Francesco Brancati

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Human mutation

PLoS pathogens

University of L'Aquila

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of L'Aquila Jun 01 2016

Italy

Professor :: Medical Genetics

Publications

Adrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome medicine 16 (1) (2024)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël L E Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. European journal of human genetics : EJHG (2023)
Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández Jaén, Olson J Rory, Benedikt Hallgrimsson, Ramon Y Birnbaum
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations. Genome research 32 (7) (2022)
Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, Antonella Riva, Barbara Carlini, Letizia Camerota, Vincenzo Belcastro, Paolo Prontera, Alberto Fernández Jaén, Nerses Bebek, Paolo Scudieri, Simona Baldassari, Vincenzo Salpietro, Giuseppe Novelli, Chiara De Luca, Celina von Stülpnagel, Felicitas Kluger, Gerhard Josef Kluger, Gabriele Christine Wohlrab, Georgia Ramantani, David Lewis-Smith, Rhys Huw Thomas, Ming Lai, Alberto Verrotti, Salvatore Striano, Christel Depienne, Carlo Minetti, Fabio Benfenati, Francesco Brancati, Federico Zara, Pasquale Striano
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. Neurology 97 (6) (2021)
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). International journal of molecular sciences 22 (3) (2021)
Giacomo Cinnirella, Rachel L Taylor, Claudio Coco, Francesca Piludu, Antonello Vidiri, Lorenzo Sinibaldi, Uwe Kornak, Graeme Black, Francesco Brancati
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders. Clinical genetics 98 (4) (2020)
Susana Isabel Ferreira, Giacomo Cinnirella, Lina Ramos, Antonio Suppa, Luís Miguel Pires, Anna Maria Nardone, Letizia Camerota, Silvia Lanciotti, Cinzia Galasso, Fernando De Maio, Joana Barbosa de Melo, Isabel Marques Carreira, Francesco Brancati
Tremor is a major feature of 9p13 deletion syndrome. American journal of medical genetics. Part A 182 (11) (2020)
Brigitta M Laksono, Paola Fortugno, Bernadien M Nijmeijer, Rory D de Vries, Sonia Cordisco, Thijs Kuiken, Teunis B H Geijtenbeek, W Paul Duprex, Francesco Brancati, Rik L de Swart
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis. PLoS pathogens 16 (10) (2020)
Raffaella Rossetti, Ilaria Ferrari, Ilaria Bestetti, Silvia Moleri, Francesco Brancati, Luisa Petrone, Palma Finelli, Luca Persani
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency. Human mutation 41 (5) (2020)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)
Paola Fortugno, Francesco Angelucci, Gianluca Cestra, Letizia Camerota, Angelo Salvatore Ferraro, Sonia Cordisco, Luigi Uccioli, Daniele Castiglia, Barbara De Angelis, Ingo Kurth, Uwe Kornak, Francesco Brancati
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI. Human mutation 40 (1) (2018)
Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza, Stefano Castellana, Jurgen Tomassi, Silvia Lanciotti, Stefan Mundlos, Raoul C Hennekam, Uwe Kornak, Francesco Brancati
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American journal of medical genetics. Part A 176 (9) (2018)
Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A Otto, null null
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. European journal of human genetics : EJHG 26 (9) (2018)

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Publication Activity (10 Years)

Top Topics

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Francesco Brancati