Stephanie Efthymiou

ScholarGPS® ID: 76707479907199

Affiliation

University College London, London, United Kingdom, United Kingdom

Affiliation History

Field

Medicine

Discipline

Neurology

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

864

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum (journal article) Bucknor, Eboni M. V. \| Johnson, Errin \| Efthymiou, Stephanie \| Alvi, Javeria R. \| Sultan, Tipu \| Houlden, Henry \| Maroofian, Reza \| Karimiani, Ehsan G. \| Finelli, Mattéa J. \| Oliver, Peter L. Antioxidants, volume 13, issue 6, pages 685- (2024). 10.3390/antiox13060685 Cite \| Source
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth (journal article) Harms, Frederike L. \| Rexach, Jessica Erin \| Efthymiou, Stephanie \| Aynekin, Busra \| Per, Hüseyin \| Güleç, Ayten \| Nampoothiri, Sheela \| Sampaio, Hugo \| Sachdev, Rani \| Stoeva, Radka \| ... \| Kutsche, Kerstin European Journal of Human Genetics, volume 32, issue 5, pages 558-566 (2024). 10.1038/s41431-024-01563-5 Cited by (1) \| Cite \| Source
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India (journal article) Vishnu, Venugopalan Y. \| Lemmers, Richard J. L. F. \| Reyaz, Alisha \| Mishra, Rinkle \| Ahmad, Tanveer \| van der Vliet, Patrick J. \| Kretkiewicz, Marcelina M. \| Macken, William L. \| Efthymiou, Stephanie \| Dominik, Natalia \| ... \| Srivastava, M. V. Padma European Journal of Human Genetics (2024). 10.1038/s41431-024-01577-z Cited by (1) \| Cite \| Source
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders (journal article) Sultan, Tipu \| Scorrano, Giovanna \| Panciroli, Marta \| Christoforou, Marilena \| Raza Alvi, Javeria \| Di Ludovico, Armando \| Qureshi, Sameen \| Efthymiou, Stephanie \| Salpietro, Vincenzo \| Houlden, Henry Gene, volume 899 (2024). 10.1016/j.gene.2023.148119 Cited by (2) \| Cite \| Source
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron (journal article) Gambadauro, Antonella \| Mangano, Giuseppe Donato \| Galletta, Karol \| Granata, Francesca \| Riva, Antonella \| Massella, Laura \| Guzzo, Isabella \| Farello, Giovanni \| Scorrano, Giovanna \| Di Francesco, Ludovica \| ... \| Chimenz, Roberto Genes, volume 14, issue 12, pages 2143- (2023). 10.3390/genes14122143 Cited by (1) \| Cite \| Source
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation (journal article) Ullah, Ikram \| Waqas, Muhammad \| Ilyas, Muhammad \| Halim, Sobia Ahsan \| Ahmad, Akmal \| Dominik, Natalia \| Ullah, Wahid \| Abbas, Muhammad \| Aamir, Muhammad \| Houlden, Henry \| ... \| Al-Harrasi, Ahmed Genes & Diseases, volume 10, issue 6, pages 2263-2266 (2023). 10.1016/j.gendis.2023.01.018 Cited by (1) \| Cite \| Source
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1 (journal article) Pipis, Menelaos \| Won, Seongsik \| Poh, Roy \| Efthymiou, Stephanie \| Polke, James M \| Skorupinska, Mariola \| Blake, Julian \| Rossor, Alexander M \| Moran, John J \| Munot, Pinki \| ... \| Reilly, Mary M Brain, volume 146, issue 10, pages 4025-4032 (2023). 10.1093/brain/awad203 Cited by (1) \| Cite \| Source
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn (journal article) Efthymiou, Stephanie \| Novis, Luiz E. \| Koutsis, Georgios \| Koniari, Chrysoula \| Maroofian, Reza \| Turchetti, Valentina \| Velonakis, Georgios \| Vasconcellos, Luiz F. \| Raskin, Salmo \| Srinivasan, Varunvenkat M. \| ... \| Houlden, Henry Annals of Clinical and Translational Neurology, volume 10, issue 10, pages 1910-1916 (2023). 10.1002/acn3.51874 Cited by (1) \| Cite \| Source
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder (journal article) Maroofian, Reza \| Efthymiou, Stephanie \| Suri, Mohnish \| Rahman, Fatima \| Zaki, Maha S \| Maqbool, Shazia \| Anwa, Najwa \| Ruiz-Pérez, Victor L \| Yanovsky-Dagan, Shira \| Elpeleg, Orly \| ... \| Houlden, Henry Journal of Medical Genetics, volume 60, issue 8, pages 791-796 (2023). 10.1136/jmg-2022-108566 Cited by (1) \| Cite \| Source
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders (journal article) Saadi, Saadia Maryam \| Cali, Elisa \| Khalid, Lubaba Bintee \| Yousaf, Hammad \| Zafar, Ghazala \| Khan, Haq Nawaz \| Sher, Muhammad \| Vona, Barbara \| Abdullah, Uzma \| Malik, Naveed Altaf \| ... \| Iqbal, Zafar Genes, volume 14, issue 7, pages 1404- (2023). 10.3390/genes14071404 Cite \| Source
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family (journal article) Ullah, Wahid \| Ilyas, Muhammad \| Tariq, Muhammad \| Imdad, Maria \| Ullah, Ikram \| Efthymiou, Stephanie \| Faheem, Muhammad \| Abbas, Muhammad \| Aamir, Muhammad \| Nouman, Muhammad \| Houlden, Henry International Journal of Developmental Neuroscience, volume 83, issue 4, pages 368-373 (2023). 10.1002/jdn.10264 Cite \| Source
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder (journal article) Pauly, Martje G. \| Brüggemann, Norbert \| Efthymiou, Stephanie \| Grözinger, Anne \| Diaw, Sokhna Haissatou \| Chelban, Viorica \| Turchetti, Valentina \| Vona, Barbara \| Tadic, Vera \| Houlden, Henry \| ... \| Lohmann, Katja International Journal of Molecular Sciences, volume 24, issue 3, pages 1874- (2023). 10.3390/ijms24031874 Cited by (7) \| Cite \| Source
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range (journal article) Salayev, Kamran \| Rocca, Clarissa \| Kaiyrzhanov, Rauan \| Guliyeva, Ulviyya \| Guliyeva, Sughra \| Mursalova, Aytan \| Rahman, Fatima \| Anwar, Najwa \| Zafar, Faisal \| Jan, Farida \| ... \| Houlden, Henry European Journal of Medical Genetics, volume 65, issue 11, pages 104620- (2022). 10.1016/j.ejmg.2022.104620 Cited by (1) \| Cite \| Source
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review (journal article) D'Onofrio, Gianluca \| Riva, Antonella \| Di Rosa, Gabriella \| Cali', Elisa \| Efthymiou, Stephanie \| Gitto, Eloisa \| Madia, Francesca \| Accogli, Andrea \| Zara, Federico \| Houlden, Henry \| ... \| Soler, Doriette Brain and Development, volume 44, issue 7, pages 469-473 (2022). 10.1016/j.braindev.2022.03.010 Cited by (2) \| Cite \| Source
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene (journal article) Rinaldi, Berardo \| Ge, Yu-Han \| Freri, Elena \| Tucci, Arianna \| Granata, Tiziana \| Estienne, Margherita \| Sun, Jia-Hui \| Gérard, Bénédicte \| Bayat, Allan \| Efthymiou, Stephanie \| ... \| Milani, Donatella neurogenetics, volume 23, issue 1, pages 27-35 (2022). 10.1007/s10048-021-00666-1 Cited by (4) \| Cite \| Source
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (journal article) Pottie, Lore \| Adamo, Christin S. \| Beyens, Aude \| Lütke, Steffen \| Tapaneeyaphan, Piyanoot \| De Clercq, Adelbert \| Salmon, Phil L. \| De Rycke, Riet \| Gezdirici, Alper \| Gulec, Elif Yilmaz \| ... \| Callewaert, Bert The American Journal of Human Genetics, volume 108, issue 12, pages 2386-2388 (2021). 10.1016/j.ajhg.2021.11.009 Cited by (5) \| Cite \| Source
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (journal article) Averdunk, Luisa \| Sticht, Heinrich \| Surowy, Harald \| Lüdecke, Hermann-Josef \| Koch-Hogrebe, Margarete \| Alsaif, Hessa S. \| Kahrizi, Kimia \| Alzaidan, Hamad \| Alawam, Bashayer S. \| Tohary, Mohamed \| ... \| Wieczorek, Dagmar Journal of Molecular Medicine, volume 99, issue 12, pages 1755-1768 (2021). 10.1007/s00109-021-02124-9 Cited by (2) \| Cite \| Source
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco (journal article) Bibi, Farah \| Ullah, Asmat \| Bourinaris, Thomas \| Efthymiou, Stephanie \| Kriouile, Yamna \| Sultan, Tipu \| Haider, Shahzad \| Salpietro, Vincenzo \| Houlden, Henry \| Kaukab Raja, Ghazala Klinische Pädiatrie, volume 233, issue 05, pages 226-230 (2021). 10.1055/a-1371-1561 Cited by (4) \| Cite \| Source
α‐Synuclein ( SNCA ) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism (journal article) Sokratous, Maria \| Breza, Marianthi \| Senkevich, Konstantin \| Gan‐Or, Ziv \| Kalampokini, Stefania \| Spanaki, Cleanthi \| Provatas, Antonios \| Zaunmuktane, Zane \| Valotassiou, Varvara \| Georgoulias, Panagiotis \| ... \| Xiromerisiou, Georgia Movement Disorders, volume 36, issue 9, pages 2209-2212 (2021). 10.1002/mds.28735 Cited by (1) \| Cite \| Source
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family (journal article) Ullah, Ikram \| Aamir, Muhammad \| Ilyas, Muhammad \| Ahmed, Akmal \| Jelani, Musharraf \| Ullah, Wahid \| Abbas, Muhammad \| Ishfaq, Muhammad \| Ali, Fawad \| Yip, Janice \| ... \| Houlden, Henry Congenital Anomalies, volume 61, issue 5, pages 177-182 (2021). 10.1111/cga.12436 Cited by (4) \| Cite \| Source