Francesco Musacchia

Affiliations

Department of Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn, Villa Comunale, SZN, 80121, Naples, Italy.

Publications (13)

Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain.

BMC biology

Avec: Giuseppe Petrosino , Giovanna Ponte , Massimiliano Volpe , Ilaria Zarrella , Federico Ansaloni , Concetta Langella , Giulia Di Cristina , Sara Finaurini , Monia T Russo , Swaraj Basu , Francesco Musacchia , Filomena Ristoratore , Dinko Pavlinic , Vladimir Benes , Maria I Ferrante , Caroline Albertin , Oleg Simakov , Stefano Gustincich , Graziano Fiorito , Remo Sanges

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth defects research

Avec: Andrea Accogli , Marcello Scala , Marco Pavanello , Mariasavina Severino , Carlo Gandolfo , Patrizia De Marco , Francesco Musacchia , Annalaura Torella , Michele Pinelli , Vincenzo Nigro , Valeria Capra

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.

American journal of medical genetics. Part A

Avec: Erika Solansh Apuril Velgara , Milena Mariani , Annalaura Torella , Francesco Musacchia , Auteur inconnu , Vincenzo Nigro , Angelo Selicorni

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

European journal of human genetics : EJHG

Avec: Elisa Benetti , Rossella Tita , Ottavia Spiga , Andrea Ciolfi , Giovanni Birolo , Alessandro Bruselles , Gabriella Doddato , Annarita Giliberti , Caterina Marconi , Francesco Musacchia , Tommaso Pippucci , Annalaura Torella , Alfonso Trezza , Floriana Valentino , Margherita Baldassarri , Alfredo Brusco , Rosanna Asselta , Mirella Bruttini , Simone Furini , Marco Seri , Vincenzo Nigro , Giuseppe Matullo , Marco Tartaglia , Francesca Mari , Auteur inconnu , Alessandra Renieri , Anna Maria Pinto

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Investigative ophthalmology & visual science

Avec: Valentina Di Iorio , Marianthi Karali , Paolo Melillo , Francesco Testa , Raffaella Brunetti-Pierri , Francesco Musacchia , Christel Condroyer , John Neidhardt , Isabelle Audo , Christina Zeitz , Sandro Banfi , Francesca Simonelli

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

International journal of molecular sciences

Avec: Marianthi Karali , Francesco Testa , Raffaella Brunetti-Pierri , Valentina Di Iorio , Mariateresa Pizzo , Paolo Melillo , Maria Rosaria Barillari , Annalaura Torella , Francesco Musacchia , Luigi D'Angelo , Sandro Banfi , Francesca Simonelli

Intraspecific Diversity in the Cold Stress Response of Transposable Elements in the Diatom

Genes

Avec: Aikaterini Pargana , Francesco Musacchia , Remo Sanges , Monia Teresa Russo , Maria Immacolata Ferrante , Chris Bowler , Adriana Zingone

A draft genome sequence of the elusive giant squid, Architeuthis dux.

GigaScience

Avec: Rute R da Fonseca , Alvarina Couto , Andre M Machado , Brona Brejova , Carolin B Albertin , Filipe Silva , Paul Gardner , Tobias Baril , Alex Hayward , Alexandre Campos , Ângela M Ribeiro , Inigo Barrio-Hernandez , Henk-Jan Hoving , Ricardo Tafur-Jimenez , Chong Chu , Barbara Frazão , Bent Petersen , Fernando Peñaloza , Francesco Musacchia , Graham C Alexander , Hugo Osório , Inger Winkelmann , Oleg Simakov , Simon Rasmussen , M Ziaur Rahman , Davide Pisani , Jakob Vinther , Erich Jarvis , Guojie Zhang , Jan M Strugnell , L Filipe C Castro , Olivier Fedrigo , Mateus Patricio , Qiye Li , Sara Rocha , Agostinho Antunes , Yufeng Wu , Bin Ma , Remo Sanges , Tomas Vinar , Blagoy Blagoev , Thomas Sicheritz-Ponten , Rasmus Nielsen , M Thomas P Gilbert

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

American journal of medical genetics. Part A

Avec: Margaux Serey-Gaut , Marcello Scala , Bruno Reversade , Lyse Ruaud , Christelle Cabrol , Francesco Musacchia , Annalaura Torella , Andrea Accogli , Nathalie Escande-Beillard , Jean Langlais , Gianluca Piatelli , Alessandro Consales , Vincenzo Nigro , Valeria Capra , Lionel Van Maldergem

Linked-Read Whole Genome Sequencing Solves a Double

Genes

Avec: Maria Elena Onore , Annalaura Torella , Francesco Musacchia , Paola D'Ambrosio , Mariateresa Zanobio , Francesca Del Vecchio Blanco , Giulio Piluso , Vincenzo Nigro

Therapeutic homology-independent targeted integration in retina and liver.

Nature communications

Avec: Patrizia Tornabene , Rita Ferla , Manel Llado-Santaeularia , Miriam Centrulo , Margherita Dell'Anno , Federica Esposito , Elena Marrocco , Emanuela Pone , Renato Minopoli , Carolina Iodice , Edoardo Nusco , Settimio Rossi , Hristiana Lyubenova , Anna Manfredi , Lucio Di Filippo , Antonella Iuliano , Annalaura Torella , Giulio Piluso , Francesco Musacchia , Enrico Maria Surace , Davide Cacchiarelli , Vincenzo Nigro , Alberto Auricchio

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.

Genes

Avec: Francesco Musacchia , Marianthi Karali , Annalaura Torella , Steve Laurie , Valeria Policastro , Mariateresa Pizzo , Sergi Beltran , Giorgio Casari , Vincenzo Nigro , Sandro Banfi

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

NPJ genomic medicine

Avec: German Demidov , Burcu Yaldiz , José Garcia-Pelaez , Elke de Boer , Nika Schuermans , Liedewei Van de Vondel , Ida Paramonov , Lennart F Johansson , Francesco Musacchia , Elisa Benetti , Gemma Bullich , Karolis Sablauskas , Sergi Beltran , Christian Gilissen , Alexander Hoischen , Stephan Ossowski , Richarda de Voer , Katja Lohmann , Carla Oliveira , Ana Topf , Lisenka E L M Vissers , Auteur inconnu , Steven Laurie

Réseau de co-auteurs

Annalaura Torella 8 collaborations

Vincenzo Nigro 7 collaborations

Remo Sanges 3 collaborations

None None 3 collaborations

Marianthi Karali 3 collaborations

Sandro Banfi 3 collaborations

Oleg Simakov 2 collaborations

Andrea Accogli 2 collaborations

Marcello Scala 2 collaborations

Valeria Capra 2 collaborations

Elisa Benetti 2 collaborations

Valentina Di Iorio 2 collaborations

Paolo Melillo 2 collaborations

Francesco Testa 2 collaborations

Raffaella Brunetti-Pierri 2 collaborations

Francesca Simonelli 2 collaborations

Mariateresa Pizzo 2 collaborations

Giulio Piluso 2 collaborations

Sergi Beltran 2 collaborations

Giuseppe Petrosino 1 collaboration

Giovanna Ponte 1 collaboration

Massimiliano Volpe 1 collaboration

Ilaria Zarrella 1 collaboration

Federico Ansaloni 1 collaboration

Concetta Langella 1 collaboration

Giulia Di Cristina 1 collaboration

Sara Finaurini 1 collaboration

Monia T Russo 1 collaboration

Swaraj Basu 1 collaboration

Filomena Ristoratore 1 collaboration

Dinko Pavlinic 1 collaboration

Vladimir Benes 1 collaboration

Maria I Ferrante 1 collaboration

Caroline Albertin 1 collaboration

Stefano Gustincich 1 collaboration

Graziano Fiorito 1 collaboration

Marco Pavanello 1 collaboration

Mariasavina Severino 1 collaboration

Carlo Gandolfo 1 collaboration

Patrizia De Marco 1 collaboration

Michele Pinelli 1 collaboration

Erika Solansh Apuril Velgara 1 collaboration

Milena Mariani 1 collaboration

Angelo Selicorni 1 collaboration

Rossella Tita 1 collaboration

Ottavia Spiga 1 collaboration

Andrea Ciolfi 1 collaboration

Giovanni Birolo 1 collaboration

Alessandro Bruselles 1 collaboration

Gabriella Doddato 1 collaboration

Annarita Giliberti 1 collaboration

Caterina Marconi 1 collaboration

Tommaso Pippucci 1 collaboration

Alfonso Trezza 1 collaboration

Floriana Valentino 1 collaboration

Margherita Baldassarri 1 collaboration

Alfredo Brusco 1 collaboration

Rosanna Asselta 1 collaboration

Mirella Bruttini 1 collaboration

Simone Furini 1 collaboration

Marco Seri 1 collaboration

Giuseppe Matullo 1 collaboration

Marco Tartaglia 1 collaboration

Francesca Mari 1 collaboration

Alessandra Renieri 1 collaboration

Anna Maria Pinto 1 collaboration

Christel Condroyer 1 collaboration

John Neidhardt 1 collaboration

Isabelle Audo 1 collaboration

Christina Zeitz 1 collaboration

Maria Rosaria Barillari 1 collaboration

Luigi D'Angelo 1 collaboration

Aikaterini Pargana 1 collaboration

Monia Teresa Russo 1 collaboration

Maria Immacolata Ferrante 1 collaboration

Chris Bowler 1 collaboration

Adriana Zingone 1 collaboration

Rute R da Fonseca 1 collaboration

Alvarina Couto 1 collaboration

Andre M Machado 1 collaboration

Brona Brejova 1 collaboration

Carolin B Albertin 1 collaboration

Filipe Silva 1 collaboration

Paul Gardner 1 collaboration

Tobias Baril 1 collaboration

Alex Hayward 1 collaboration

Alexandre Campos 1 collaboration

Ângela M Ribeiro 1 collaboration

Inigo Barrio-Hernandez 1 collaboration

Henk-Jan Hoving 1 collaboration

Ricardo Tafur-Jimenez 1 collaboration

Chong Chu 1 collaboration

Barbara Frazão 1 collaboration

Bent Petersen 1 collaboration

Fernando Peñaloza 1 collaboration

Graham C Alexander 1 collaboration

Hugo Osório 1 collaboration

Inger Winkelmann 1 collaboration

Simon Rasmussen 1 collaboration

M Ziaur Rahman 1 collaboration

Davide Pisani 1 collaboration

Jakob Vinther 1 collaboration

Erich Jarvis 1 collaboration

Guojie Zhang 1 collaboration

Jan M Strugnell 1 collaboration

L Filipe C Castro 1 collaboration

Olivier Fedrigo 1 collaboration

Mateus Patricio 1 collaboration

Qiye Li 1 collaboration

Sara Rocha 1 collaboration

Agostinho Antunes 1 collaboration

Yufeng Wu 1 collaboration

Bin Ma 1 collaboration

Tomas Vinar 1 collaboration

Blagoy Blagoev 1 collaboration

Thomas Sicheritz-Ponten 1 collaboration

Rasmus Nielsen 1 collaboration

M Thomas P Gilbert 1 collaboration

Margaux Serey-Gaut 1 collaboration

Bruno Reversade 1 collaboration

Lyse Ruaud 1 collaboration

Christelle Cabrol 1 collaboration

Nathalie Escande-Beillard 1 collaboration

Jean Langlais 1 collaboration

Gianluca Piatelli 1 collaboration

Alessandro Consales 1 collaboration

Lionel Van Maldergem 1 collaboration

Maria Elena Onore 1 collaboration

Paola D'Ambrosio 1 collaboration

Mariateresa Zanobio 1 collaboration

Francesca Del Vecchio Blanco 1 collaboration

Patrizia Tornabene 1 collaboration

Rita Ferla 1 collaboration

Manel Llado-Santaeularia 1 collaboration

Miriam Centrulo 1 collaboration

Margherita Dell'Anno 1 collaboration

Federica Esposito 1 collaboration

Elena Marrocco 1 collaboration

Emanuela Pone 1 collaboration

Renato Minopoli 1 collaboration

Carolina Iodice 1 collaboration

Edoardo Nusco 1 collaboration

Settimio Rossi 1 collaboration

Hristiana Lyubenova 1 collaboration

Anna Manfredi 1 collaboration

Lucio Di Filippo 1 collaboration

Antonella Iuliano 1 collaboration

Enrico Maria Surace 1 collaboration

Davide Cacchiarelli 1 collaboration

Alberto Auricchio 1 collaboration

Steve Laurie 1 collaboration

Valeria Policastro 1 collaboration

Giorgio Casari 1 collaboration

German Demidov 1 collaboration

Burcu Yaldiz 1 collaboration

José Garcia-Pelaez 1 collaboration

Elke de Boer 1 collaboration

Nika Schuermans 1 collaboration

Liedewei Van de Vondel 1 collaboration

Ida Paramonov 1 collaboration

Lennart F Johansson 1 collaboration

Gemma Bullich 1 collaboration

Karolis Sablauskas 1 collaboration

Christian Gilissen 1 collaboration

Alexander Hoischen 1 collaboration

Stephan Ossowski 1 collaboration

Richarda de Voer 1 collaboration

Katja Lohmann 1 collaboration

Carla Oliveira 1 collaboration

Ana Topf 1 collaboration

Lisenka E L M Vissers 1 collaboration

Steven Laurie 1 collaboration