Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways

by Aayushi Srivastava, Abhishek Kumar, Sara Giangiobbe, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Published 2019-10-01

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

by Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
Published 2018-08-01

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

by Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Sara Giangiobbe, Sara Giangiobbe, Abhishek Kumar, Nagarajan Paramasivam, Dagmara Dymerska, Wolfgang Behnisch, Mathias Witzens-Harig, Jan Lubinski, Kari Hemminki, Kari Hemminki, Asta Försti, Asta Försti, Asta Försti, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli
Published 2020-03-01

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer

by Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Sara Giangiobbe, Sara Giangiobbe, Diamanto Skopelitou, Diamanto Skopelitou, Diamanto Skopelitou, Diamanto Skopelitou, Beiping Miao, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Kari Hemminki, Asta Försti, Asta Försti, Asta Försti, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli
Published 2021-02-01

Deregulation of MiR-34b/Sox2 Predicts Prostate Cancer Progression.

by Irene Forno, Stefano Ferrero, Maria Veronica Russo, Giacomo Gazzano, Sara Giangiobbe, Emanuele Montanari, Alberto Del Nero, Bernardo Rocco, Giancarlo Albo, Lucia R Languino, Dario C Altieri, Valentina Vaira, Silvano Bosari
Published 2015-01-01

Whole-Exome Sequencing Identifies a Novel Germline Variant in <i>PTK7</i> Gene in Familial Colorectal Cancer

by Beiping Miao, Diamanto Skopelitou, Aayushi Srivastava, Sara Giangiobbe, Dagmara Dymerska, Nagarajan Paramasivam, Abhishek Kumar, Magdalena Kuświk, Wojciech Kluźniak, Katarzyna Paszkowska-Szczur, Matthias Schlesner, Jan Lubinski, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Published 2022-01-01

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

by Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga
Published 2021-09-01

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>

by Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
Published 2019-10-01

Characterization of rare germline variants in familial multiple myeloma

by Calogerina Catalano, Nagarajan Paramasivam, Joanna Blocka, Sara Giangiobbe, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam de Jong, Christian Langer, Klaus-Dieter Preuss, Björn Nilsson, Brian Durie, Hartmut Goldschmidt, Obul Reddy Bandapalli, Kari Hemminki, Asta Försti
Published 2021-02-01

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

by Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Published 2021-08-01