Francesca Forzano

Affiliations
  • Clinical Genetics Department, SE Thames Regional Genetics Service, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.

Publications (14)

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

American journal of human genetics
Avec: Dmitrijs Rots , Arianne Bouman , Ayumi Yamada , Michael Levy , Alexander J M Dingemans , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nicole de Leeuw , Charlotte W Ockeloen , Rolph Pfundt , Elke de Boer , Joost Kummeling , Bregje van Bon , Hans van Bokhoven , Nael Nadif Kasri , Hanka Venselaar , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Alma Kuechler , Bart Elffers , Rixje van Beeck Calkoen , Susanna Hofman , Audrey Smith , Maria Irene Valenzuela , Siddharth Srivastava , Zoe Frazier , Isabelle Maystadt , Carmelo Piscopo , Giuseppe Merla , Meena Balasubramanian , Gijs W E Santen , Kay Metcalfe , Soo-Mi Park , Laurent Pasquier , Siddharth Banka , Dian Donnai , Daniel Weisberg , Gertrud Strobl-Wildemann , Annemieke Wagemans , Maaike Vreeburg , Diana Baralle , Nicola Foulds , Ingrid Scurr , Nicola Brunetti-Pierri , Johanna M van Hagen , Emilia K Bijlsma , Anna H Hakonen , Carolina Courage , David Genevieve , Lucile Pinson , Francesca Forzano , Charu Deshpande , Maria L Kluskens , Lindsey Welling , Astrid S Plomp , Els K Vanhoutte , Louisa Kalsner , Janna A Hol , Audrey Putoux , Johanna Lazier , Pradeep Vasudevan , Elizabeth Ames , Jessica O'Shea , Damien Lederer , Julie Fleischer , Mary O'Connor , Melissa Pauly , Georgia Vasileiou , André Reis , Catherine Kiraly-Borri , Arjan Bouman , Chris Barnett , Marjan Nezarati , Lauren Borch , Gea Beunders , Kübra Özcan , Stéphanie Miot , Catharina M L Volker-Touw , Koen L I van Gassen , Gerarda Cappuccio , Katrien Janssens , Nofar Mor , Inna Shomer , Dan Dominissini , Matthew L Tedder , Alison M Muir , Bekim Sadikovic , Han G Brunner , Lisenka E L M Vissers , Yoichi Shinkai , Tjitske Kleefstra

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Science translational medicine

Réseau de co-auteurs

None None 4 collaborations
Carla G van El 3 collaborations
Emmanuelle Rial-Sebbag 3 collaborations
Martina C Cornel 3 collaborations
Silvana Briuglia 3 collaborations
Alistair T Pagnamenta 2 collaborations
Nayana Lahiri 2 collaborations
Helen Stewart 2 collaborations
Siddharth Banka 2 collaborations
Diana Baralle 2 collaborations
Jenny C Taylor 2 collaborations
Guido de Wert 2 collaborations
Florence Fellmann 2 collaborations
Heidi C Howard 2 collaborations
Angus J Clarke 2 collaborations
Hülya Kayserili 2 collaborations
Álvaro Mendes 2 collaborations
Peter D Turnpenny 2 collaborations
Valentina Guida 2 collaborations
Maria Teresa Fadda 2 collaborations
Maria Cristina Digilio 2 collaborations
Laura Bernardini 2 collaborations
Francesco Brancati 2 collaborations
Teresa Mattina 2 collaborations
Daniela Melis 2 collaborations
Sebastiano Bianca 2 collaborations
Mario Pagnoni 2 collaborations
Bruno Dallapiccola 2 collaborations
Giorgio Iannetti 2 collaborations
Alessandro De Luca 2 collaborations
Pamela Magini 1 collaboration
Clara Marco-Marin 1 collaboration
Diego Martinelli 1 collaboration
Carlo Dionisi-Vici 1 collaboration
Francesca Faravelli 1 collaboration
Marco Seri 1 collaboration
Vicente Rubio 1 collaboration
Emanuele Panza 1 collaboration
Jing Yu 1 collaboration
Susan Walker 1 collaboration
Alexandra J Noble 1 collaboration
Jenny Lord 1 collaboration
Prasun Dutta 1 collaboration
Mona Hashim 1 collaboration
Carme Camps 1 collaboration
Hannah Green 1 collaboration
Smrithi Devaiah 1 collaboration
Lina Nashef 1 collaboration
Jason Parr 1 collaboration
Carl Fratter 1 collaboration
Rana Ibnouf Hussein 1 collaboration
Sarah J Lindsay 1 collaboration
Fiona Lalloo 1 collaboration
Benito Banos-Pinero 1 collaboration
David Evans 1 collaboration
Lucy Mallin 1 collaboration
Adrian Waite 1 collaboration
Julie Evans 1 collaboration
Andrew Newman 1 collaboration
Zoe Allen 1 collaboration
Gavin Ryan 1 collaboration
Rachel Hart 1 collaboration
John Taylor 1 collaboration
Tina Bedenham 1 collaboration
Emma Clement 1 collaboration
Ed Blair 1 collaboration
Eleanor Hay 1 collaboration
Jenny Higgs 1 collaboration
Natalie Canham 1 collaboration
Anirban Majumdar 1 collaboration
Meriel McEntagart 1 collaboration
Sarah Smithson 1 collaboration
Eduardo Calpena 1 collaboration
Adam Jackson 1 collaboration
Hannah Titheradge 1 collaboration
Ruth McGowan 1 collaboration
Julia Rankin 1 collaboration
Charles Shaw-Smith 1 collaboration
D Gareth Evans 1 collaboration
George J Burghel 1 collaboration
Miriam J Smith 1 collaboration
Emily Anderson 1 collaboration
Rajesh Madhu 1 collaboration
Helen Firth 1 collaboration
Sian Ellard 1 collaboration
Paul Brennan 1 collaboration
Claire Anderson 1 collaboration
Doug Taupin 1 collaboration
Mark T Rogers 1 collaboration
Jackie A Cook 1 collaboration
Miranda Durkie 1 collaboration
James E East 1 collaboration
Darren Fowler 1 collaboration
Louise Wilson 1 collaboration
Rebecca Igbokwe 1 collaboration
Alice Gardham 1 collaboration
Ian Tomlinson 1 collaboration
Holm H Uhlig 1 collaboration
Wybo Dondorp 1 collaboration
Angus Clarke 1 collaboration
Elisabeth M C Dequeker 1 collaboration
Christophe Cordier 1 collaboration
Zandra Deans 1 collaboration
Ros Hastings 1 collaboration
Sabine Hentze 1 collaboration
Heidi Howard 1 collaboration
Milan Macek 1 collaboration
Alvaro Mendes 1 collaboration
Chris Patch 1 collaboration
Vigdis Stefansdottir 1 collaboration
Dmitrijs Rots 1 collaboration
Arianne Bouman 1 collaboration
Ayumi Yamada 1 collaboration
Michael Levy 1 collaboration
Bert B A de Vries 1 collaboration
Nicole de Leeuw 1 collaboration
Charlotte W Ockeloen 1 collaboration
Rolph Pfundt 1 collaboration
Elke de Boer 1 collaboration
Joost Kummeling 1 collaboration
Bregje van Bon 1 collaboration
Hans van Bokhoven 1 collaboration
Nael Nadif Kasri 1 collaboration
Hanka Venselaar 1 collaboration
Marielle Alders 1 collaboration
Jennifer Kerkhof 1 collaboration
Haley McConkey 1 collaboration
Alma Kuechler 1 collaboration
Bart Elffers 1 collaboration
Susanna Hofman 1 collaboration
Audrey Smith 1 collaboration
Maria Irene Valenzuela 1 collaboration
Siddharth Srivastava 1 collaboration
Zoe Frazier 1 collaboration
Isabelle Maystadt 1 collaboration
Carmelo Piscopo 1 collaboration
Giuseppe Merla 1 collaboration
Meena Balasubramanian 1 collaboration
Gijs W E Santen 1 collaboration
Kay Metcalfe 1 collaboration
Soo-Mi Park 1 collaboration
Laurent Pasquier 1 collaboration
Dian Donnai 1 collaboration
Daniel Weisberg 1 collaboration
Annemieke Wagemans 1 collaboration
Maaike Vreeburg 1 collaboration
Nicola Foulds 1 collaboration
Ingrid Scurr 1 collaboration
Nicola Brunetti-Pierri 1 collaboration
Johanna M van Hagen 1 collaboration
Emilia K Bijlsma 1 collaboration
Anna H Hakonen 1 collaboration
Carolina Courage 1 collaboration
David Genevieve 1 collaboration
Lucile Pinson 1 collaboration
Charu Deshpande 1 collaboration
Maria L Kluskens 1 collaboration
Lindsey Welling 1 collaboration
Astrid S Plomp 1 collaboration
Els K Vanhoutte 1 collaboration
Louisa Kalsner 1 collaboration
Janna A Hol 1 collaboration
Audrey Putoux 1 collaboration
Johanna Lazier 1 collaboration
Pradeep Vasudevan 1 collaboration
Elizabeth Ames 1 collaboration
Jessica O'Shea 1 collaboration
Damien Lederer 1 collaboration
Julie Fleischer 1 collaboration
Mary O'Connor 1 collaboration
Melissa Pauly 1 collaboration
Georgia Vasileiou 1 collaboration
André Reis 1 collaboration
Catherine Kiraly-Borri 1 collaboration
Arjan Bouman 1 collaboration
Chris Barnett 1 collaboration
Marjan Nezarati 1 collaboration
Lauren Borch 1 collaboration
Gea Beunders 1 collaboration
Kübra Özcan 1 collaboration
Stéphanie Miot 1 collaboration
Koen L I van Gassen 1 collaboration
Gerarda Cappuccio 1 collaboration
Katrien Janssens 1 collaboration
Nofar Mor 1 collaboration
Inna Shomer 1 collaboration
Dan Dominissini 1 collaboration
Matthew L Tedder 1 collaboration
Alison M Muir 1 collaboration
Bekim Sadikovic 1 collaboration
Han G Brunner 1 collaboration
Lisenka E L M Vissers 1 collaboration
Yoichi Shinkai 1 collaboration
Tjitske Kleefstra 1 collaboration
Daniele Carrieri 1 collaboration
Caroline Benjamin 1 collaboration
Sandi Dheensa 1 collaboration
Shane Doheny 1 collaboration
Naomi Hawkins 1 collaboration
Leigh Jackson 1 collaboration
Susan E Kelly 1 collaboration
Anneke M Lucassen 1 collaboration
Irene M van Langen 1 collaboration
Ilaria Catusi 1 collaboration
Maria Garzo 1 collaboration
Anna Paola Capra 1 collaboration
Chiara Baldo 1 collaboration
Maria Paola Canevini 1 collaboration
Rachele Cantone 1 collaboration
Flaviana Elia 1 collaboration
Ornella Galesi 1 collaboration
Enrico Grosso 1 collaboration
Michela Malacarne 1 collaboration
Angela Peron 1 collaboration
Corrado Romano 1 collaboration
Monica Saccani 1 collaboration
Lidia Larizza 1 collaboration
Maria Paola Recalcati 1 collaboration
Maria Francesca Di Feo 1 collaboration
Ali Oghabian 1 collaboration
Ella Nippala 1 collaboration
Mathias Gautel 1 collaboration
Heinz Jungbluth 1 collaboration
Edoardo Malfatti 1 collaboration
Claudia Castiglioni 1 collaboration
Ilona Krey 1 collaboration
David Gomez Andres 1 collaboration
Angela F Brady 1 collaboration
Maria Iascone 1 collaboration
Anna Cereda 1 collaboration
Lidia Pezzani 1 collaboration
Berta Estévez Arias 1 collaboration
Sergei A Kurbatov 1 collaboration
Tania Attie-Bitach 1 collaboration
Sheela Nampoothiri 1 collaboration
Erin Ryan 1 collaboration
Michelle Morrow 1 collaboration
Svetlana Gorokhova 1 collaboration
Brigitte Chabrol 1 collaboration
Juha Sinisalo 1 collaboration
Heli Tolppanen 1 collaboration
Johanna Tolva 1 collaboration
Francina Munell 1 collaboration
Mridul Johari 1 collaboration
Homa Tajsharghi 1 collaboration
Peter Hackman 1 collaboration
Bjarne Udd 1 collaboration
Marco Savarese 1 collaboration
Luciano Calzari 1 collaboration
Tommaso Mazza 1 collaboration
Enza Maria Valente 1 collaboration
Leila Bagherjad Salehi 1 collaboration
Paolo Prontera 1 collaboration
Romano Tenconi 1 collaboration
Luigi Corsaro 1 collaboration
Davide Gentilini 1 collaboration
Filomena Pirozzi 1 collaboration
Matthew Berkseth 1 collaboration
Rylee Shear 1 collaboration
Lorenzo Gonzalez 1 collaboration
Andrew E Timms 1 collaboration
Josef Sulc 1 collaboration
Emily Pao 1 collaboration
Nora Oyama 1 collaboration
Valerio Conti 1 collaboration
Renzo Guerrini 1 collaboration
Emily S Doherty 1 collaboration
Sulagna C Saitta 1 collaboration
Christina M Lockwood 1 collaboration
Colin C Pritchard 1 collaboration
William B Dobyns 1 collaboration
Edward Novotny 1 collaboration
Jason N N Wright 1 collaboration
Russell P Saneto 1 collaboration
Seth Friedman 1 collaboration
Jason Hauptman 1 collaboration
Jeffrey Ojemann 1 collaboration
Raj P Kapur 1 collaboration
Ghayda M Mirzaa 1 collaboration
Frédéric Ebstein 1 collaboration
Sébastien Küry 1 collaboration
Victoria Most 1 collaboration
Cory Rosenfelt 1 collaboration
Marie-Pier Scott-Boyer 1 collaboration
Geeske M van Woerden 1 collaboration
Thomas Besnard 1 collaboration
Maja Studencka-Turski 1 collaboration
Tianyun Wang 1 collaboration
Tzung-Chien Hsieh 1 collaboration
Richard Golnik 1 collaboration
Dustin Baldridge 1 collaboration
Cara Forster 1 collaboration
Charlotte de Konink 1 collaboration
Selina M W Teurlings 1 collaboration
Virginie Vignard 1 collaboration
Lesley Ades 1 collaboration
Benjamin Cogné 1 collaboration
Cyril Mignot 1 collaboration
Wallid Deb 1 collaboration
Marjolijn C J Jongmans 1 collaboration
F Sessions Cole 1 collaboration
Jennifer A Wambach 1 collaboration
Daniel J Wegner 1 collaboration
Sandra Yang 1 collaboration
Vickie Hannig 1 collaboration
Jennifer Ann Brault 1 collaboration
Neda Zadeh 1 collaboration
Bruce Bennetts 1 collaboration
Boris Keren 1 collaboration
Anne-Claire Gélineau 1 collaboration
Zöe Powis 1 collaboration
Meghan Towne 1 collaboration
Kristine Bachman 1 collaboration
Andrea Seeley 1 collaboration
Anita E Beck 1 collaboration
Jennifer Morrison 1 collaboration
Rachel Westman 1 collaboration
Kelly Averill 1 collaboration
Theresa Brunet 1 collaboration
Judith Haasters 1 collaboration
Melissa T Carter 1 collaboration
Matthew Osmond 1 collaboration
Patricia G Wheeler 1 collaboration
Shehla Mohammed 1 collaboration
Yannis Trakadis 1 collaboration
Andrea Accogli 1 collaboration
Rachel Harrison 1 collaboration
Yiran Guo 1 collaboration
Hakon Hakonarson 1 collaboration
Sophie Rondeau 1 collaboration
Geneviève Baujat 1 collaboration
Giulia Barcia 1 collaboration
Johannes Adalbert Mayr 1 collaboration
Martin Preisel 1 collaboration
Frédéric Laumonnier 1 collaboration
Tilmann Kallinich 1 collaboration
Alexej Knaus 1 collaboration
Bertrand Isidor 1 collaboration
Peter Krawitz 1 collaboration
Uwe Völker 1 collaboration
Elke Hammer 1 collaboration
Arnaud Droit 1 collaboration
Evan E Eichler 1 collaboration
Ype Elgersma 1 collaboration
Peter W Hildebrand 1 collaboration
François Bolduc 1 collaboration
Elke Krüger 1 collaboration
Stéphane Bézieau 1 collaboration
Antonio Capalbo 1 collaboration
Lidewij Henneman 1 collaboration
Georgia Kakourou 1 collaboration
Saria Mcheik 1 collaboration
Borut Peterlin 1 collaboration
Carla van El 1 collaboration
Rita Vassena 1 collaboration
Nathalie Vermeulen 1 collaboration
Stéphane Viville 1 collaboration
Philippe Charron 1 collaboration
Katarzyna Michaud 1 collaboration
Sarah N Boers 1 collaboration
Anne-Marie Duguet 1 collaboration
Silke Kauferstein 1 collaboration
Anneke Lucassen 1 collaboration
Christine Patch 1 collaboration
Dragica Radojkovic 1 collaboration
Mary N Sheppard 1 collaboration
Anne-Marie Tassé 1 collaboration
Sehime G Temel 1 collaboration
Antti Sajantila 1 collaboration
Cristina Basso 1 collaboration
Arthur A M Wilde 1 collaboration
Pamela J Kaisaki 1 collaboration
Fenella Bennett 1 collaboration
Emma Burkitt-Wright 1 collaboration
Hilary C Martin 1 collaboration
Matteo P Ferla 1 collaboration
John M Taylor 1 collaboration
Lianne Gompertz 1 collaboration
Katrina Tatton-Brown 1 collaboration
Ruth Newbury-Ecob 1 collaboration
Alex Henderson 1 collaboration
Shelagh Joss 1 collaboration
Astrid Weber 1 collaboration
Jenny Carmichael 1 collaboration
Shane McKee 1 collaboration
Tazeen Ashraf 1 collaboration
Kimberley Bradbury 1 collaboration
Deborah Shears 1 collaboration
Usha Kini 1 collaboration
Anna de Burca 1 collaboration
Edward Blair 1 collaboration
Francesco Pancheri 1 collaboration
Dario Cocciadiferro 1 collaboration
Marianna Puzzo 1 collaboration
Marina Goldoni 1 collaboration
Chiara Barone 1 collaboration
Hossein Hozhabri 1 collaboration
Carolina Putotto 1 collaboration
Maria Grazia Giuffrida 1 collaboration
Orazio Palumbo 1 collaboration
Franco Stanzial 1 collaboration
Francesco Benedicenti 1 collaboration
Ariana Kariminejad 1 collaboration
Marco Castori 1 collaboration
Massimo Carella 1 collaboration
Bruno Marino 1 collaboration
Marco Tartaglia 1 collaboration