Published September 8, 2021
| Version v1
Dataset
Open
dataset relared to article "Childhood‑onset dystonia‑causing KMT2B variants result in a distinctive genomic hypermethylation profile"
Authors/Creators
-
Ciolfi, Andrea1
-
Foroutan, Aidin2
-
Capuano, Alessandro3
-
Pedace, Lucia4
-
Travaglini, Lorena1
-
Pizzi, Simone1
-
Andreani, Marco4
-
Miele, Evelina4
-
Invernizzi, Federica5
-
Reale, Chiara5
-
Panteghini, Celeste5
-
Iascone, Maria6
-
Niceta, Marcello1
-
Gavrilova, Ralitza H7
-
Schultz-Rogers, Laura7
-
Agolini, Emanuele8
-
Bedeschi, Maria Francesca9
-
Prontera, Paolo10
-
Garibaldi, Matteo11
-
Galosi, Serena12
-
Leuzzi, Vincenzo12
-
Soliveri, Paola5
-
Olson, Rory J7
-
Zorzi, Giovanna S5
-
Garavaglia, Barbara M5
-
Tartaglia, Marco1
-
Sadikovic, Bekim2
- 1. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- 2. Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada
- 3. Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
- 4. Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù
- 5. Fondazione IRCCS Istituto Neurologico Carlo Besta
- 6. Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy
- 7. Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA
- 8. Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- 9. Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
- 10. Maternal-Infantile Department, University Hospital of Perugia, Perugia, Italy
- 11. Department of Neuroscience, NESMOS, Sapienza University, Sant'Andrea Hospital, Rome, Italy
- 12. Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy
Description
Sanger sequences (.abi files) of all patients of Fondazione Besta cohort.
Files
KMT2B_positive_sequences_20210907.zip
Files
(1.2 MB)
| Name | Size | Download all |
|---|---|---|
|
md5:52cece9e571da6c2d35bef330715df7a
|
1.2 MB | Preview Download |
Additional details
Related works
- Is supplement to
- Journal article: 10.1186/s13148-021-01145-y (DOI)