Molecular Diagnostics, Human Genetics

Description

We perform molecular diagnostics on several rare diseases (Fragile-X, Prader-Willi and Angelman syndromes, epilepsy and epileptic encephalopathies) and collaborate to a variety of research projects. Among them, we analyze the association between human genome variations and the risk of dyslexia, ADHD and depression; we characterize the association of stress in premature birth and epigenetic markers, such as gene methylation and telomere length; we study chromosomal rearrangements and other disease-causing variations in subjects with developmental disorders.

Selected Publications (last 5 years)

The complete list of publications can be found on ResearchGate (https://www.researchgate.net/) or Google Scholar (http://scholar.google.it/citations?user=U8C3lr8AAAAJ&hl=en)

1: Riva V, Cantiani C, Benasich AA, Molteni M, Piazza C, Giorda R, Dionne G,Marino C. From CNTNAP2 to Early Expressive Language in Infancy: The Mediation Role of Rapid Auditory Processing. Cereb Cortex. 2017 May 11:1-9. doi:10.1093/cercor/bhx115. [Epub ahead of print] PubMed PMID: 28498932.

2: Romaniello R, Marelli S, Giorda R, Bedeschi MF, Bonaglia MC, Arrigoni F,Triulzi F, Bassi MT, Borgatti R. Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum. J Child Neurol. 2017 Jan;32(1):60-71. doi: 10.1177/0883073816664668. Epub 2016 Sep 29. PubMed PMID: 27683483.

3: Mascheretti S, Trezzi V, Giorda R, Boivin M, Plourde V, Vitaro F, Brendgen M, Dionne G, Marino C. Complex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples. J Child Psychol Psychiatry. 2017 Jan;58(1):75-82. doi: 10.1111/jcpp.12612. Epub 2016 Aug 8. PubMed PMID: 27501527.

4: Provenzi L, Giorda R, Beri S, Montirosso R. SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: A systematic review of literature. Neurosci Biobehav Rev. 2016 Dec;71:7-20. doi: 10.1016/j.neubiorev.2016.08.021. Epub 2016 Aug 24. Review. PubMed PMID: 27565518.

5: Montirosso R, Provenzi L, Giorda R, Fumagalli M, Morandi F, Sirgiovanni I, Pozzoli U, Grunau R, Oberlander TF, Mosca F, Borgatti R. SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants. Epigenomics. 2016 Jul;8(7):895-907. doi: 10.2217/epi-2016-0010. Epub 2016 Jul 6. PubMed PMID: 27381173.

6: Nobile M, Bianchi V, Monzani D, Beri S, Bellina M, Greco A, Colombo P, Tesei A, Caldirola D, Giorda R, Perna G, Molteni M. Effect of family structure and TPH2 G-703T on the stability of dysregulation profile throughout adolescence. J Affect Disord. 2016 Jan 15;190:576-584. doi: 10.1016/j.jad.2015.10.057. Epub 2015 Nov 4. PubMed PMID: 26583347.

7: Montirosso R, Provenzi L, Fumagalli M, Sirgiovanni I, Giorda R, Pozzoli U, Beri S, Menozzi G, Tronick E, Morandi F, Mosca F, Borgatti R. Serotonin Transporter Gene (SLC6A4) Methylation Associates With Neonatal Intensive Care Unit Stay and 3-Month-Old Temperament in Preterm Infants. Child Dev. 2016 Jan-Feb;87(1):38-48. doi: 10.1111/cdev.12492. PubMed PMID: 26822441.

8: Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection 2015. PubMed PMID: 26582469; PubMed Central PMCID: PMC4650292.

9: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. PubMed PMID: 25351776; PubMed Central PMCID: PMC4795112.

10: Riva V, Battaglia M, Nobile M, Cattaneo F, Lazazzera C, Mascheretti S, Giorda R, Mérette C, Émond C, Maziade M, Marino C. GRIN2B predicts attention problems among disadvantaged children. Eur Child Adolesc Psychiatry. 2015 Jul;24(7):827-36. doi: 10.1007/s00787-014-0627-7. Epub 2014 Oct 16. PubMed PMID: 25316095.

11: Mascheretti S, Bureau A, Trezzi V, Giorda R, Marino C. An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia. Hum Genet. 2015 Jul;134(7):749-60. doi: 10.1007/s00439-015-1555-4. Epub 2015 Apr 28. PubMed PMID: 25916574.

12: Provenzi L, Fumagalli M, Sirgiovanni I, Giorda R, Pozzoli U, Morandi F, Beri S, Menozzi G, Mosca F, Borgatti R, Montirosso R. Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants. Front Behav Neurosci. 2015 Apr 21;9:99. doi: 10.3389/fnbeh.2015.00099. eCollection 2015. PubMed PMID: 25941480; PubMed Central PMCID: PMC4403508.

13: Decio A, Tonduti D, Pichiecchio A, Vetro A, Ciccone R, Limongelli I, Giorda R, Caffi L, Balottin U, Zuffardi O, Orcesi S. A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events. Am J Med Genet A. 2015 Apr;167A(4):810-5. doi: 10.1002/ajmg.a.36907. Epub 2015 Feb 23. PubMed PMID: 25706114.

14: Riva V, Marino C, Giorda R, Molteni M, Nobile M. The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems. Eur Child Adolesc Psychiatry. 2015 Mar;24(3):309-18. doi: 10.1007/s00787-014-0580-5. Epub 2014 Jul 11. PubMed PMID: 25012462.

15: Mascheretti S, Facoetti A, Giorda R, Beri S, Riva V, Trezzi V, Cellino MR, Marino C. GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia. Psychiatr Genet. 2015 Feb;25(1):9-20. doi: 10.1097/YPG.0000000000000068. PubMed PMID: 25426763.

16: Nobile M, Greco A, Perna G, Colombo P, Bianchi V, Bellina M, Giorda R, Monzani D, Carlet O, Griez E, Molteni M. Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence. Epidemiol Psychiatr Sci. 2014 Dec;23(4):399-409. doi: 10.1017/S2045796013000565. Epub 2013 Oct 22. PubMed PMID: 24148106.

17: Bonaglia MC, Giorda R, Zanini S. 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. Mol Cytogenet. 2014 Aug 5;7:53. doi: 10.1186/1755-8166-7-53. eCollection 2014. PubMed PMID: 25126114; PubMed Central PMCID: PMC4131807.

18: Marino C, Scifo P, Della Rosa PA, Mascheretti S, Facoetti A, Lorusso ML, Giorda R, Consonni M, Falini A, Molteni M, Gruen JR, Perani D. The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia. Cortex. 2014 Aug;57:227-43. doi: 10.1016/j.cortex.2014.04.016. Epub 2014 May 9. PubMed PMID: 24926531.

19: Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion. Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26. PubMed PMID: 24780630.

20: Mascheretti S, Riva V, Giorda R, Beri S, Lanzoni LF, Cellino MR, Marino C. KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia. J Hum Genet. 2014 Apr;59(4):189-97. doi: 10.1038/jhg.2013.141. Epub 2014 Jan 16. PubMed PMID: 24430574.

21: Baroncini A, Bertuzzo S, Quarantini R, Ricciardelli P, Giorda R, Bonaglia MC. 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. Mol Cytogenet. 2013 Nov 8;6(1):49. doi: 10.1186/1755-8166-6-49. PubMed PMID: 24206642; PubMed Central PMCID: PMC4176195.

22: Beri S, Bonaglia MC, Giorda R. Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements. Eur J Hum Genet. 2013 Jul;21(7):757-61. doi: 10.1038/ejhg.2012.235. Epub 2012 Oct 17. PubMed PMID: 23073313; PubMed Central PMCID: PMC3722940.

23: Mascheretti S, Bureau A, Battaglia M, Simone D, Quadrelli E, Croteau J, Cellino MR, Giorda R, Beri S, Maziade M, Marino C. An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes. Genes Brain Behav. 2013 Feb;12(1):47-55. doi: 10.1111/gbb.12000. Epub 2012 Nov 24. PubMed PMID: 23176554.

24: Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18. PubMed PMID: 23085304.

Partnerships

Clara Bonaglia (This email address is being protected from spambots. You need JavaScript enabled to view it.), Cytogenetics Lab, E. Medea Scientific Institute, Bosisio Parini, LC, Italy.

Sara Mascheretti (Sara This email address is being protected from spambots. You need JavaScript enabled to view it.), Maria Nobile (This email address is being protected from spambots. You need JavaScript enabled to view it.), Valentina Riva (This email address is being protected from spambots. You need JavaScript enabled to view it.), Chiara Cantiani (This email address is being protected from spambots. You need JavaScript enabled to view it.), Department of Child Psychiatry, E. Medea Scientific Institute, Bosisio Parini, LC, Italy.

Rosario Montirosso (This email address is being protected from spambots. You need JavaScript enabled to view it.), Centre for the Study of Social Emotional Development of the At-Risk Infant, E. Medea Scientific Institute, Bosisio Parini, LC, Italy.

Paolo Brambilla (This email address is being protected from spambots. You need JavaScript enabled to view it.), Department of Medical and Transplant Physiopathology, University of Milan, Milan, Italy.

Cecilia Marino (This email address is being protected from spambots. You need JavaScript enabled to view it.), Centre de recherche de l’Institut universitaire en santé mentale de Québec and Department of Psychiatry and Neuroscience, Laval University, Québec, Canada.

Orsetta Zuffardi (This email address is being protected from spambots. You need JavaScript enabled to view it.), Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Giampaolo Perna (This email address is being protected from spambots. You need JavaScript enabled to view it.), Daniela Caldirola (This email address is being protected from spambots. You need JavaScript enabled to view it.), Department of Clinical Neurosciences, FoRiPsi, , Albese con Cassano, CO, Italy