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Number of items: 17.
Article
Aharoni, S;
Barwick, KES;
Straussberg, R;
Harlalka, GV;
Nevo, Y;
Chioza, BA;
McEntagart, MM;
... Crosby, AH; + view all
(2016)
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
BMC Medical Genetics
, 17
, Article 82. 10.1186/s12881-016-0343-x.
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Baple, EL;
Maroofian, R;
Chioza, BA;
Izadi, M;
Cross, HE;
Al-Turki, S;
Barwick, K;
... Crosby, AH; + view all
(2014)
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures.
The American Journal of Human Genetics
, 94
(1)
pp. 87-94.
10.1016/j.ajhg.2013.10.001.
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Barwick, KES;
Wright, J;
Al-Turki, S;
McEntagart, MM;
Nair, A;
Chioza, B;
Al-Memar, A;
... Crosby, AH; + view all
(2012)
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy.
AMERICAN JOURNAL OF HUMAN GENETICS
, 91
(6)
1103 - 1107.
10.1016/j.ajhg.2012.09.019.
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Cif, L;
Demailly, D;
Lin, J-P;
Barwick, KE;
Sa, M;
Abela, L;
Malhotra, S;
... Kurian, MA; + view all
(2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
, 143
(11)
pp. 3242-3261.
10.1093/brain/awaa304.
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Ferrini, A;
Steel, D;
Barwick, K;
Kurian, MA;
(2021)
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Movement Disorders
10.1002/mds.28495.
(In press).
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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.
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Ingram, G;
Barwick, KE;
Hartley, L;
McEntagart, M;
Crosby, AH;
Llewelyn, G;
Morris, HR;
(2016)
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Practical Neurology
, 16
(3)
pp. 247-251.
10.1136/practneurol-2015-001307.
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Jones, HF;
Morales-Briceño, H;
Barwick, K;
Lewis, J;
Sanchis-Juan, A;
Raymond, FL;
Stewart, K;
... Mohammad, SS; + view all
(2019)
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
[Letter].
Movement Disorders
10.1002/mds.27708.
(In press).
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Klöckner, C;
Sticht, H;
Zacher, P;
Popp, B;
Bakker, DP;
Barwick, K;
Bonfert, MV;
... Platzer, K; + view all
(2021)
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genetics in Medicine
, 23
pp. 653-660.
10.1038/s41436-020-01020-w.
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Lee, Sunwoo;
Ochoa, Eguzkine;
Barwick, Katy;
Cif, Laura;
Rodger, Fay;
Docquier, France;
Pérez-Dueñas, Belén;
... Maher, Eamonn R; + view all
(2022)
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
Epigenomics
, 14
(9)
pp. 537-547.
10.2217/epi-2021-0521.
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Perez-Duenas, Belen;
Gorman, Kathleen;
Marce-Grau, Anna;
Ortigoza-Escobar, Juan D;
Macaya, Alfons;
Danti, Federica R;
Barwick, Katy;
... Kurian, Manju A; + view all
(2022)
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Movement Disorders
, 37
(11)
pp. 2197-2209.
10.1002/mds.29182.
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Reid, KM;
Spaull, R;
Salian, S;
Barwick, K;
Meyer, E;
Zhen, J;
Hirata, H;
... Kurian, MA; + view all
(2022)
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Movement Disorders
10.1002/mds.29147.
(In press).
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Salter, CG;
Beijer, D;
Hardy, H;
Barwick, KES;
Bower, M;
Mademan, I;
De Jonghe, P;
... Crosby, AH; + view all
(2018)
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Neurology Genetics
, 4
(2)
, Article e222. 10.1212/NXG.0000000000000222.
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Sanchis-Juan, A;
Hasenahuer, MA;
Baker, JA;
McTague, A;
Barwick, K;
Kurian, MA;
Duarte, ST;
... Raymond, FL; + view all
(2020)
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine
, Article e1106. 10.1002/mgg3.1106.
(In press).
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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.
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Steel, D;
Zech, M;
Zhao, C;
Barwick, KE;
Burke, D;
Demailly, D;
Kumar, KR;
... Winkelmann, J; + view all
(2020)
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
, 88
(5)
pp. 867-877.
10.1002/ana.25879.
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Sullivan, JM;
Motley, WW;
Johnson, JO;
Aisenberg, WH;
Marshall, KL;
Barwick, KES;
Kong, L;
... Sumner, CJ; + view all
(2020)
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Journal of Clinical Investigation
, 130
(3)
pp. 1506-1512.
10.1172/JCI128152.
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