and experimental dermatology.

Lateralized and Segmental Overgrowth in Children

G. Ferrero, A. Mussa, D. Carli, 2021, Cancers.

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.

J. Weissenbach, D. Schlessinger, G. Borsani, 1995, Human molecular genetics.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Periventricular nodular heterotopia in Smith‐Magenis syndrome

P. Striano, V. Capra, R. Biancheri, 2014, American journal of medical genetics. Part A.

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

A. C. Chinault, A. Ballabio, H. Zoghbi, 1993, Human molecular genetics.

“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

G. Ferrero, A. Mussa, D. Carli, 2021, Endocrine.

Syndromic Disorders Caused by Disturbed Human Imprinting

G. Ferrero, E. Riberi, A. Mussa, 2020, Journal of clinical research in pediatric endocrinology.

Syndromic Disorders Caused by Disturbed Human Imprinting

G. Ferrero, E. Riberi, A. Mussa, 2020, Journal of clinical research in pediatric endocrinology.

The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients

U. Barbero, G. Ferrero, A. Piga, 2021, Journal of Cardiovascular Development and Disease.

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

G. Ferrero, A. Selicorni, A. Mussa, 2019, Front. Genet..

Luspatercept for the treatment of β-thalassemia: from preclinical research to clinical practice and beyond

G. Ferrero, A. Piga, F. Longo, 2021, Future Rare Diseases.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

A. Brusco, G. Ferrero, E. Giorgio, 2014, Molecular Cytogenetics.

Subcortical band heterotopia with simplified gyral pattern and syndactyly

R. Guerrini, F. Sicca, G. Ferrero, 2003, American journal of medical genetics. Part A.

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

G. Ferrero, A. Mussa, D. Carli, 2020, Journal of Medical Genetics.

The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

J. Kalish, G. Brodeur, G. Ferrero, 2019, Journal of Cancer Research and Clinical Oncology.

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

G. Ferrero, A. Mussa, L. Larizza, 2016, Clinical genetics.

Fetal growth patterns in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2016, Clinical genetics.

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.

G. Ferrero, E. Riberi, A. Mussa, 2016, The Journal of pediatrics.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

R. Brusati, R. Montirosso, G. Zampino, 2016, European journal of medical genetics.

Prevalence of beckwith–wiedemann syndrome in North West of Italy

L. Richiardi, G. Ferrero, A. Selicorni, 2013, American journal of medical genetics. Part A.

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

G. Ferrero, M. Silengo, A. Mussa, 2011, European Journal of Pediatrics.

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

L. Peruzzi, G. Ferrero, M. Silengo, 2012, Pediatric Nephrology.

Myocardial longitudinal strain as the first herald of cardiac impairment in very early iron overload state: an echocardiography and biosusceptometry study on beta-thalassemia patients.

U. Barbero, G. Ferrero, A. Piga, 2021, American journal of cardiovascular disease.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2022, Nature Genetics.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

A. Ballabio, P. Babyn, D. Bulman, 1996, Journal of medical genetics.

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum

G. Ferrero, A. Mussa, F. Fagioli, 2021, Clinical genetics.

A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth

G. Ferrero, A. Mussa, D. Carli, 2020, Clinical genetics.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

I. Dianzani, G. Ferrero, R. Cotton, 1991, Pediatric Research.

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

I. Dianzani, N. Blau, G. Ferrero, 1990, Journal of Inherited Metabolic Disease.

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).

J. Weissenbach, D. Le Paslier, A. Ballabio, 1995, Genomics.

Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

G. Ferrero, M. Silengo, F. Faravelli, 2006, American journal of medical genetics. Part A.

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

I. Dianzani, R. Cotton, G. Saglio, 1993, Journal of medical genetics.

Progressive extreme heterotopic calcification

R. Hennekam, M. Tartaglia, A. Brusco, 2013, American journal of medical genetics. Part A.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

H. Zoghbi, A. Baldini, M. Grompe, 1994, American journal of medical genetics.

Haplotype distribution and molecular defects of PKU in Italy

M. Devoto, I. Dianzani, G. Saglio, 1990, Journal of Inherited Metabolic Disease.

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

M. Devoto, I. Dianzani, G. Saglio, 1990, Human Genetics.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

E. Roeder, A. Vanderver, M. Tartaglia, 2022, American Journal of Neuroradiology.

Newborn feeding and screening for phenylketonuria

R. Ponzone, G. Ferrero, M. Spada, 1999, Acta paediatrica.

Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring

G. Ferrero, A. Piga, F. Longo, 2021, Scientific Reports.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome

Mackay, Z. Tümer, P. Lapunzina, 2018 .

Epilepsy in a cohort of children with Noonan syndrome and related disorders

B. Vitiello, G. Ferrero, A. Mussa, 2022, European Journal of Pediatrics.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis

T. Pippucci, G. Ferrero, M. Silengo, 2010, European Journal of Pediatrics.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

A. Brusco, G. Ferrero, E. Giorgio, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

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

R. Tenconi, V. Saletti, C. Leoni, 2022, Journal of Medical Genetics.

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts

E. Hirsch, G. Ferrero, M. Martini, 2017, Cancers.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

M. Carella, G. Ferrero, A. Mussa, 2017, Pediatrics.

Carbon 13 NMR spectra of pyridylbenz-X-azoles

G. Ferrero, E. Barni, P. Savarino, 1989 .

A high resolution deletion map of human chromosome Xp22

T. Mohandas, A. Ballabio, H. Zoghbi, 1993, Nature Genetics.

Remittent hyperammonemia in congenital portosystemic shunt

G. Ferrero, A. Veltri, M. Silengo, 2010, European Journal of Pediatrics.

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome.

G. Ferrero, M. Valenzise, M. Silengo, 2002, Clinical dysmorphology.

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

P. Scambler, R. Trembath, I. Casteels, 2003, Journal of medical genetics.

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

G. Ferrero, M. Silengo, A. Mussa, 2014, Pediatric Research.

Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs

G. Ferrero, A. Piga, F. Longo, 2021, International journal of molecular sciences.

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

G. Zampino, G. Ferrero, A. Mussa, 2019, American journal of medical genetics. Part A.

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Carlos S. Moreno, Carl Baker, Evan E. Eichler, 2011, PLoS genetics.

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2021, medRxiv.

Genomic Architecture of ASD

A. Brusco, G. Ferrero, 2019, Psychopathology in Adolescents and Adults with Autism Spectrum Disorders.

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

P. Bosco, C. Romano, I. Gandin, 2014, Genetics in Medicine.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

R. Hennekam, Z. Tümer, M. Kilby, 2018, Nature Reviews Endocrinology.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

C. Kanduri, M. Carella, M. Cubellis, 2011, Human molecular genetics.

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

P. Bosco, C. Romano, A. Morgan, 2015, Mutation research.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Constitutional bone impairment in Noonan syndrome

G. Ferrero, A. Mussa, D. Carli, 2017, American journal of medical genetics. Part A.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

A. Doria, L. Foglia, G. Ferrero, 2013, Oncology reports.

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

M. Genuardi, G. Ferrero, A. Renieri, 2017, Italian Journal of Pediatrics.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

V. Caputo, A. Bruselles, M. Tartaglia, 2016, American journal of medical genetics. Part A.

Array-CGH analysis in fetuses with major congenital malformations reveals that 24 % of cases have pathogenic deletions / duplications

B. Pasini, E. Gregorio, A. Brusco, 2016 .

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, A. Brusco, G. Ferrero, 2015, Cytogenetic and Genome Research.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

M. Fichera, S. Gimelli, P. Striano, 2012, Archives of neurology.

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

C. Laprise, F. Martínez, C. Greenwood, 2018, Biology of Sex Differences.

X-linked situs abnormalities result from mutations in ZIC3

D. Schlessinger, D. Nelson, M. Gebbia, 1997, Nature Genetics.

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Maria Vernucci, G. Ferrero, M. Silengo, 2004, Nature Genetics.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

I. Scheffer, B. D. de Vries, S. Fisher, 2022, medRxiv.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

A. Brusco, G. Ferrero, Lisa Pavinato, 2020, Brain sciences.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

M. Maghnie, M. Clementi, G. Ferrero, 2016, Clinical Epigenetics.

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

C. Leoni, G. Ferrero, G. Cocchi, 2023, Cancers.

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

C. Leoni, G. Ferrero, G. Cocchi, 2022, Clinical genetics.

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome

G. Ferrero, A. Mussa, D. Carli, 2019, Pathobiology.

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

M. Cubellis, G. Ferrero, A. Selicorni, 2015, European Journal of Human Genetics.

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.

G. Ferrero, A. Mussa, D. Carli, 2021, The Journal of pediatrics.

Nomenclature and definition in asymmetric regional body overgrowth

T. Druley, R. Hennekam, L. Biesecker, 2017, American journal of medical genetics. Part A.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

M. Maghnie, M. Clementi, G. Ferrero, 2016, Clinical Epigenetics.

Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.

M. Negrini, C. Schwienbacher, G. Ferrero, 2007, Human molecular genetics.

Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor"

G. Ferrero, M. Silengo, A. Riccio, 2005, Nature Genetics.

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome

J. Kalish, G. Ferrero, A. Mussa, 2019, Cancers.

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith‐Wiedemann syndrome

J. Kalish, G. Ferrero, A. Mussa, 2018, Pediatric blood & cancer.

Serum alpha‐fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome

G. Ferrero, A. Mussa, 2017, American journal of medical genetics. Part A.

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue.

G. Ferrero, A. Mussa, 2015, Journal of pediatric hematology/oncology.

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

R. Hennekam, T. Eggermann, C. Kratz, 2018, European Journal of Human Genetics.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

G. Ferrero, A. Mussa, D. Carli, 2022, Genes, chromosomes & cancer.

Bowel loop sign in a newborn

G. Ferrero, D. Carli, R. Guanà, 2020, Archives of Disease in Childhood.

Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele

G. Ferrero, A. Mussa, D. Carli, 2018, Journal of Assisted Reproduction and Genetics.

Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization.

G. Ferrero, A. Mussa, D. Carli, 2019, JAMA pediatrics.

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway

G. Ferrero, M. Ruggieri, A. Mussa, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

G. Andelfinger, C. Isella, E. Medico, 2021, Genes.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

G. Ferrero, S. Stenirri, L. Cremonesi, 2007, Clinical chemistry.

Malformations following methimazole exposure in utero: an open issue.

G. Ferrero, M. Silengo, L. Rosaia, 2003, Birth defects research. Part A, Clinical and molecular teratology.

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

L. Peruzzi, G. Ferrero, L. D. di Cantogno, 2007, European journal of medical genetics.

Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

G. Ferrero, A. Mussa, M. Bergui, 2020, American journal of medical genetics. Part A.

Case 1: An infant with heart failure (Case Presentation)

G. Ferrero, A. Pucci, F. Rutsch, 2009, Acta paediatrica.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

N. Fleischer, A. Bruselles, M. Tartaglia, 2019, Human mutation.

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

A. Brusco, G. Ferrero, M. Silengo, 2012, European journal of medical genetics.

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

O. Zuffardi, G. Ferrero, M. Silengo, 2009, Italian journal of pediatrics.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

J. Chrast, A. Reymond, Z. Kutalik, 2022, npj Genomic Medicine.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

V. Caputo, A. Bruselles, M. Tartaglia, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

G. Ferrero, M. Silengo, E. Biamino, 2016, International journal of pediatric otorhinolaryngology.

Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review

J. Buxbaum, T. Pippucci, A. Bruselles, 2021, American journal of medical genetics. Part A.

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

B. Franco, G. Ferrero, M. Silengo, 2002, American journal of medical genetics.

Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome

G. Ferrero, M. Silengo, F. Papalia, 2003, American journal of medical genetics. Part A.

Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.

M. Cubellis, G. Ferrero, M. Silengo, 2009, Endocrine development.

Truncus arteriosus and isochromosome 8q

G. Ferrero, M. Silengo, A. Pucci, 2005, American journal of medical genetics. Part A.

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

N. Blau, G. Ferrero, M. Spada, 1996, Journal of Inherited Metabolic Disease.

Disperse and cationic dyes from aminophenyl-X-azolo-pyridines

G. Ferrero, G. Viscardi, E. Barni, 1989 .

A submicroscopic deletion in Xq26 associated with familial situs ambiguus.

L. Shaffer, D. Schlessinger, A. Ballabio, 1997, American journal of human genetics.

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

M. Tartaglia, A. Brusco, G. Ferrero, 2018, Immunology letters.

The overlap between Sotos and Beckwith-Wiedemann syndromes.

G. Ferrero, M. Silengo, A. Mussa, 2010, The Journal of pediatrics.

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

G. Borsani, E. Rugarli, A. Ballabio, 1994, Human molecular genetics.

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

J. Buxbaum, T. Pippucci, A. Bruselles, 2023, European journal of human genetics : EJHG.

Heart rate variability in childhood obesity

F. Cerutti, G. Ferrero, F. Veglio, 2001, Clinical Autonomic Research.

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

S. Mundlos, M. Spielmann, D. Strunk, 2023, Nature Communications.

Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency

N. Blau, G. Ferrero, M. Spada, 1996 .

Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment

I. Dianzani, R. Ponzone, G. Ferrero, 1993, Pediatric Research.

Screening and treatment of tetrahydrobiopterin deficiency

N. Blau, G. Ferrero, A. Ponzone, 1990 .

Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome

G. Ferrero, A. Mussa, A. Corrias, 2013, Journal of clinical research in pediatric endocrinology.

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

C. Romano, A. Brusco, G. Ferrero, 2020, American journal of medical genetics. Part A.

Pachygyria and cerebellar hypoplasia in a patient with a 2q22‐q23 deletion that includes the ZFHX1B gene

G. Ferrero, M. Silengo, N. Wakamatsu, 2004, American journal of medical genetics. Part A.

Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism

B. Vitiello, G. Ferrero, E. Biamino, 2021 .

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

C. Isella, E. Medico, M. Tartaglia, 2012, Human mutation.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

J. Howe, J. Buxbaum, B. Wirth, 2022, Brain : a journal of neurology.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, Data in brief.

Hair anomalies as a sign of mitochondrial disease

G. Ferrero, M. Silengo, M. Spada, 2003, European Journal of Pediatrics.

Case 1: An infant with heart failure (Discussion and Diagnosis)

G. Ferrero, A. Pucci, F. Rutsch, 2009 .

Occult ischemic bone lesions in children with sickle cell disease: A study of prevalence

G. Ferrero, V. Voi, Silvia Turrini, 2022, European journal of haematology.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Successful treatment with MEK‐inhibitor in a patient with NRAS ‐related cutaneous skeletal hypophosphatemia syndrome

E. Medico, A. Brusco, G. Ferrero, 2022, Genes, chromosomes & cancer.

Prenatal features of Noonan syndrome: prevalence and prognostic value

M. Tartaglia, G. Ferrero, M. Silengo, 2011, Prenatal diagnosis.

ECG in noonan syndrome: beyond the "normal abnormalities".

G. Ferrero, G. Baldassarre, G. Agnoletti, 2019, Minerva Cardioangiologica : a Journal on Cardiovascular Pathophysiology, Clinical Medicine and Therapy.

Myhre's syndrome in a girl with normal intelligence

G. Ferrero, M. Silengo, A. G. Delmonaco, 2005, American journal of medical genetics. Part A.