O. Zuffardi

C. Pantaleoni, F. Natacci, O. Zuffardi, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.

R. Borgatti, R. Giorda, O. Zuffardi, 2002, American journal of medical genetics.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

J. Opitz, R. Tenconi, J. Lindsten, 1981, Human genetics.

Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes

C. Tyler-Smith, M. Jobling, M. Ferguson-Smith, 1993, Nature Genetics.

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.

Xavier Estivill, Joseph Cheung, Lluís Armengol, 2003, Human molecular genetics.

Alazami syndrome: the first case of papillary thyroid carcinoma

S. Bernasconi, S. Piana, L. Garavelli, 2019, Journal of Human Genetics.

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

R. Borgatti, R. Tenconi, R. Giorda, 2005, European Journal of Human Genetics.

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

M. Maghnie, V. Sutton, W. Bi, 2012, European Journal of Human Genetics.

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.

G. Barosi, V. Rosti, L. Villani, 2009, Blood.

Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.

A. Balduini, O. Zuffardi, A. Malara, 2020, European journal of medical genetics.

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.

G. Borsani, O. Zuffardi, G. Andria, 1998, Genomics.

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..

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X‐linked trait

C. Walsh, G. Neri, O. Zuffardi, 2003, American journal of medical genetics. Part A.

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

M. Cisternino, O. Zuffardi, E. Fazzi, 2016, Molecular Cytogenetics.

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

R. Guerrini, O. Zuffardi, A. Renieri, 2012, American journal of medical genetics. Part A.

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

J. W. Foster, S. Mansour, O. Zuffardi, 1995, American journal of human genetics.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

R. Guerrini, D. Mei, O. Zuffardi, 2010, Epilepsia.

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

O. Zuffardi, V. Pistoia, F. Parodi, 2011, Omics : a journal of integrative biology.

Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging

S. Bione, P. Vineis, D. Mari, 2012, PloS one.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

W. Kress, O. Zuffardi, D. McDonald-McGinn, 2007, Clinical genetics.

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

O. Zuffardi, L. Tiepolo, 1976, Human Genetics.

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

Roberto Ciccone, Roberto Giorda, R. Giorda, 2011, American journal of medical genetics. Part A.

Inverted duplications deletions: underdiagnosed rearrangements??

R. Giorda, O. Zuffardi, R. Ciccone, 2009, Clinical genetics.

Diffuse proliferative glomerulonephritis does not determine the worst outcome in childhood-onset lupus nephritis : a 23-year experience in a single centre

S. Giglio, O. Zuffardi, M. R. Caruso, 2009 .

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

O. Zuffardi, L. Tiepolo, P. Maraschio, 1988, Journal of medical genetics.

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

D. Larizza, S. Savasta, O. Zuffardi, 2012, The Journal of clinical endocrinology and metabolism.

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

A. Cometa, G. Corazza, F. Locatelli, 2009, Cytotherapy.

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

R. Guerrini, F. Sicca, O. Zuffardi, 2012, Epilepsy & Behavior.

Periventricular nodular heterotopia in Smith‐Magenis syndrome

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

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

M. Fichera, O. Zuffardi, M. Bonaglia, 2022, European journal of medical genetics.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

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.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

S. Gimelli, V. Kučinskas, O. Zuffardi, 2007, Journal of Medical Genetics.

Inverted duplications: how many of them are mosaic?

M. Rocchi, S. Giglio, R. Giorda, 2004, European Journal of Human Genetics.

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

G. Gimelli, G. Floridia, O. Zuffardi, 1996, American journal of human genetics.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

F. Azzaroli, S. Giglio, O. Zuffardi, 2021, Diagnostics.

Ring syndrome: still true?

O. Zuffardi, E. Rossi, J. Messa, 2008, Journal of Medical Genetics.

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.

S. Bione, G. Borsani, A. Ballabio, 1998, American journal of human genetics.

Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell‐therapy approaches: Further insights in the search for a fetal calf serum substitute

A. Cometa, A. de Silvestri, F. Locatelli, 2007, Journal of cellular physiology.

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

D. Riva, C. Montomoli, C. Pantaleoni, 2016, Journal of child neurology.

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

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

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

M. Zeviani, G. Uziel, M. Mora, 2010, American journal of human genetics.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

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

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

R. Carrozzo, O. Zuffardi, T. Pramparo, 2000, Clinical genetics.

Gene Copy Number Variation in Male Breast Cancer by aCGH

S. Tommasi, A. Paradiso, P. Chiarappa, 2010, Analytical cellular pathology.

BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities.

O. Zuffardi, M. Fraccaro, L. Tiepolo, 1978, Cytogenetics and cell 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.

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

M. Bolognesi, F. Cossu, R. Gioia, 2015, Neurological Sciences.

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis

S. Bione, D. Toniolo, O. Zuffardi, 2007, Human Genetics.

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

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

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

G. Scarano, O. Zuffardi, A. Selicorni, 2010, European Journal of Human Genetics.

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings

V. Calcaterra, O. Zuffardi, F. Novara, 2015, Acta Diabetologica.

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.

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

M. Paulli, D. Fanoni, E. Berti, 2011, Blood.

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

E. Dardiotis, O. Zuffardi, T. Mattina, 2019, Front. Immunol..

Evidence for an ancestral alphoid domain on the long arm of human chromosome 2

O. Zuffardi, M. Fraccaro, A. Pedicini, 1992, Human Genetics.

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

A. Perra, S. Giglio, O. Zuffardi, 2022, Journal of clinical medicine.

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

T. Pippucci, G. Neri, O. Zuffardi, 2017, Orphanet Journal of Rare Diseases.

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia

V. Rosti, F. Locatelli, C. Carlo-Stella, 2012, Pediatric blood & cancer.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

B. V. van Bon, E. Bongers, D. Newbury, 2011, Molecular Syndromology.

2q24-q31 deletion: report of a case and review of the literature.

S. Gimelli, O. Zuffardi, A. Renieri, 2007, European journal of medical genetics.

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

L. Faivre, C. Thauvin-Robinet, B. Franco, 2009, American journal of medical genetics. Part A.

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy

M. Rocchi, L. Chessa, R. Giorda, 2005, Human Genetics.

A novel mechanism for the origin of supernumerary marker chromosomes

M. Rocchi, R. Tupler, O. Zuffardi, 1996, Human Genetics.

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.

M. Rocchi, V. Tiranti, M. Zeviani, 1995, Genomics.

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

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

A new submicroscopic deletion that refines the 9p region for sex reversal.

G. Borsani, G. Camerino, A. De Grandi, 2000, Genomics.

Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach.

A. de Silvestri, R. Cerbo, O. Zuffardi, 2013, Cytotherapy.

Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer.

C. Klersy, O. Zuffardi, E. Solcia, 2011, Human Pathology.

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

S. Gimelli, G. Scarano, S. Giglio, 2006, Journal of Medical Genetics.

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

S. Giglio, R. Giorda, O. Zuffardi, 2004, Journal of Medical Genetics.

Brief report Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-speciﬁc molecular clonality marker

G. Barosi, V. Rosti, L. Villani, 2009 .

CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case.

M. Paulli, L. Arcaini, O. Zuffardi, 2011, Human pathology.

focus on biallelic locus 9p21.3 deletion Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm:

M. Paulli, D. Fanoni, L. Arcaini, 2013 .

3 deletion Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm :

M. Paulli, D. Fanoni, E. Berti, 2011 .

Molecular biology of cutaneous T-cell lymphomas

S. Gimelli, M. Paulli, E. Berti, 2009 .

Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms

F. Locatelli, R. Gale, G. Barosi, 2014, Leukemia.

MYELOID NEOPLASIA Spleen endothelial cells from patients with myeloﬁbrosis harbor the JAK2 V617F mutation

M. Paulli, P. Guglielmelli, A. Pancrazzi, 2013 .

Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

R. Ravazzolo, G. Gimelli, L. Alhonen, 2002, Human Genetics.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A. Pagnamenta, A. Represa, Jenny C. Taylor, 2017, Journal of visualized experiments : JoVE.

FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome.

O. Zuffardi, P. Morbini, M. Zecca, 2020, Cancer genetics.

Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor

Mark George Thomas, L. Pagani, Y. Diekmann, 2018, Hypertension.

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 .

Periventricular heterotopia in fragile X syndrome

A. Battaglia, R. Guerrini, O. Zuffardi, 2006, Neurology.

Scott Perry and Lisa Billars venous line Extravasation of hyperalimentation into the spinal epidural space from a central

A. Battaglia, R. Guerrini, O. Zuffardi, 2022 .

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

A. Vanderver, S. Orcesi, A. Berardinelli, 2014 .

MCT8 Deficiency

A. Vanderver, S. Orcesi, A. Berardinelli, 2013, Journal of child neurology.

Cell‐cycle phases and genetic profile of bone marrow‐derived mesenchymal stromal cells expanded in vitro from healthy donors

G. Barosi, O. Zuffardi, G. Arrigo, 2011, Journal of cellular biochemistry.

Mapping of a human centromere onto the DNA by topoisomerase II cleavage

C. Tyler-Smith, G. Floridia, O. Zuffardi, 2000, EMBO reports.

Transmission of a fully functional human neocentromere through three generations.

C. Tyler-Smith, G. Gimelli, W. Earnshaw, 1999, American journal of human genetics.

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

R. Guerrini, S. Giglio, O. Zuffardi, 1998, Journal of medical genetics.

gene in an 8 cM region of 6 q 25 . bundles owing to haploinsufficiency for a Agenesis of the corpus callosum with Probst

R. Guerrini, S. Giglio, O. Zuffardi, 2022 .

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Communications.

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

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

A neocentromere in the DAZ region of the human Y chromosome

C. Tyler-Smith, G. Gimelli, W. Earnshaw, 2000, Chromosoma.

CENP-G in neocentromeres and inactive centromeres

G. Gimelli, S. Giglio, O. Zuffardi, 2000, Chromosoma.

Order of six loci at 2q24-q31 and orientation of the HOXD locus.

M. Zeviani, E. Boncinelli, A. Faiella, 1994, Genomics.

Mitotic recombination among acrocentric chromosomes' short arms

O. Zuffardi, U. Giussani, B. Facchinetti, 1996, Annals of human genetics.

The cDNA sequence and chromosomal location of the human SOX2 gene

P. Goodfellow, R. Lovell-Badge, M. Stevanović, 1994, Mammalian Genome.

Evolutionary and clinical neocentromeres: two faces of the same coin?

M. Rocchi, O. Capozzi, S. Purgato, 2008, Chromosoma.

Tandem translocation 15-13.

O. Zuffardi, F. Pasquali, F. Severi, 1973, Annales de genetique.

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis.

O. Zuffardi, M. Seia, C. Colombo, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

M. Fichera, O. Zuffardi, R. Romaniello, 2020, Molecular Cytogenetics.

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy

O. Zuffardi, F. Novara, S. Genovese, 2014, Case reports in obstetrics and gynecology.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

V. Pertegato, S. Dimauro, P. Navas, 2012, Journal of Medical Genetics.

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

E. Riley, S. Mattson, D. Ivy, 2009, neurogenetics.

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease

O. Zuffardi, M. Patricelli, E. Bosi, 2021, Medicine.

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

K. Devriendt, A. Coppola, J. Vermeesch, 2017, European Journal of Human Genetics.

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.

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

G. Finocchiaro, O. Zuffardi, O. Corti, 1994, Genomics.

RAPID REPORT ZPLD1 GENE IS DISRUPTED IN A PATIENT WITH BALANCED TRANSLOCATION THAT EXHIBITS CEREBRAL CAVERNOUS MALFORMATIONS

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008 .

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 .

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

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

Do Not Exhibit Telomere Maintenance Mechanisms Culture In vitro Not Undergo Transformation after Long-term Derived Mesenchymal Stem Cells Do − Human Bone Marrow

A. Cometa, M. Daidone, N. Zaffaroni, 2007 .

The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype

J. Opitz, R. Tenconi, J. Lindsten, 1981, Human Genetics.

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.

Scotosensitive and Photosensitive Myoclonic Seizures in an Infant with Trisomy 13

O. Zuffardi, B. dalla Bernardina, F. Darra, 2007, Epilepsia.

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

H. Ropers, O. Zuffardi, M. Fraccaro, 2004, Human Genetics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Phosphorylation switches specific for the cardiac isoform of myosin binding protein‐C: a modulator of cardiac contraction?

M. Gautel, O. Zuffardi, S. Labeit, 1995, The EMBO journal.

Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes

N. Archidiacono, M. Rocchi, L. Viggiano, 1999, Cytogenetic and Genome Research.

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation

G. Marseglia, A. Merli, O. Zuffardi, 2014, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

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.

Dup(3)(p2----pter) in two families, including one infant with cyclopia.

G. Gimelli, O. Zuffardi, M. Aricò, 1985, American journal of medical genetics.

Tricholomenyns A and B, novel antimitotic acetylenic cyclohexenone derivatives from the fruiting bodies of Tricholoma acerbum

O. Zuffardi, L. Garlaschelli, G. Vidari, 1995 .

A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.

S. Gimelli, G. Gimelli, R. Giorda, 2007, European journal of medical genetics.

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

K. Worley, G. Camerino, B. Bardoni, 1994, Nature Genetics.

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis

S. Gimelli, G. Gimelli, O. Zuffardi, 2007, European Journal of Human Genetics.

The role of Yp in sex determination: new evidence from X/Y translocations.

O. Zuffardi, U. Müller, P. Maraschio, 1982, American journal of medical genetics.

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

O. Zuffardi, L. Tiepolo, A. Rodewald, 1977, Human Genetics.

Non-fluorescent Y chromosome in a 45,X-46,XY mosaic.

O. Zuffardi, M. Fraccaro, F. Lo Curto, 1972, Annales de genetique.

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies

S. Gimelli, G. Gimelli, R. Giorda, 2006, American journal of medical genetics. Part A.

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

B. Bardoni, O. Zuffardi, G. Arrigo, 1997, American journal of medical genetics.

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.

Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

C. E. Ford, O. Zuffardi, P. Maraschio, 1987, 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.

A new chromosome instability disorder

O. Zuffardi, L. Minoli, P. Maraschio, 1986, Clinical genetics.

The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families

A. Robinson, Y. Fukushima, N. Niikawa, 2004, Human Genetics.

The 11q;22q translocation: A European collaborative analysis of 43 cases

C. E. Ford, G. Gimelli, A. Hagemeijer, 2004, Human Genetics.

Male infertility and 13-14 translocation.

O. Zuffardi, M. Fraccaro, L. Tiepolo, 1973, Lancet.

Unexpected results in the constitution of small supernumerary marker chromosomes.

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

Duplication of the short arm of chromosome 9. Analysis of five cases

G. Gimelli, O. Zuffardi, F. Pasquali, 2004, Human Genetics.

The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction

O. Zuffardi, F. Crosato, F. Pasquali, 1977, Clinical genetics.

Changes in the fluorescence patterns of translocated Y chromosome segments in Drosophila melanogaster

O. Zuffardi, C. Barigozzi, S. Dolfini, 2004, Chromosoma.

Familial XX true hermaphroditism and the H-Y antigen

O. Zuffardi, M. Fraccaro, L. Tiepolo, 1979, Human Genetics.

A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis.

A. Ballabio, G. Camerino, B. Bardoni, 1991, Genomics.

Evidence for a human mitotic mutant with pleiotropic effect

O. Zuffardi, L. Papi, P. Maraschio, 1989, Annals of human genetics.

Seizures and EEG features in 74 patients with genetic‐dysmorphic syndromes

D. Riva, S. Franceschetti, C. Pantaleoni, 2014, American journal of medical genetics. Part A.

A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region

G. Camerino, O. Zuffardi, E. Rossi, 2015, Sexual Development.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

D. Reinberg, T. Badea, W. Dobyns, 2021, bioRxiv.

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

G. Borsani, A. Ballabio, S. Banfi, 1996, Nature Genetics.

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

S. Bione, F. Torricelli, D. Toniolo, 2004, Human reproduction.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

D. Ledbetter, S. Christian, P. Simi, 1997, American journal of human genetics.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

P. Stankiewicz, Z. Xia, S. Cheung, 2011, European Journal of Human Genetics.

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

R. Borgatti, M. Molteni, C. Zucca, 2010, European Journal of Human Genetics.

Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

O. Zuffardi, F. Novara, M. Mastrangelo, 2013, Epileptic disorders : international epilepsy journal with videotape.

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

R. Giorda, O. Zuffardi, T. Pramparo, 2005, Journal of Medical Genetics.

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

H. Ostrer, G. Camerino, O. Zuffardi, 2014, Human molecular 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.

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.

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

A. Magi, I. Sardi, A. Buccoliero, 2014, American journal of cancer research.

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

M. Delledonne, T. Liehr, O. Zuffardi, 2018, Molecular genetics & genomic medicine.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

M. Rocchi, R. Giorda, O. Zuffardi, 2005, Journal of Medical Genetics.

Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?

M. Rocchi, G. Gimelli, R. Giorda, 2005, Human Genetics.

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

M. Rocchi, R. Borgatti, R. Giorda, 2003, Journal of medical genetics.

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

R. Bellazzi, A. Cometa, F. Locatelli, 2009, Human Genetics.

Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.

Jonathan M. Mudge, Elisabeth Blennow, Roberto Giorda, 2003, Genome research.

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

A. Federico, M. Dotti, S. Giglio, 2003, American journal of medical genetics. Part A.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

D. Larizza, N. Tommerup, M. Delledonne, 2018, Human mutation.

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

M. Rocchi, A. Franzese, S. Giglio, 2012, PloS one.

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

O. Zuffardi, V. Gatta, L. Stuppia, 2008, European journal of medical genetics.

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

R. Borgatti, S. Giglio, R. Giorda, 2000, European Journal of Human Genetics.

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability

G. Gimelli, O. Zuffardi, A. Pezzolo, 1993, Human Genetics.

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

G. Floridia, O. Zuffardi, E. Rossi, 2004, Chromosome Research.

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

G. Floridia, O. Zuffardi, G. Chiumello, 1993, Journal of medical genetics.

Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.

O. Zuffardi, H. Rivera, L. Gargantini, 1990, American journal of medical genetics.

Reciprocal translocations: a trap for cytogenetists?

M. Rocchi, R. Tenconi, R. Guerrini, 2005, Human Genetics.

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

M. Cisternino, O. Zuffardi, E. Fazzi, 2016, Molecular Cytogenetics.

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

D. Chaussabel, J. Casanova, S. Boughorbel, 2017, Proceedings of the National Academy of Sciences.

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

G. Cantalupo, M. Franchi, S. Zaffagnini, 2020, International Journal of Pediatric Endocrinology.

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.

Chromosome imbalance, normal phenotype, and imprinting.

O. Zuffardi, H. Rivera, R. Furlan, 1990, Journal of medical genetics.

Common Long Human Inversion Polymorphism on Chromosome $8p$

J. Weber, D. Ledbetter, K. Broman, 2003 .

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.

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes

J. Chrast, A. Reymond, C. N. Henrichsen, 2010, American journal of medical genetics. Part A.

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

O. Zuffardi, P. Veggiotti, I. Limongelli, 2013, European journal of medical genetics.

Characterization of a recurrent 15q24 microdeletion syndrome.

B. D. de Vries, E. Eichler, R. Regan, 2007, Human molecular genetics.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

S. Bernasconi, L. Garavelli, O. Zuffardi, 2018, Italian Journal of Pediatrics.

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

L. Bernardini, A. Novelli, O. Zuffardi, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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.

Guidelines for molecular karyotyping in constitutional genetic diagnosis

H. Fiegler, K. Devriendt, J. Clayton-Smith, 2007, European Journal of Human Genetics.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

M. Delledonne, C. Zucca, R. Giorda, 2018, Journal of Medical Genetics.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

S. Mundlos, M. Spielmann, L. Wittler, 2022, bioRxiv.

A Data Fusion Approach to Enhance Association Study in Epilepsy

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

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

G. Borsani, A. Ballabio, M. Wapenaar, 1998, Genomics.

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

O. Zuffardi, S. Cavani, M. Piccione, 2012, European journal of medical genetics.

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.

C. Disteche, H. Willard, E. Rugarli, 1998, Human molecular genetics.

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

B. Giusti, L. Garavelli, S. Giglio, 2020, Human Genetics.

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

S. Bione, D. Toniolo, O. Zuffardi, 2006, Human reproduction.

The introduction of arrays in prenatal diagnosis: A special challenge

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

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

S. Gimelli, P. Striano, A. Coppola, 2010, Brain and Development.

Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

S. Gimelli, G. Gimelli, G. Ghiggeri, 2010, Human mutation.

Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

R. Ravazzolo, S. Gimelli, G. Gimelli, 2007, Human mutation.

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

P. Deloukas, R. Gwilliam, I. Dunham, 2009, European Journal of Human Genetics.

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

A. Reymond, A. Ballabio, G. Merla, 1999, Oncogene.

Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder

R. Giorda, O. Zuffardi, R. Ciccone, 2010 .

Subtelomeric trisomy 21q: a new benign chromosomal variant.

R. Borgatti, C. Zucca, R. Giorda, 2007, European journal of medical genetics.

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

R. Borgatti, R. Giorda, O. Zuffardi, 2001, American journal of human genetics.

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects

R. Giorda, O. Zuffardi, R. Ciccone, 2010, Human Genetics.

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

A. Ballabio, T. Ogata, B. Franco, 2005, American journal of medical genetics. Part A.

Narrowing the deleted region associated with the 15q21 syndrome.

S. Gimelli, T. Liehr, O. Zuffardi, 2005, European journal of medical genetics.

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

S. Gimelli, T. Liehr, R. Guerrini, 2008, American journal of medical genetics. Part A.

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

M. Delledonne, O. Zuffardi, M. Rossato, 2018, European journal of medical genetics.

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.

Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32

R. Tupler, O. Zuffardi, R. Moratti, 1989, Human Genetics.

Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

R. Tupler, O. Zuffardi, R. Moratti, 1989, Human genetics.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia

V. Rosti, R. Zappatore, F. Locatelli, 2015, British journal of haematology.

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

S. Gimelli, O. Zuffardi, V. Pistoia, 2009, Neuro-oncology.

15/15 translocation in Prader-Willi syndrome.

O. Zuffardi, M. Fraccaro, L. P. Jurik, 1977, Journal of medical genetics.

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.

Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.

O. Zuffardi, L. Tiepolo, S. Scappaticci, 1977, Annales de genetique.

A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.

O. Zuffardi, C. Danesino, P. Maraschio, 1984, Annales de genetique.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

A. Brusco, O. Zuffardi, C. Fagerberg, 2014, American journal of medical genetics. Part A.

Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.

I. Sardi, A. Buccoliero, S. Giglio, 2016, American journal of cancer research.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome

B. Castellotti, T. Visser, O. Zuffardi, 2017, Human mutation.

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

A. Bayat, H. Stewart, K. Lachlan, 2020, American journal of medical genetics. Part A.

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients

S. Duchi, L. Sangiorgi, O. Zuffardi, 2014, Journal of Translational Medicine.

The phenotype of recurrent 10q22q23 deletions and duplications

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

Two classes of low‐copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

M. Rocchi, G. Gimelli, M. Genuardi, 2007, Human mutation.

MEF2C deletions and mutations versus duplications: a clinical comparison.

S. Esposito, C. Pantaleoni, O. Zuffardi, 2013, European journal of medical genetics.

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

R. Cerini, R. Guerrini, O. Zuffardi, 2008, 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.

Gene copy number variation in male breast cancer by aCGH

S. Tommasi, A. Paradiso, P. Chiarappa, 2011, Cellular Oncology.

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

M. Tartaglia, L. Garavelli, A. Novelli, 2023, Genes.

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.

A. Ballabio, A. Luddi, O. Zuffardi, 1998, Genomics.

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

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

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

R. Borgatti, S. Gimelli, G. Gimelli, 2008, European Journal of Human Genetics.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

A. Ballabio, O. Zuffardi, M. Zollo, 1991, American journal of medical genetics.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

M. Tartaglia, E. Agolini, L. Garavelli, 2021, Genes.

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

M. Tartaglia, L. Garavelli, R. Guerrini, 2021, Genes.

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

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

Trisomy 10qter confirmed by in situ hybridisation.

G. Floridia, O. Zuffardi, F. Lalatta, 1993, Journal of medical genetics.

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

L. Garavelli, O. Zuffardi, C. Baldo, 2021, Genes.

Localization of p27 beta 4 binding protein gene (ITGB4BP) to human chromosome region 20q11.2.

S. Biffo, O. Zuffardi, G. Arrigo, 1998, Genomics.

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

R. Tenconi, R. Giorda, O. Zuffardi, 2007, Journal of Medical Genetics.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

M. Tartaglia, L. Garavelli, R. Pascarella, 2021, Genes.

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

S. Gimelli, G. Gimelli, R. Gemmill, 2009, Molecular Cancer.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

A. Pichiecchio, S. Orcesi, O. Zuffardi, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

O. Zuffardi, V. Politi, R. Ciccone, 2008, European journal of medical genetics.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

J. Clayton-Smith, A. Toutain, S. Mansour, 2009, European Journal of Human Genetics.

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)

F. Spada, M. Rusconi, G. Menozzi, 2008, European Journal of Human Genetics.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

F. Emma, O. Zuffardi, A. Cao, 2006, Journal of Human Genetics.

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

G. Floridia, S. Giglio, O. Zuffardi, 1997, Human Genetics.

Further delineation of 7p trisomy. Case report and review of literature.

O. Zuffardi, L. Dalprà, R. Pallotta, 1996, Annales de genetique.

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome

R. Bellazzi, F. Fusi, D. Toniolo, 2008, Journal of Medical Genetics.

The syndrome of partial trisomy 14q

O. Zuffardi, F. Severi, P. Maraschio, 1976, European Journal of Pediatrics.

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

R. Tenconi, G. Floridia, M. Clementi, 1993, Human Genetics.

Translocation X;13 in a patient with retinoblastoma.

O. Zuffardi, C. Danesino, G. Ponzio, 1987, Journal of medical genetics.

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation

H. Ropers, O. Zuffardi, L. Tiepolo, 2004, Human Genetics.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3–q22.1

O. Zuffardi, E. Rossi, R. Zarrilli, 1993, Human Genetics.

“Jumping” satellites in three generations: A warning for paternity tests and prenatal diagnosis

G. Gimelli, O. Zuffardi, S. Scappaticci, 1976, Human Genetics.

Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.

M. Paulli, P. Guglielmelli, A. Pancrazzi, 2013, Blood.

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.

G. Finocchiaro, L. Montermini, C. Gellera, 1994, Genomics.

Xp duplications and sex reversal.

G. Camerino, B. Bardoni, V. Calvari, 1995, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

R. Giorda, O. Zuffardi, L. Mazzanti, 2010, Molecular Syndromology.

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

A. Arossa, S. Orcesi, O. Zuffardi, 2022, European journal of medical genetics.

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

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

Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

O. Zuffardi, H. Rivera, P. Maraschio, 1989, Journal of medical genetics.

Human Bone Marrow-Derived Mesenchymal Stem Cells Do Not Undergo Transformation after Long-Term In Vitro Culture and Do Not Exhibit Telomere Maintenance Mechanisms.

A. Cometa, M. Daidone, N. Zaffaroni, 2007 .

Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients

A. Palumbo, S. Colla, A. Neri, 2010, Leukemia.

Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.

S. Colla, A. Neri, C. Manferdini, 2010, Experimental hematology.

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

F. Emma, O. Zuffardi, A. Cao, 2007, European journal of medical genetics.

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

P. Pignatti, E. Calzolari, D. Taruscio, 2004, Clinical chemistry and laboratory medicine.

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

G. Camerino, B. Bardoni, M. Cisternino, 1993, Human Genetics.

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

A. Iolascon, S. Giglio, R. Giorda, 2020, Molecular genetics & genomic medicine.

A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q

G. Scarano, D. Luquetti, O. Zuffardi, 2007, American journal of medical genetics. Part A.

[2:12 (p25;q21) translocation classed at first as 2/X].

O. Zuffardi, F. Pasquali, F. Bernardi, 1975, Annales de Genetique.

Ring chromosome 12 and latent centromeres

O. Zuffardi, C. Danesino, F. Pavesi, 1980 .

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

P. Striano, R. Møller, E. Gardella, 2021, Seizure.

A patient with duplication (7)(p22.1pter) characterized by array‐CGH

C. Farra, O. Zuffardi, T. Pramparo, 2007, American journal of medical genetics. Part A.

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

C. Cianchetti, O. Zuffardi, M. Loi, 2008, American journal of medical genetics. Part A.

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

M. Cisternino, O. Zuffardi, Baran Bayindir, 2013, Case reports in genetics.

Preferential maternal derivation in inv dup(15)

G. Gimelli, R. Lorini, C. Fonatsch, 2004, Human Genetics.

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

O. Zuffardi, R. Ciccone, M. Priolo, 2007, European journal of medical genetics.

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

S. Bione, D. Toniolo, O. Zuffardi, 2004, European Journal of Human Genetics.

Refining the phenotype associated with MEF2C haploinsufficiency

E. Ortibus, H. Van Esch, R. Giorda, 2010, Clinical genetics.

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

B. Bardoni, S. Giglio, O. Zuffardi, 2000, European Journal of Human Genetics.

Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).

O. Inozemtseva, O. Zuffardi, A. Aguilar-Lemarroy, 2012, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

M. Rocchi, R. Tenconi, M. Clementi, 2003, American journal of medical genetics. Part A.

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Journal of medical genetics.

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

G. Gimelli, R. Biancheri, O. Zuffardi, 2014, European journal of medical genetics.

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

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

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

Trisomy 16q21»qter

O. Zuffardi, R. Vanni, G. Crisponi, 1980, Human Genetics.

Indirect immunofluorescence of inactive centromeres as indicator of centromeric function

O. Zuffardi, P. Maraschio, S. Lambiase, 1986, Human Genetics.

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

R. Tupler, O. Zuffardi, H. Rivera, 1990, Human Genetics.

Ring chromosome and latent centromeres.

O. Zuffardi, C. Danesino, L. Gargantini, 1980, Cytogenetics and cell genetics.

Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.

A. Ballabio, M. Volta, S. Banfi, 1999, Genomics.

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

A. Puca, O. Zuffardi, A. Ceriello, 2017, BMC Medical Genetics.

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.

M. Fichera, O. Zuffardi, R. Romaniello, 2022, European journal of medical genetics.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

N. Brunetti‐Pierri, G. Scarano, D. Luquetti, 2007, European journal of medical genetics.

Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

S. Giglio, O. Zuffardi, A. Farina, 2020, Prenatal diagnosis.

Mutations inSOX9,theGeneResponsible forCampomelic Dysplasia andAutosomalSexReversal

J. W. Foster, O. Zuffardi, S. Guioli, 1995 .

Correlation between testicular tissue and H‐Y phenotype in intersex patients

A. Prader, O. Zuffardi, M. Fraccaro, 1983, Clinical genetics.

Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue.

A. Prader, O. Zuffardi, M. Fraccaro, 1983, American journal of medical genetics.

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

A. Acquaviva, T. Hadjistilianou, O. Zuffardi, 2007, Journal of Human Genetics.

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

C. Tribioli, S. Bione, M. Maghnie, 2008, PloS one.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

F. Tempia, A. Durr, S. Forlani, 2013, Journal of Medical Genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

MECP2 duplication phenotype in symptomatic females: report of three further cases

R. Battini, F. Sicca, O. Zuffardi, 2014, Molecular Cytogenetics.

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

G. Gimelli, R. Lorini, C. Fonatsch, 1981, Human genetics.

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

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.

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

G. Gimelli, G. Ghiggeri, G. Caridi, 1993, Human Genetics.

Eyebrow anomalies as a diagnostic sign of genomic disorders

S. Girirajan, O. Zuffardi, M. Silengo, 2010, Clinical genetics.

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

M. Fichera, A. Trabacca, M. Kocova, 2020 .

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.

S. Perrotta, O. Zuffardi, L. Salviati, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

L. Garavelli, R. Pascarella, O. Zuffardi, 2020, neurogenetics.

Probe St35-239 (DXYS64) reveals homology between the distal ends of Xq and Yq.

G. Camerino, O. Zuffardi, S. Guioli, 1991, Genomics.

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

E. Rugarli, R. Ravazzolo, T. Meitinger, 2007, International journal of molecular medicine.

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

R. Tenconi, R. Alaggio, O. Zuffardi, 2006, American journal of human genetics.

Chromosome abnormalities and male sterility.

O. Zuffardi, F. Pasquali, P. Maraschio, 1975, Journal de genetique humaine.

Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

O. Zuffardi, P. Marone, M. Zecca, 2019, Journal of Pediatric Genetics.

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

M. Genuardi, S. Giglio, O. Zuffardi, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Developmental trends of communicative skills in children with chromosome 14 aberrations

O. Zuffardi, F. Novara, L. Zampini, 2017, European Journal of Pediatrics.

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.

The genetics of small-vessel disease.

S. Debette, O. Zuffardi, G. Micieli, 2012, Current medicinal chemistry.

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

C. Pantaleoni, R. Giorda, O. Zuffardi, 2013, European journal of medical genetics.

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

L. Garavelli, O. Zuffardi, K. Caldecott, 2020, Journal of Human Genetics.

Identification of normal and abnormal chromosomes in tumor cells.

O. Zuffardi, L. Tiepolo, 1973, Cytogenetics and cell genetics.

Chromosome 15 and Prader-Willi Syndrome

E. Buhler, O. Zuffardi, M. Fraccaro, 2008 .

Fluorescence and Y translocation in XX males.

O. Zuffardi, C. Barigozzi, S. Dolfini, 1971, Lancet.

Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.

A. Simeone, A. Pizzuti, R. Taramelli, 1998, Genomics.

Turner syndrome patients are H-Y positive

H. Hameister, O. Zuffardi, M. Fraccaro, 2004, Human Genetics.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

UKCCCR guidelines for the use of cell lines in cancer research

T. Thangarajah, M. Hattori, N. Saitou, 1999, Cytogenetic and Genome Research.

Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.

G. Gimelli, O. Zuffardi, M. Fraccaro, 1991, Annales de genetique.

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.

A. Cometa, M. Daidone, N. Zaffaroni, 2007, Cancer research.

Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24.

L. Zardi, O. Zuffardi, G. Arrigo, 1997, Cytogenetics and cell genetics.

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

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

Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events

M. Suico, T. Shuto, H. Kai, 2022, Frontiers in Genome Editing.

Genomic structure and chromosomal location of the human TGFβ‐receptor interacting protein‐1 (TRIP‐1) gene to 1p34.1

O. Zuffardi, D. Corona, D. Rossi, 1998, FEBS letters.

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment

O. Zuffardi, M. Fraccaro, G. Simoni, 2004, Human Genetics.

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, McKusick) is at Xq28, distal to the G6PD locus

O. Zuffardi, M. Fraccaro, 2004, Human Genetics.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

Alazami syndrome: the first case of papillary thyroid carcinoma

S. Bernasconi, S. Piana, L. Garavelli, 2019, Journal of Human Genetics.

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

C. Longo, S. Piana, M. Tartaglia, 2023, Frontiers in 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.

Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene.

R. Parenti, F. Cicirata, F. Tuorto, 2000, Gene.

Definition of the neurological phenotype associated with dup (X)(p11.22–p11.23)

S. Buono, C. Romano, S. Reitano, 2011, Epileptic disorders : international epilepsy journal with videotape.

Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23

G. Camerino, B. Bardoni, S. Nicolis, 1991, Human Genetics.

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.

A. Cometa, M. Daidone, N. Zaffaroni, 2007, Cancer research.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular 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.

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

O. Zuffardi, T. Mattina, M. Bonaglia, 2023, Frontiers in genetics.

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

R. Giorda, O. Zuffardi, G. Peters, 2008, European journal of medical genetics.

Partial trisomy 3q in a newborn female

O. Zuffardi, W. Schmid, A. Carbonara, 1977, La Ricerca in clinica e in laboratorio.

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes

Charlotte N. Henrichsen, A. Reymond, S. Gimelli, 2010, American Journal of Medical Genetics. Part A.

Ring syndrome: still true?

O. Zuffardi, N. Aziz, M. V. van Belzen, 2008, Journal of Medical Genetics.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, P. Stankiewicz, L. Lagae, 2019, Epilepsia.

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia

K. Sosta, S. Giglio, O. Zuffardi, 2005, American journal of medical genetics. Part A.

Cell‐cycle phases and genetic profile of bone marrow‐derived mesenchymal stromal cells expanded in vitro from healthy donors

G. Barosi, O. Zuffardi, G. Arrigo, 2011, Journal of cellular biochemistry.