M. Bonaglia

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A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

Roberto Giorda, Maria Clara Bonaglia, S. Zanini, 2014, Molecular Cytogenetics.

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

R. Giorda, O. Zuffardi, A. Massagli, 2009, European Journal of Human Genetics.

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.

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.

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.

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.

Role of mycotoxins in the pathobiology of autism: A first evidence

M. Molteni, A. Mezzelani, C. Brera, 2017, Nutritional neuroscience.

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.

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 .

A novel CLN8 mutation in late‐infantile‐onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

N. Bresolin, E. Clementi, D. Riva, 2009, Human mutation.

Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

R. Borgatti, A. Righini, C. Parazzini, 2021, Annals of clinical and translational neurology.

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

R. Borgatti, R. Giorda, F. Triulzi, 2017, Journal of child neurology.

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

J. Nevado, E. Vallespín, L. Rodríguez, 2011, American journal of medical genetics. Part A.

Partial deletion of DEPDC5 in a child with focal epilepsy

C. Zucca, R. Giorda, J. Andrieux, 2016, Epilepsia open.

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.

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient

N. Bresolin, G. Comi, R. Cagliani, 2003, Neuromuscular Disorders.

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

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

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.

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.

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.

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

N. Bresolin, G. Comi, R. Cagliani, 2003, Neuromuscular Disorders.

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

Roberto Giorda, Maria Clara Bonaglia, R. Giorda, 2012, European Journal of Human Genetics.

DNA methylation regulates tissue‐specific expression of Shank3

C. Sala, G. Menozzi, R. Giorda, 2007, Journal of neurochemistry.

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

D. Pinto, S. Scherer, J. Sutcliffe, 2010, Journal of Medical 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.

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.

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.

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

A. Battaglia, M. Bonaglia, 2006, American journal of medical genetics. Part C, Seminars in medical 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.

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

A. Federico, S. Giglio, O. Zuffardi, 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.

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.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004, Journal of Medical Genetics.

20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004 .

Reciprocal translocations: a trap for cytogenetists?

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

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

R. Borgatti, R. Giorda, A. Selicorni, 2003, Journal of medical genetics.

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.

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.

Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

M. Fichera, C. Romano, P. Failla, 2023, Genes & Genomics.

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

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

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.

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

L. Vitale, A. Piovesan, F. Antonaros, 2022, BMC medical genomics.

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

R. Giorda, A. Massagli, M. Bonaglia, 2014, European journal of medical 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.

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

N. Bresolin, M. Clerici, M. Fumagalli, 2010, Human Genetics.

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.

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.

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.

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.

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

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

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

Maria Clara Bonaglia, Umberto Balottin, N. Bresolin, 2006, Pediatric neurology.

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

R. Giorda, A. Baroncini, M. Bonaglia, 2013, Molecular Cytogenetics.

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.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

E. Aten, B. Anderlid, A. Tabet, 2023, European journal of medical 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 .

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome.

C. V. van Ravenswaaij-Arts, S. Jesse, M. Bonaglia, 2023, European journal of medical genetics.

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing

R. Borgatti, A. Righini, E. Valente, 2021, The Cerebellum.

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

S. Zanini, R. Giorda, M. Bonaglia, 2014, Molecular Cytogenetics.

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

C. Zucca, R. Giorda, N. Zanotta, 2015, Molecular Cytogenetics.

De novo unbalanced translocations have a complex history/aetiology

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

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.

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.

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.

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

C. Zucca, R. Giorda, N. Zanotta, 2015, Molecular Cytogenetics.

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

M. Carella, M. Accadia, O. Palumbo, 2017, European journal of medical genetics.

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.