A. Vetro

发表

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Riccardo Bellazzi, Ivan Limongelli, Roberto Ciccone, 2014, European Journal of Human Genetics.

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.

C. Pascutto, M. Paulli, F. Passamonti, 2009, Human pathology.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

G. Scarano, G. Ranzani, S. Giglio, 2018, Clinical genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

V. Calcaterra, A. Iolascon, R. Russo, 2019, Front. Physiol..

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2020, Scientific Reports.

Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2019, bioRxiv.

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

B. Dal Bello, O. Zuffardi, A. Vetro, 2008, Prenatal diagnosis.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

Role of high-resolution ultrasound in guiding treatment of idiopathic plantar fasciitis with minimally invasive techniques

M. Midiri, F. Sorrentino, A. Vetro, 2008, La radiologia medica.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

S. Salani, N. Bresolin, G. Comi, 2014, Neurology.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

C. Angelini, P. Navas, E. Trevisson, 2015, European Journal of Human Genetics.

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

T. Venesio, O. Zuffardi, M. Zecca, 2017, Blood Cells, Molecules, and Diseases.

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

T. Wieland, T. Meitinger, T. Strom, 2014, The New England journal of medicine.

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

G. Ranzani, O. Zuffardi, M. T. Ricci, 2017, Genes, chromosomes & cancer.

Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties

T. Liehr, A. Vetro, I. Papoulidis, 2015, Cytogenetic and Genome Research.

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

M. Fichera, C. Romano, R. Borgatti, 2011, PLoS genetics.

GM3 synthase deficiency in non-Amish patients

C. Schwartz, J. Thevenon, L. Faivre, 2021, Genetics in Medicine.

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

B. Dallapiccola, A. Bruselles, M. Tartaglia, 2021 .

SMARCA 4 inactivating mutations cause concomitant Coffin-Siris syndrome , microphthalmia and small cell carcinoma of the ovary hypercalcemic type Running title : Multiple effects of SMARCA 4 inactivating mutations in development and cancer

S. Giglio, O. Zuffardi, H. Jonge, 2017 .

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

L. Galletti, O. Zuffardi, A. Vetro, 2012, Clinical genetics.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

M. Ahmadian, B. Dallapiccola, A. Bruselles, 2022, Nature Communications.

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

T. Liehr, O. Zuffardi, S. Sifakis, 2013, Cytogenetic and Genome Research.

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

S. Kitsiou‐Tzeli, M. Petersen, A. Papadopoulou, 2011, Molecular Cytogenetics.

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

T. Liehr, A. Vetro, G. Daskalakis, 2017, Current genomics.

Array technology in prenatal diagnosis.

J. Vermeesch, O. Zuffardi, A. Vetro, 2011, Seminars in fetal & neonatal medicine.

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

G. Camerino, G. Luvoni, O. Zuffardi, 2014, PloS one.

University of Birmingham Constitutive activation of PKA catalytic subunit in Adrenal Cushing's Syndrome

F. Faucz, F. Beuschlein, M. Lohse, 2014 .

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

O. Zuffardi, A. Vetro, I. Papoulidis, 2013, Molecular Syndromology.

Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation

T. Liehr, O. Zuffardi, S. Sifakis, 2011, American journal of medical genetics. Part A.

Microcomputed tomography and genetic analysis of a rare case of Caffey's disease in a 5–7‐month‐old girl

A. Modi, M. Lari, D. Caramelli, 2019, International Journal of Osteoarchaeology.

Multiple joint dislocations: An additional skeletal finding in Lowry–Wood syndrome?

O. Zuffardi, G. Bevilacqua, A. Vetro, 2009, American journal of medical genetics. Part A.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

G. Camerino, M. Carella, A. Brusco, 2014, European Journal of Human Genetics.

XX males SRY negative: a confirmed cause of infertility

R. Giorda, O. Zuffardi, M. Patricelli, 2011, Journal of Medical Genetics.

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

O. Zuffardi, S. Sifakis, P. Peitsidis, 2012, Molecular Cytogenetics.

Unexpected results in the constitution of small supernumerary marker chromosomes.

T. Liehr, O. Zuffardi, G. Arrigo, 2012, European journal of medical genetics.

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

T. Liehr, G. Markopoulos, A. Vetro, 2014, Cytogenetic and Genome Research.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

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

S. Giglio, O. Zuffardi, P. Morbini, 2017, The Journal of pathology.

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes

G. Ranzani, O. Zuffardi, V. Gismondi, 2015, Familial Cancer.

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2020, Scientific Reports.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

R. Guerrini, D. Mei, A. Vetro, 2020, Neurology: Genetics.

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Ivan Limongelli, Gordon W Stewart, Achille Iolascon, 2013, Blood.

RED CELLS , IRON , AND ERYTHROPOIESIS Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO 1

S. Schrier, D. Vandorpe, A. Iolascon, 2013 .

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

M. Severino, O. Zuffardi, M. Silengo, 2014, Molecular Cytogenetics.

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

T. Liehr, O. Zuffardi, S. Sifakis, 2017, Molecular medicine reports.

PRKACB and Carney complex.

C. Stratakis, L. Garavelli, O. Zuffardi, 2014, The New England journal of medicine.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

F. Faucz, C. Stratakis, I. Holm, 2014, The Journal of clinical endocrinology and metabolism.

The use of array-CGH in a cohort of Greek children with developmental delay

T. Liehr, M. Petersen, P. Peitsidis, 2010, Molecular Cytogenetics.

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.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

M. Fichera, R. Guerrini, V. Conti, 2019, European Journal of Human Genetics.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

A Data Fusion Approach to Enhance Association Study in Epilepsy

Riccardo Bellazzi, Alberto Malovini, Ivan Limongelli, 2016, PloS one.

Hypnosis Upregulates the Expression of Immune-Related Genes in Lymphocytes

Z. Janka, L. Puskás, A. Juhász, 2008, Psychotherapy and Psychosomatics.

The introduction of arrays in prenatal diagnosis: A special challenge

D. Ledbetter, J. Vermeesch, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.

Roberto Ciccone, Roberto Giorda, Daniela Toniolo, 2008, European journal of medical genetics.

A newborn with ambiguous genitalia and a complex X;Y rearrangement

O. Zuffardi, A. Vetro, M. Dehghani, 2014, Iranian journal of reproductive medicine.

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?

L. Shaffer, O. Zuffardi, A. Vetro, 2011, Prenatal diagnosis.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

T. Liehr, O. Zuffardi, A. Vetro, 2014, Gene.

[Puerperal inversion of the uterus. Report of 2 cases].

A. Vetro, E. Arrigoni, 1970, Minerva ginecologica.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus

R. Guerrini, O. Zuffardi, B. Bernardina, 2007, European Journal of Human Genetics.

Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

N. Ameziane, J. Dorsman, O. Zuffardi, 2015, Human mutation.

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

P. May, P. Striano, H. Lerche, 2021, medRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.

P. Peitsidis, M. Eleftheriades, A. Vetro, 2012, Clinical and experimental obstetrics & gynecology.

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

T. Liehr, O. Zuffardi, A. Vetro, 2010, Prenatal diagnosis.

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

M. Cowley, M. Dinger, J. Christodoulou, 2020, The Journal of experimental medicine.

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

A. Konstantinidou, O. Zuffardi, A. Vetro, 2013, Molecular Cytogenetics.

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome

F. Santorelli, R. Guerrini, A. Rubegni, 2023, Journal of Neurology.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

G. Mazzini, S. Savasta, A. Mattevi, 2017, European Journal of Human Genetics.

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

S. Kitsiou‐Tzeli, M. Petersen, A. Papadopoulou, 2011, Molecular Cytogenetics.

A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events

A. Pichiecchio, S. Orcesi, R. Giorda, 2015, American journal of medical genetics. Part A.

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

L. Pantoni, S. Quaglini, O. Zuffardi, 2015, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

A. Colli, O. Zuffardi, F. Lalatta, 2008, Prenatal diagnosis.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.

A. Vetro, 2023, European Journal of Human Genetics.

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

S. Giglio, O. Zuffardi, P. Morbini, 2017, The Journal of pathology.

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

T. Liehr, O. Zuffardi, G. Kitsos, 2014, Experimental and therapeutic medicine.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes

G. Ranzani, O. Zuffardi, V. Gismondi, 2014, Familial Cancer.