Browse by UCL people
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Number of items: 125.
Article
Accogli, Andrea;
Zaki, Maha S;
Al-Owain, Mohammed;
Otaif, Mansour Y;
Jackson, Adam;
Argilli, Emanuela;
Chandler, Kate E;
... Maroofian, Reza; + view all
(2023)
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Communications
, 5
(5)
, Article fcad222. 10.1093/braincomms/fcad222.
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Almannai, Mohammed;
Marafi, Dana;
Zaki, Maha S;
Maroofian, Reza;
Efthymiou, Stephanie;
Saadi, Nebal Waill;
Filimban, Bilal;
... El-Hattab, Ayman W; + view all
(2024)
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clinical Genetics
, 105
(6)
pp. 620-629.
10.1111/cge.14492.
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Almousa, Hashem;
Lewis, Sara A;
Bakhtiari, Somayeh;
Nordlie, Sandra Hinz;
Pagnozzi, Alex;
Magee, Helen;
Efthymiou, Stephanie;
... Kruer, Michael C; + view all
(2024)
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
, 147
(1)
10.1093/brain/awad301.
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Amore, Greta;
Calì, Elisa;
Spanò, Maria;
Ceravolo, Giorgia;
Mangano, Giuseppe Donato;
Scorrano, Giovanna;
Efthymiou, Stephanie;
... Di Rosa, Gabriella; + view all
(2023)
ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview.
Brain and Development
, 45
(10)
pp. 588-596.
10.1016/j.braindev.2023.07.004.
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Armirola-Ricaurte, C;
Zonnekein, N;
Koutsis, G;
Amor-Barris, S;
Pelayo-Negro, AL;
Atkinson, D;
Efthymiou, S;
... Jordanova, A; + view all
(2024)
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genetics in Medicine
, 26
(6)
, Article 101117. 10.1016/j.gim.2024.101117.
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Armirola-Ricaurte, Camila;
Morant, Laura;
Adant, Isabelle;
Hamed, Sherifa Ahmed;
Pipis, Menelaos;
Efthymiou, Stephanie;
Amor-Barris, Silvia;
... Jordanova, Albena; + view all
(2025)
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Brain
, Article awaf300. 10.1093/brain/awaf300.
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Asadollahi, Reza;
Ahmad, Aisha;
Boonsawat, Paranchai;
Shahanoor Hinzen, Jasmine;
Lohse, Mareike;
Bouazza-Arostegui, Boris;
Sun, Siqi;
... Lipstein, Noa; + view all
(2025)
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Nature Genetics
10.1038/s41588-025-02361-5.
(In press).
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Aughey, Gabriel N;
Cali, Elisa;
Maroofian, Reza;
Zaki, Maha S;
Pagnamenta, Alistair T;
Ali, Zafar;
Abdulllah, Uzma;
... Houlden, Henry; + view all
(2025)
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain
, 148
(4)
pp. 1194-1211.
10.1093/brain/awae363.
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Averdunk, L;
Sticht, H;
Surowy, H;
Lüdecke, HJ;
Koch-Hogrebe, M;
Alsaif, HS;
Kahrizi, K;
... Wieczorek, D; + view all
(2021)
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Journal of Molecular Medicine
10.1007/s00109-021-02124-9.
(In press).
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Aynekin, B;
Samur, BM;
Ozgul Gumus, UG;
Bilguvar, K;
Gulec, A;
Efthymiou, S;
Gumus, H;
... Per, H; + view all
(2024)
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.
Molecular Syndromology
pp. 1-14.
10.1159/000543107.
(In press).
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Aynekin, Busra;
Akbaş, Sinan;
Gulec, Ayten;
Gumus, Ummu Gulsum Ozgul;
Guner, Abdullah Emre;
Efthymiou, Stephanie;
Houlden, Henry;
... Per, Huseyin; + view all
(2025)
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
, 26
, Article 23. 10.1007/s10048-025-00799-7.
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Azad, B;
Efthymiou, S;
Sultan, T;
Scala, M;
Alvi, JR;
Neuray, C;
Dominik, N;
... Houlden, H; + view all
(2020)
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.
Journal of the Neurological Sciences
, 414
, Article 116826. 10.1016/j.jns.2020.116826.
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Bell, S;
Rousseau, J;
Peng, H;
Aouabed, Z;
Priam, P;
Theroux, J-F;
Jefri, M;
... Campeau, PM; + view all
(2019)
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
The American Journal of Human Genetics
, 104
(5)
pp. 815-834.
10.1016/j.ajhg.2019.03.022.
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Bettencourt, C;
Salpietro, V;
Efthymiou, S;
Chelban, V;
Hughes, D;
Pittman, AM;
Federoff, M;
... Xiromerisiou, G; + view all
(2017)
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Orphanet Journal of Rare Diseases
, 12
, Article 172. 10.1186/s13023-017-0721-2.
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Bibi, F;
Ullah, A;
Bourinaris, T;
Efthymiou, S;
Kriouile, Y;
Sultan, T;
Haider, S;
... Kaukab Raja, G; + view all
(2021)
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klinische Pädiatrie
, 233
(5)
pp. 226-230.
10.1055/a-1371-1561.
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Bibi, F;
Efthymiou, S;
Bourinaris, T;
Tariq, A;
Zafar, F;
Rana, N;
Salpietro, V;
... Minhas, NM; + view all
(2020)
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
Journal of the Neurological Sciences
, 411
, Article 116669. 10.1016/j.jns.2020.116669.
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Bourinaris, T;
Athanasiou, A;
Efthymiou, S;
Wiethoff, S;
Salpietro, V;
Houlden, H;
(2021)
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.
European Journal of Human Genetics
10.1038/s41431-021-00866-1.
(In press).
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Breza, M;
Hirst, J;
Chelban, V;
Banneau, G;
Tissier, L;
Kol, B;
Bourinaris, T;
... Stevanin, G; + view all
(2021)
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.
Movement Disorders
, 36
(4)
pp. 1034-1038.
10.1002/mds.28487.
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Calame, DG;
Wong, JH;
Panda, P;
Nguyen, DT;
Leong, NCP;
Sangermano, R;
Patankar, SG;
... Nguyen, LN; + view all
(2025)
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Genetics in Medicine
, 27
(1)
, Article 101273. 10.1016/j.gim.2024.101273.
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Calì, E;
Lin, SJ;
Rocca, C;
Sahin, Y;
Al Shamsi, A;
El Chehadeh, S;
Chaabouni, M;
... Saadi, NW; + view all
(2022)
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genetics in Medicine
10.1016/j.gim.2022.07.013.
(In press).
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Casto, C;
Dipasquale, V;
Ceravolo, I;
Gambadauro, A;
Aliberto, E;
Galletta, K;
Granata, F;
... Chimenz, R; + view all
(2021)
Prominent and regressive brain developmental disorders associated with nance-horan syndrome.
Brain Sciences
, 11
(9)
, Article 1150. 10.3390/brainsci11091150.
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Chelban, Viorica;
Aksnes, Henriette;
Maroofian, Reza;
LaMonica, Lauren C;
Seabra, Luis;
Siggervåg, Anette;
Devic, Perrine;
... Houlden, Henry; + view all
(2024)
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nature Communications
, 15
, Article 2269. 10.1038/s41467-024-46354-0.
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Chelban, V;
Alsagob, M;
Kloth, K;
Chirita-Emandi, A;
Vandrovcova, J;
Maroofian, R;
Davagnanam, I;
... Kaya, N; + view all
(2019)
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
European Journal of Neurology
10.1111/ene.14082.
(In press).
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Chelban, V;
Carecchio, M;
Rea, G;
Bowirrat, A;
Kirmani, S;
Magistrelli, L;
Efthymiou, S;
... Houlden, H; + view all
(2020)
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Neurology Genetics
, 6
(2)
, Article e399. 10.1212/NXG.0000000000000399.
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Chelban, V;
Manole, A;
Pihlstrøm, L;
Schottlaender, L;
Efthymiou, S;
OConnor, E;
Meissner, WG;
... Houlden, H; + view all
(2017)
Analysis of the prion protein gene in multiple system atrophy.
Neurobiology of Aging
, 49
216.e15-216.e18.
10.1016/j.neurobiolaging.2016.09.021.
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Chelban, V;
Patel, N;
Vandrovcova, J;
Zanetti, MN;
Lynch, DS;
Ryten, M;
Botia, JA;
... Houlden, H; + view all
(2017)
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
American Journal of Human Genetics
, 100
(6)
pp. 969-977.
10.1016/j.ajhg.2017.05.009.
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Chelban, V;
Wiethoff, S;
Fabian-Jessing, BK;
Haridy, NA;
Khan, A;
Efthymiou, S;
Becker, EBE;
... Houlden, H; + view all
(2018)
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Movement Disorders
, 33
(7)
pp. 1119-1129.
10.1002/mds.27334.
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Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
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Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
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Chen, Z;
Yan Yau, W;
Jaunmuktane, Z;
Tucci, A;
Sivakumar, P;
Gagliano Taliun, SA;
Turner, C;
... Houlden, H; + view all
(2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1716-1725.
10.1002/acn3.51151.
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Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
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Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
... Reilly, MM; + view all
(2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
, 143
(2)
pp. 480-490.
10.1093/brain/awz418.
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Currò, R;
Salvalaggio, A;
Tozza, S;
Gemelli, C;
Dominik, N;
Galassi Deforie, V;
Magrinelli, F;
... Cortese, A; + view all
(2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
10.1093/brain/awab072.
(In press).
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D'Onofrio, G;
Riva, A;
Di Rosa, G;
Cali', E;
Efthymiou, S;
Gitto, E;
Madia, F;
... Soler, D; + view all
(2022)
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
Brain and Development
, 44
(7)
pp. 469-473.
10.1016/j.braindev.2022.03.010.
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D’Onofrio, G;
Accogli, A;
Severino, M;
Caliskan, H;
Kokotović, T;
Blazekovic, A;
Jercic, KG;
... Nagy, V; + view all
(2023)
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Human Genetics
10.1007/s00439-023-02552-2.
(In press).
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De Nittis, P;
Efthymiou, S;
Sarre, A;
Guex, N;
Chrast, J;
Putoux, A;
Sultan, T;
... Reymond, A; + view all
(2020)
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
Journal of Medical Genetics
10.1136/jmedgenet-2020-107015.
(In press).
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Dias, CM;
Punetha, J;
Zheng, C;
Mazaheri, N;
Rad, A;
Efthymiou, S;
Petersen, A;
... Maroofian, R; + view all
(2019)
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
American Journal of Human Genetics
, 105
(5)
pp. 1048-1056.
10.1016/j.ajhg.2019.09.025.
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Donkervoort, S;
Kutzner, CE;
Hu, Y;
Lornage, X;
Rendu, J;
Stojkovic, T;
Baets, J;
... Bönnemann, CG; + view all
(2020)
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
American Journal of Human Genetics
, 107
(6)
pp. 1078-1095.
10.1016/j.ajhg.2020.11.002.
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Duan, R;
Marafi, D;
Xia, ZJ;
Ng, BG;
Maroofian, R;
Sumya, FT;
Saad, AK;
... Lupski, JR; + view all
(2023)
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Journal of Inherited Metabolic Disease
, 46
(6)
pp. 1195-1205.
10.1002/jimd.12679.
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Dworschak, GC;
Punetha, J;
Kalanithy, JC;
Mingardo, E;
Erdem, HB;
Akdemir, ZC;
Karaca, E;
... Reutter, H; + view all
(2021)
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genetics in Medicine
10.1038/s41436-021-01196-9.
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Efthymiou, Stephanie;
Dutra-Clarke, Marina;
Maroofian, Reza;
Kaiyrzhanov, Rauan;
Scala, Marcello;
Reza Alvi, Javeria;
Sultan, Tipu;
... Houlden, Henry; + view all
(2021)
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Epilepsia
, 62
(2)
e35-e41.
10.1111/epi.16801.
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Efthymiou, Stephanie;
Lemmers, Richard JLF;
Vishnu, Venugopalan Y;
Dominik, Natalia;
Perrone, Benedetta;
Facchini, Stefano;
Vegezzi, Elisa;
... Bugiardini, Enrico; + view all
(2023)
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Biomolecules
, 13
(11)
, Article 1567. 10.3390/biom13111567.
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Efthymiou, Stephanie;
Novis, Luiz E;
Koutsis, Georgios;
Koniari, Chrysoula;
Maroofian, Reza;
Turchetti, Valentina;
Velonakis, Georgios;
... Houlden, Henry; + view all
(2023)
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Annals of Clinical and Translational Neurology
10.1002/acn3.51874.
(In press).
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Efthymiou, Stephanie;
Scala, Marcello;
Nagaraj, Vini;
Ochenkowska, Katarzyna;
Komdeur, Fenne L;
Liang, Robin A;
Abdel-Hamid, Mohamed S;
... McClenaghan, Conor; + view all
(2024)
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
, 147
(5)
pp. 1822-1836.
10.1093/brain/awae010.
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Efthymiou, S;
Breza, M;
Bourinaris, T;
Maroofian, R;
Athanasiou-Fragkouli, A;
Tzartos, J;
Velonakis, G;
... Houlden, H; + view all
(2020)
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Brain: A Journal of Neurology
, 143
(6)
, Article e49. 10.1093/brain/awaa120.
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Efthymiou, S;
Herman, I;
Rahman, F;
Anwar, N;
Maroofian, R;
Yip, J;
Mitani, T;
... Houlden, H; + view all
(2021)
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
American Journal of Medical Genetics Part A
, 185
(7)
pp. 2241-2249.
10.1002/ajmg.a.62221.
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Efthymiou, S;
Kriouile, Y;
Salpietro, V;
Hajar, R;
Ghizlane, Z;
Mankad, K;
El Khorassani, M;
... Wiethoff, S; + view all
(2020)
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.
Journal of the Neurological Sciences
, 410
, Article 116639. 10.1016/j.jns.2019.116639.
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Efthymiou, S;
Manole, A;
Houlden, H;
(2016)
Next-generation sequencing in neuromuscular diseases.
Current Opinion in Neurology
, 29
(5)
pp. 527-536.
10.1097/WCO.0000000000000374.
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Efthymiou, S;
Salpietro, V;
Malintan, N;
Poncelet, M;
Kriouile, Y;
Fortuna, S;
De Zorzi, R;
... Houlden, H; + view all
(2019)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
, 142
(10)
pp. 2948-2964.
10.1093/brain/awz248.
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Efthymiou, S;
Salpietro, V;
Pironti, E;
Bonsignore, M;
Ferrazzoli, V;
Di Rosa, G;
Houlden, H;
(2019)
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Journal of Genetics
, 98
(5)
, Article 108. 10.1007/s12041-019-1155-5.
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Gambadauro, Antonella;
Mangano, Giuseppe Donato;
Galletta, Karol;
Granata, Francesca;
Riva, Antonella;
Massella, Laura;
Guzzo, Isabella;
... Chimenz, Roberto; + view all
(2023)
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Genes
, 14
(12)
, Article 2143. 10.3390/genes14122143.
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Gayathri, S;
Aravind, MK;
Gowda, VK;
Varalakshmi, P;
Chatterjee, C;
Matheshwaran, S;
Efthymiou, S;
... Ashokkumar, B; + view all
(2025)
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.
Brain and Development
, 47
(3)
, Article 104355. 10.1016/j.braindev.2025.104355.
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Gayathri, S;
Gowda, VK;
Udhayabanu, T;
O'Callaghan, B;
Efthymiou, S;
Varalakshmi, P;
Benakappa, N;
... Ashokkumar, B; + view all
(2021)
Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
European Journal of Neurology
, 28
(3)
pp. 945-954.
10.1111/ene.14682.
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Ghosh, SG;
Becker, K;
Huang, H;
Dixon-Salazar, T;
Chai, G;
Salpietro, V;
Al-Gazali, L;
... Gleeson, JG; + view all
(2018)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
American Journal of Human Genetics
, 103
(5)
pp. 431-439.
10.1016/j.ajhg.2018.07.010.
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Gracia-Diaz, Carolina;
Zhou, Yijing;
Yang, Qian;
Maroofian, Reza;
Espana-Bonilla, Paula;
Lee, Chul-Hwan;
Zhang, Shuo;
... Akizu, Naiara; + view all
(2023)
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
, 14
, Article 4109. 10.1038/s41467-023-39645-5.
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Harms, FL;
Rexach, JE;
Efthymiou, S;
Aynekin, B;
Per, H;
Güleç, A;
Nampoothiri, S;
... Kutsche, K; + view all
(2024)
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
European Journal of Human Genetics
10.1038/s41431-024-01563-5.
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Husain, Ralf A;
Jiao, Xinfu;
Hennings, J Christopher;
Giesecke, Jan;
Palsule, Geeta;
Beck-Wödl, Stefanie;
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... SYNAPS Study Group; + view all
(2023)
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
International Journal of Developmental Neuroscience
, 83
(4)
pp. 368-373.
10.1002/jdn.10264.
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Vandervore, LV;
Schot, R;
Milanese, C;
Smits, DJ;
Kasteleijn, E;
Fry, AE;
Pilz, DT;
... Mancini, GMS; + view all
(2019)
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
American Journal of Human Genetics
, 105
(6)
pp. 1126-1147.
10.1016/j.ajhg.2019.10.009.
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Vishnu, Venugopalan Y;
Lemmers, Richard JLF;
Reyaz, Alisha;
Mishra, Rinkle;
Ahmad, Tanveer;
van der Vliet, Patrick J;
Kretkiewicz, Marcelina M;
... Srivastava, MV Padma; + view all
(2024)
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
european journal of human genetics
10.1038/s41431-024-01577-z.
(In press).
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Wang, H;
Kaçar Bayram, A;
Sprute, R;
Ozdemir, O;
Cooper, E;
Pergande, M;
Efthymiou, S;
... Cirak, S; + view all
(2019)
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Frontiers in Neuroscience
, 13
, Article 974. 10.3389/fnins.2019.00974.
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Weerts, MJA;
Lanko, K;
Guzman-Vega, FJ;
Jackson, A;
Ramakrishnan, R;
Cardona-Londono, KJ;
Pena-Guerra, KA;
... Barakat, TS; + view all
(2021)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genetics in Medicine
10.1038/s41436-021-01246-2.
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Wiessner, M;
Maroofian, R;
Ni, M-Y;
Pedroni, A;
Müller, JS;
Stucka, R;
Beetz, C;
... Senderek, J; + view all
(2021)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
, 144
(5)
pp. 1422-1434.
10.1093/brain/awab041.
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Wilson, Lindsay A;
Macken, William L;
Perry, Luke D;
Record, Christopher J;
Schon, Katherine R;
Frezatti, Rodrigo SS;
Raga, Sharika;
... Hanna, Michael G; + view all
(2023)
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
, Article awad254. 10.1093/brain/awad254.
(In press).
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Wong, HH;
Seet, SH;
Maier, M;
Gurel, A;
Traspas, RM;
Lee, C;
Zhang, S;
... Reversade, B; + view all
(2021)
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
American Journal of Human Genetics
, 108
(7)
pp. 1301-1317.
10.1016/j.ajhg.2021.05.003.
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Yap, ZY;
Efthymiou, S;
Seiffert, S;
Parra, KV;
Lee, S;
Nasca, A;
Maroofian, R;
... Yoon, WH; + view all
(2021)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
American Journal of Human Genetics
, 108
(12)
pp. 2368-2384.
10.1016/j.ajhg.2021.11.003.
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Zaki, MS;
Accogli, A;
Mirzaa, G;
Rahman, F;
Mohammed, H;
Porras-Hurtado, GL;
Efthymiou, S;
... Maroofian, R; + view all
(2021)
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
European Journal of Human Genetics
10.1038/s41431-021-00910-0.
(In press).
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Zollo, M;
Ahmed, M;
Ferrucci, V;
Salpietro, V;
Asadzadeh, F;
Carotenuto, M;
Maroofian, R;
... Baple, EL; + view all
(2017)
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
BRAIN
, 140
(4)
pp. 940-952.
10.1093/brain/awx014.
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Thesis
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Efthymiou, Stephanie;
(2021)
Dissecting the genetic basis of neurodevelopmental disorders and demyelinating neuropathies.
Doctoral thesis (Ph.D), UCL (University College London).
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