Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
Get full text
Journal Article
“Spot diagnosis” or “spot the diagnosis”?
Benedicenti, Francesco, Stanzial, Franco, Wischmeijer, Anita, Inzana, Francesca
Published in Journal of the neurological sciences (15.08.2017)
Published in Journal of the neurological sciences (15.08.2017)
Get full text
Journal Article
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
Get full text
Journal Article
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
Get full text
Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
KRIEGER, Michael, ROOS, Andreas, FINKEL, Richard S, GOEBEL, Hans H, HÄUSSLER, Martin, KINGSTON, Helen, KIRSCHNER, Janbernd, MEDNE, Livija, MUSCHKE, Petra, RIVIER, François, RUDNIK-SCHÖNEBORN, Sabine, SPENGLER, Sabrina, STENDEL, Claudia, INZANA, Francesca, STANZIAL, Franco, BENEDICENTI, Francesco, SYNOFZIK, Matthis, TARATUTO, Ana Lia, PIRRA, Laura, TAY STACEY, Kiat-Hong, TOPALOGLU, Haluk, UYANIK, Gökhan, WAND, Dorothea, CLAEYS, Kristl G, WILLIAMS, Denise, ZERRES, Klaus, WEIS, Joachim, SENDEREK, Jan, SONMEZ, Fatma Mujgan, BAUDIS, Michael, BAUER, Peter, BORNEMANN, Antje, DE GOEDE, Christian, DUFKE, Andreas
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
Get full text
Journal Article
Response to Hall et al
Chong, Jessica X, Talbot, Jared C, Teets, Emily M, Previs, Samantha, Martin, Brit L, Shively, Kathryn M, Marvin, Colby T, Aylsworth, Arthur S, Saadeh-Haddad, Reem, Schatz, Ulrich A, Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J, Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M, Nayak, Shalini S, Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A, Warshaw, David, Janssen, Paul M, Amacher, Sharon L, Bamshad, Michael J
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
Get full text
Journal Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
Novara, Francesca, Stanzial, Franco, Rossi, Elena, Benedicenti, Francesco, Inzana, Francesca, Di Gregorio, Eleonora, Brusco, Alfredo, Graakjaer, Jesper, Fagerberg, Christina, Belligni, Elga, Silengo, Margherita, Zuffardi, Orsetta, Ciccone, Roberto
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
Get full text
Journal Article
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing
Nicchia, Elena, Benedicenti, Francesco, De Rocco, Daniela, Greco, Chiara, Bottega, Roberta, Inzana, Francesca, Faleschini, Michela, Bonin, Serena, Cappelli, Enrico, Mogni, Massimo, Stanzial, Franco, Svahn, Johanna, Dufour, Carlo, Savoia, Anna
Published in Birth defects research. A Clinical and molecular teratology (01.12.2015)
Published in Birth defects research. A Clinical and molecular teratology (01.12.2015)
Get more information
Journal Article
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
Pizzuti, Antonio, Bottillo, Irene, Inzana, Francesca, Lanari, Valentina, Buttarelli, Francesca, Torrente, Isabella, Giallonardo, Anna Teresa, De Luca, Alessandro, Dallapiccola, Bruno
Published in Neurogenetics (01.08.2011)
Published in Neurogenetics (01.08.2011)
Get full text
Journal Article
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
Chong, Jessica X, Talbot, Jared C, Teets, Emily M, Previs, Samantha, Martin, Brit L, Shively, Kathryn M, Marvin, Colby T, Aylsworth, Arthur S, Saadeh-Haddad, Reem, Schatz, Ulrich A, Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J, Harel, Tamar, Mor-Shaked, Hagar, Periyasamy Radhakrishnan, Girisha, Katta M, Nayak, Shalini S, Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A, Warshaw, David, Janssen, Paul M, University Of Washington Center For Mendelian Genomics, Amacher, Sharon L, Bamshad, Michael J
Published in bioRxiv (08.05.2020)
Published in bioRxiv (08.05.2020)
Get full text
Paper