Search

Author/Creator Ferilli, Marco

1. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022)

Authors:
Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 16(2022)
Page Start:
2766
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022)

Authors:
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ...
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1609
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. DNA methylation signature classification of rare disorders using publicly available methylation data. Issue 6 (6th February 2023)

Authors:
Hildonen, Mathis; Ferilli, Marco; Hjortshøj, Tina Duelund; Dunø, Morten; Risom, Lotte; Bak, Mads; Ek, Jakob; Møller, Rikke S.; Ciolfi, Andrea; Tartaglia, Marco; Tümer, Zeynep
Journal:
Clinical genetics
Issue:
Volume 103:Issue 6(2023)
Page Start:
688
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗