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Author/Creator Forzano, Francesca

1. A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency. (11th April 2023)

Authors:
Pagnamenta, Alistair T.; Yu, Jing; Willis, Tracey A.; Hashim, Mona; Seaby, Eleanor G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F.; Ghali, Neeti; Atanur, Santosh S.; Ennis, Sarah; Baralle, Diana; Taylor, ...
Other Names:
Amor David J. Academic Editor.
Journal:
Human mutation
Issue:
Volume 2023(2023)
Page Start:
Record Type:
Journal Article
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3. A specific mutation in TBL1XR1 causes Pierpont syndrome. Issue 5 (14th January 2016)

Authors:
Heinen, Charlotte A; Jongejan, Aldo; Watson, Peter J; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H; Pierpont, Mary Ella; Schaefer, G Bradley; Stewart, Fiona; van Trotsenburg, A S Paul; Fliers, Eric; Schwabe, John W R;...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 5(2016)
Page Start:
330
Record Type:
Journal Article
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5. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects. Issue 3 (24th May 2021)

Authors:
Guida, Valentina; Sparascio, Francesca Piceci; Bernardini, Laura; Pancheri, Francesco; Melis, Daniela; Cocciadiferro, Dario; Pagnoni, Mario; Puzzo, Marianna; Goldoni, Marina; Barone, Chiara; Hozhabri, Hossein; Putotto, Carolina; Giuffrida, Maria Grazia; Briuglia, Silvana; Palumbo, Orazio; Bianca,...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 3(2021)
Page Start:
268
Record Type:
Journal Article
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6. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019)

Authors:
Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 6(2019)
Page Start:
693
Record Type:
Journal Article
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8. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci. Issue 11 (7th October 2013)

Authors:
Garavelli, Livia; Piemontese, Maria Rosaria; Cavazza, Alberto; Rosato, Simonetta; Wischmeijer, Anita; Gelmini, Chiara; Albertini, Enrico; Albertini, Giuseppe; Forzano, Francesca; Franchi, Fabrizia; Carella, Massimo; Zelante, Leopoldo; Superti‐Furga, Andrea
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 11(2013:Nov.)
Page Start:
2894
Record Type:
Journal Article
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9. Nablus syndrome: Easy to diagnose yet difficult to solve. Issue 4 (22nd December 2018)

Authors:
Allanson, Judith; Smith, Amanda; Forzano, Francesca; Lin, Angela E.; Raas‐Rothschild, Annick; Howley, Heather E.; Boycott, Kym M.
Other Names:
Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 178:Issue 4(2018)
Page Start:
447
Record Type:
Journal Article
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10. One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans. (January 2018)

Authors:
Howard, Heidi; El, Carla; Forzano, Francesca; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Wert, Guido; Borry, Pascal; Cornel, Martina
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
1
Record Type:
Journal Article
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