P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders by Pamela Ajuyah Robertson, Alicia Byrne, Julie Ratliff, Audrey O'Neill, Marina DiStefano, Deepika Burkardt, Carlos Ferreira, Kerry Brown

Get full text

P155: The ClinGen framework for naming monogenic diseases* by Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg

Get full text

P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource by Ineke Cordova, Zo Bly, Jonathan Berg, Joanna Bulkley, Marina DiStefano, Teri Klein, Joannella Morales, Deborah Ritter, Erin Riggs

Get full text

Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review by Ilaria Marcantoni, Raffaella Assogna, Giulia Del Borrello, Marina Di Stefano, Martina Morano, Sofia Romagnoli, Chiara Leoni, Giulia Bruschi, Agnese Sbrollini, Micaela Morettini, Laura Burattini

Get full text

Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion by Ozlem Senol-Cosar, Rachel J. Roth Flach, Marina DiStefano, Anil Chawla, Sarah Nicoloro, Juerg Straubhaar, Olga T. Hardy, Hye Lim Noh, Jason K. Kim, Martin Wabitsch, Philipp E. Scherer, Michael P. Czech

Get full text

Children With Inflammatory Bowel Disease in the COVID-19 Main Endemic Focus: The Lombardy Experience by Naire Sansotta, Lorenzo Norsa, Giovanna Zuin, Roberto Panceri, Dario Dilillo, Elena Pozzi, Costantino De Giacomo, Chiara Moretti, Rosaria Celano, Federica Nuti, Paola Sgaramella, Marina Di Stefano, Silvia Salvatore, Serena Arrigo, Valentina Motta, Lorenzo D'Antiga

Get full text

P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI) by Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein

Get full text

P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

Get full text

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions by Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

Get full text

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* by Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

Get full text

Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and... by Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti, Naire Sansotta, Silvia Caimmi, Salvatore Savasta, Giovanna Zuin, Marina Di Stefano, Silvia Provera, Angelo Campanozzi, Paolo Rossi, Simona Gatti, Mara Corpino, Patrizia Alvisi, Stefano Martelossi, Agnese Suppiej, Paolo Gandullia, Alberto Verrotti, Gianluca Terrin, Caterina Pacenza, Fabiola Fornaroli, Donatella Comito, Stefano D’Arrigo, Pasquale Striano, Federico Raviglione, Marco Carotenuto, Alessandro Orsini, Vincenzo Belcastro, Giovanna Di Corcia, Vincenzo Raieli, Michela Ada Noris Ferilli, Claudia Ruscitto, Elisabetta Spadoni, Salvatore Grosso, Renato D’Alonzo, Amanda Papa, Piero Pavone, Mariaclaudia Meli, Mario Velardita, Martina Mainetti, Nicola Vanacore, Osvaldo Borrelli

Get full text