Sara Giangiobbe

Medical geneticist with wide experience in all fields of genetic counseling (prenatal, preconception, oncologic and pediatric), competent in both the clinical and laboratory aspects of medical genetics.

Miao B, Skopelitou D, Srivastava A, Giangiobbe S, Dymerska D, Paramasivam N, Kumar A, Kuświk M, Kluźniak W, Paszkowska-Szczur K, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. Int J Mol Sci. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295.PMID: 35163215.

Tran C, Turolla L, Ballhausen D, Buros SC, Teav T, Gallart-Ayala H, Ivanisevic J, Faouzi M, Lefeber DJ, Ivanovski I, Giangiobbe S, Caraffi SG, Garavelli L, Superti-Furga A. The fate of orally administered sialic acid: First insights from patients with N- acetylneuraminic acid synthase deficiency and control subjects. Mol Genet Metab Rep. 2021 Jun 26;28:100777. doi: 10.1016/j.ymgmr.2021.100777. eCollection 2021 Sep.PMID: 34258226

Srivastava A, Giangiobbe S, Skopelitou D, Miao B, Paramasivam N, Diquigiovanni C, Bonora E, Hemminki K, Försti A, Bandapalli OR. Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer. Front Endocrinol (Lausanne). 2021 Feb 22;12:600682. doi: 10.3389/fendo.2021.600682. eCollection 2021.PMID: 33692755

Catalano C, Paramasivam N, Blocka J, Giangiobbe S, Huhn S, Schlesner M, Weinhold N, Sijmons R, de Jong M, Langer C, Preuss KD, Nilsson B, Durie B, Goldschmidt H, Bandapalli OR, Hemminki K, Försti A. Characterization of rare germline variants in familial multiple myeloma. Blood Cancer J. 2021 Feb 13;11(2):33. doi: 10.1038/s41408-021-00422 6.PMID: 33583942

Peretto G, Barzaghi F, Cicalese MP, Resta CD, Slavich M, Benedetti S, Giangiobbe S, Rizzo S, Palmisano A, Esposito A, De Cobelli F, Gulletta S, Basso C, Casari G, Aiuti A, Bella PD, Sala S.Immunosuppressive therapy in childhood-onset arrhythmogenic inflammatory cardiomyopathy. Pacing Clin Electrophysiol. 2020 Dec 29. doi: 10.1111/pace.14153. Online ahead of print. PMID: 33372694

Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. Am J Med Genet A 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11.

PMID: 33043602

Srivastava A*, Giangiobbe S*, Kumar A, Paramasivam N, Dymerska D, Behnisch W, Witzens-Harig M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. Front Bioeng Biotechnol. 2020 Mar 6;8:179. doi: 10.3389/fbioe.2020.00179. eCollection 2020.

Srivastava A, Kumar A, Giangiobbe S, Bonora E, Hemminki K, Försti A, Bandapalli OR. Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways. Biomolecules. 2019 Oct 13;9(10). pii: E605. doi: 10.3390/biom9100605. PMID: 31614935

Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic- EDS-B3GALT6. Genes (Basel). 2019 Oct 12;10(10). piE799. doi: 10.3390/genes10100799. PMID: 31614862

Kumar A, Bandapalli OR, Paramasivam N, Giangiobbe S, Diquigiovanni C, Bonora E, Eils R, Schlesner M, Hemminki K, Försti A. Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family.
Sci Rep. 2018 Aug 2;8(1):11635. doi: 10.1038/s41598-018-29952-z. PMID:30072699

Bandapalli OR*, Paramasivam N*, Giangiobbe S*, Kumar A, Benisch W, Engert A, Witzens-Harig M, Schlesner M, Hemminki K, Försti A. Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma. Int J Cancer. 2018 Apr 30. doi: 10.1002/ijc.31576. PMID: 29708584

Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT. A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature. J Endocrinol Invest. 2018 Jan 4. doi: 10.1007/s40618-017-0819-3. PMID: 29302920

Silipigni R, Monfrini E, Baccarin M, Giangiobbe S, Lalatta F, Guerneri S, Bedeschi MF. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.Cytogenet Genome Res. 2017;153(2):73-80. doi: 10.1159/000485226. Epub 2017 Dec 20.PMID: 29258113

Bedeschi MF*, Giangiobbe S*, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. STAR syndrome plus: The first description of a female patient with the lethal form.Am J Med Genet A. 2017 Dec;173(12):3226- 3230. doi: 10.1002/ajmg.a.38484. Ep ub 2017 Oct 31.PMID: 29088509

Forno I, Ferrero S, Russo MV, Gazzano G, Giangiobbe S, Montanari E, Del Nero A, Rocco B, Albo G, Languino LR, Altieri DC, Vaira V, Bosari S. Deregulation of MiR- 34b/Sox2 Predicts Prostate Cancer Progression.PLoS One. 2015 Jun 24;10(6):e0130060. doi: 10.1371/journal.pone.0130060. eCollection 2015.PMID: 26107383

Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6. PMID: 24211324

Miao B, Skopelitou D, Srivastava A, Giangiobbe S, Dymerska D, Paramasivam N, Kumar A, Kuświk M, Kluźniak W, Paszkowska-Szczur K, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. Int J Mol Sci. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295.PMID: 35163215.

Tran C, Turolla L, Ballhausen D, Buros SC, Teav T, Gallart-Ayala H, Ivanisevic J, Faouzi M, Lefeber DJ, Ivanovski I, Giangiobbe S, Caraffi SG, Garavelli L, Superti-Furga A. The fate of orally administered sialic acid: First insights from patients with N- acetylneuraminic acid synthase deficiency and control subjects. Mol Genet Metab Rep. 2021 Jun 26;28:100777. doi: 10.1016/j.ymgmr.2021.100777. eCollection 2021 Sep.PMID: 34258226

Srivastava A, Giangiobbe S, Skopelitou D, Miao B, Paramasivam N, Diquigiovanni C, Bonora E, Hemminki K, Försti A, Bandapalli OR. Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer. Front Endocrinol (Lausanne). 2021 Feb 22;12:600682. doi: 10.3389/fendo.2021.600682. eCollection 2021.PMID: 33692755

Catalano C, Paramasivam N, Blocka J, Giangiobbe S, Huhn S, Schlesner M, Weinhold N, Sijmons R, de Jong M, Langer C, Preuss KD, Nilsson B, Durie B, Goldschmidt H, Bandapalli OR, Hemminki K, Försti A. Characterization of rare germline variants in familial multiple myeloma. Blood Cancer J. 2021 Feb 13;11(2):33. doi: 10.1038/s41408-021-00422 6.PMID: 33583942

Peretto G, Barzaghi F, Cicalese MP, Resta CD, Slavich M, Benedetti S, Giangiobbe S, Rizzo S, Palmisano A, Esposito A, De Cobelli F, Gulletta S, Basso C, Casari G, Aiuti A, Bella PD, Sala S.Immunosuppressive therapy in childhood-onset arrhythmogenic inflammatory cardiomyopathy. Pacing Clin Electrophysiol. 2020 Dec 29. doi: 10.1111/pace.14153. Online ahead of print. PMID: 33372694

Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. Am J Med Genet A 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11.

PMID: 33043602

Srivastava A*, Giangiobbe S*, Kumar A, Paramasivam N, Dymerska D, Behnisch W, Witzens-Harig M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. Front Bioeng Biotechnol. 2020 Mar 6;8:179. doi: 10.3389/fbioe.2020.00179. eCollection 2020.

Srivastava A, Kumar A, Giangiobbe S, Bonora E, Hemminki K, Försti A, Bandapalli OR. Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways. Biomolecules. 2019 Oct 13;9(10). pii: E605. doi: 10.3390/biom9100605. PMID: 31614935

Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature ofSpondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic- EDS-B3GALT6. Genes (Basel). 2019 Oct 12;10(10). pii: E799. doi: 10.3390/genes10100799. PMID: 31614862

Kumar A, Bandapalli OR, Paramasivam N, Giangiobbe S, Diquigiovanni C, Bonora E, Eils R, Schlesner M, Hemminki K, Försti A. Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family.
Sci Rep. 2018 Aug 2;8(1):11635. doi: 10.1038/s41598-018-29952-z. PMID:30072699

Bandapalli OR*, Paramasivam N*, Giangiobbe S*, Kumar A, Benisch W, Engert A, Witzens-Harig M, Schlesner M, Hemminki K, Försti A. Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma. Int J Cancer. 2018 Apr 30. doi: 10.1002/ijc.31576. PMID: 29708584

Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT. A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature. J Endocrinol Invest. 2018 Jan 4. doi: 10.1007/s40618-017-0819-3. PMID: 29302920

Silipigni R, Monfrini E, Baccarin M, Giangiobbe S, Lalatta F, Guerneri S, Bedeschi MF. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.Cytogenet Genome Res. 2017;153(2):73-80. doi: 10.1159/000485226. Epub 2017 Dec 20.PMID: 29258113

Bedeschi MF*, Giangiobbe S*, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. STAR syndrome plus: The first description of a female patient with the lethal form.Am J Med Genet A. 2017 Dec;173(12):3226- 3230. doi: 10.1002/ajmg.a.38484. Ep ub 2017 Oct 31.PMID: 29088509

Forno I, Ferrero S, Russo MV, Gazzano G, Giangiobbe S, Montanari E, Del Nero A, Rocco B, Albo G, Languino LR, Altieri DC, Vaira V, Bosari S. Deregulation of MiR- 34b/Sox2 Predicts Prostate Cancer Progression.PLoS One. 2015 Jun 24;10(6):e0130060. doi: 10.1371/journal.pone.0130060. eCollection 2015.PMID: 26107383

Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6. PMID: 24211324