Browse by UCL people
Group by: Type | Date
Number of items: 7.
Article
Alves, CAPF;
Sherbini, O;
D'Arco, F;
Steel, D;
Kurian, MA;
Radio, FC;
Ferrero, GB;
... Vanderver, A; + view all
(2022)
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
American Journal of Neuroradiology
, 43
(7)
pp. 1048-1053.
10.3174/ajnr.A7555.
|
 |
|
Goodman, LD;
Cope, H;
Nil, Z;
Ravenscroft, TA;
Charng, WL;
Lu, S;
Tien, AC;
... Tan, QKG; + view all
(2021)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American Journal of Human Genetics
, 108
(9)
pp. 1669-1691.
10.1016/j.ajhg.2021.06.019.
|
|
Ostrozovicova, Miriama;
Jech, Robert;
Steel, Dora;
Pavelekova, Petra;
Han, Vladimir;
Gdovinova, Zuzana;
Lichtner, Peter;
... Skorvanek, Matej; + view all
(2021)
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Movement Disorders
, 36
(8)
, Article 28647. 10.1002/mds.28647.
|
|
Steel, DBD;
Danti, FR;
Abunada, M;
Kamien, B;
Malhotra, S;
Topf, M;
Kaliakatsos, M;
... Kurian, MA; + view all
(2023)
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology
, 100
(21)
e2214-e2223.
10.1212/WNL.0000000000207241.
|
 |
|
Steel, Dora;
Vezyroglou, Aikaterini;
Barwick, Katy;
Smith, Martin;
Vogt, Julie;
Gibbon, Frances M;
Cross, J Helen;
(2022)
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Movement Disorders
10.1002/mds.29250.
(In press).
|
|
Tepe, Burak;
Macke, Erica L;
Niceta, Marcello;
Weisz Hubshman, Monika;
Kanca, Oguz;
Schultz-Rogers, Laura;
Zarate, Yuri A;
... Bellen, Hugo J; + view all
(2023)
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
American Journal of Human Genetics
, 110
(5)
pp. 774-789.
10.1016/j.ajhg.2023.03.012.
|
Thesis
|
Steel, Dora Batia Dyne;
(2023)
Whole-genome sequencing in early-onset movement disorders: diagnosis, discovery, and deepening understanding of rare conditions.
Doctoral thesis (Ph.D), UCL (University College London).
|
