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Stéphanie Efthymiou

department of neuromuscular disorders

34H-index
235Paper Count
4.5KCitation Count
Published Papers 128
Publication Date
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“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”
errNeurological Sciences
IF2.4
err2026-07-20
err0
PREAI
errMücahid Besnek; Büşra Aynekin; Ayten Güleç; Stephanie Efthymiou; Hüseyin Per
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Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia
errGenes
IF2.8
err2026-06-05
err0
errOAAI
errSeval Kılıç; Kerem Esmen; Jean-Loup Méreaux; Ayşe Miray Oto; Tansu Bilge Kose; Melike Sever-Bahcekapili; Emine Eren-Koçak; Şeyda Demir; A. Semra Hız; Erum Afzal; Zahra Firoozfar; Gökhan Karakülah; H. Alper Bagriyanik; Léna Guillot-Noel; Giulia Coarelli; Henry Houlden; Stephanie Efthymiou; Alexandra Durr; Mehmet Öztürk; M. Kasim Diril
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Phenotypic characterization of dominantly inherited distal nebulin myopathy
errNeuromuscular Disorders
IF2.8
err2026-05-01
err0
errOAAI
errHenning, Franclo; Naidu, Kireshnee; Thomas, Pearl; Schoeman, Mardelle; Zaharie, Dan; Patel, Krutik; Dominik, Natalia; Efthymiou, Stephanie; Wilson, Lindsay A.; Hanna, Michael G.; Straub, Volker; Sagath, Lydia; Lehtokari, Vilma-Lotta
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errSave
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
errNature Communications
IF15.7
err2026-04-15
err0
errOAAI
errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease
errBrain Communications
IF4.5
err2026-03-18
err0
errOAAI
errAlessandra Torraco; Charlotte L Alston; Giulia Barcia; Daniela Verrigni; Teresa Rizza; Michela Di Nottia; Anastasia Altobelli; Diego Martinelli; Daria Diodato; Stephanie Efthymiou; Melis Kose; Yamna Kriouile; Albert Z Lim; Silvia Morlino; Barbara Siri; Nebal Waill Saadi; Antonio Novelli; Henry Houlden; Carlo Dionisi-Vici; Robert McFarland; Agnès Rötig; Enrico Bertini; Robert W Taylor; Rosalba Carrozzo
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L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment
errNEUROGENETICS
IF1.2
err2025-12-02
err0
PREAI
errKaratas, Beyza; Gulec, Ayten; Yigitsezer, Omer; Gumus, Hakan; Aynekin, Busra; Efthymiou, Stephanie; Kardas, Fatih; Per, Huseyin
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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
errBRAIN
IF11.7
err2025-12-01
err0
errOAAI
errArmirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa A.; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael G.; Houlden, Henry; Lunn, Michael P.; Reilly, Mary M.; Rasic, Vedrana Milic; Jordanova, Albena
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements
errGenetics in Medicine
IF6.2
err2025-09-23
err0
PREAI
errHannah M. German; Maha S. Zaki; Muhammad A. Usmani; Irem Karagoz; Stephanie Efthymiou; Mohamed S. Abdel-Hamid; Haya Abdelhafez Arabiyat; Amama Ghaffar; Mohsin Shahzad; Hans van Bokhoven; Zubair M. Ahmed; Omid Yaghini; Neda Hosseini; Maede Majidinezhad; Shahryar Alavi; Marjolein Bosma; Melissa H. Broeks; Dilşad Türdoğan; Mohnish Suri; Laiz Laura de Godoy; Nanda M. Verhoeven-Duif; Sheikh Riazuddin; Joseph G. Gleeson; Cesar Alves; Judith J.M. Jans; Saima Riazuddin; Henry Houlden; Reza Maroofian
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Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
errAnnals of Neurology
IF7.7
err2025-08-23
err0
errOAAI
errNathan Routledge; Maxime Lammens; Reza Maroofian; Bakht Beland; David Murphy; Asif Mir; Zia Ullah; Javeria Reza Alvi; Tipu Sultan; Stephanie Efthymiou; Frank Bosmans; Henry Houlden
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Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia
errMovement Disorders
IF7.6
err2025-08-07
err0
errOAAI
errReza Maroofian PhD; Juan Darío Ortigoza-Escobar MD, PhD; Pooja Rohilla PhD; Javeria Raza Alvi MD; Aziza M. Mushiba MD; Naif A.M. Almontashiri MD, PhD; Stephanie Efthymiou PhD; Tipu Sultan MD; Tamas Balla MD, PhD; Henry Houlden MD, PhD
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Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
errBRAIN
IF11.7
err2025-08-01
err1
errOAAI
errHirano, Yoko; Miyazaki, Yuri; Ishikawa, Daisuke; Inahashi, Hiroki; Al-Hassnan, Zuhair Nasser; Zifarelli, Giovanni; Bauer, Peter; Alvi, Javeria Raza; Sultan, Tipu; Thompson, Michelle L.; Sezer, Abdullah; Konuskan, Bahadir; Hajir, Razan S.; El-Hattab, Ayman W.; Efthymiou, Stephanie; Ishida, Ayuki; Yokoi, Norihiko; Kornau, Hans-Christian; Schmitz, Dietmar; Pruess, Harald; Houlden, Henry; Ikegaya, Yuji; Fukata, Yuko; Fukata, Masaki; Maroofian, Reza
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Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin
errNATURE COMMUNICATIONS
IF15.7
err2025-05-14
err0
errOAAI
errWoodward, Beth L.; Lahiri, Sudipta; Chauhan, Anoop S.; Garcia, Marcos Rios; Goodley, Lucy E.; Clarke, Thomas L.; Pal, Mohinder; Agathanggelou, Angelo; Jhujh, Satpal S.; Ganesh, Anil N.; Hollins, Fay M.; Deforie, Valentina Galassi; Maroofian, Reza; Efthymiou, Stephanie; Meinhardt, Andrea; Mathew, Christopher G.; Simpson, Michael A.; Mefford, Heather C.; Faqeih, Eissa A.; Rosenzweig, Sergio D.; Di Matteo, Gigliola; Cancrini, Caterina; Scardamaglia, Annarita; Shackley, Fiona; Davies, E. Graham; Ibrahim, Shahnaz; Arkwright, Peter D.; Zaki, Maha S.; Stankovic, Tatjana; Taylor, A. Malcolm R.; Mazur, Antonina J.; Di Donato, Nataliya; Houlden, Henry; Rothenberg, Eli; Stewart, Grant S.
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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errBuchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B.
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Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
errBRAIN COMMUNICATIONS
IF4.5
err2024-12-17
err0
errOAAI
errKaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
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Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-12
err0
errOAAI
errRahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Anjum, Muhammad Nadeem; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Alves, Cesar Augusto; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza
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Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
errNATURE GENETICS
IF31.8
err2024-11-22
err0
PREAI
errKaiyrzhanov, Rauan; Zharkinbekova, Nazira; Guliyeva, Ulviyya; Ganieva, Manizha; Tavadyan, Zaruhi; Gachechiladze, Tamar; Salayev, Kamran; Guliyeva, Sughra; Isayan, Mariam; Kekenadze, Mariam; Sukhudyan, Biayna; Gevorgyan, Ani; Hakobyan, Artsruni; Ibadova, Rima; Tabatadze, Nazi; Kurua, Ekaterina; Shatirishvili, Teona; Yerkhojayeva, Nigara; Koneev, Kairgali; Zhumakhanov, Dauren; Mukushev, Askhat; Jaxybayeva, Altynshash; Nauryzbayeva, Alissa; Isrofilov, Maksudjon; Badalova, Saadat; Zeyniyeva, Naila; Hajiyeva, Ilaha; Alakbarov, Leyla; Zeynalova, Aynur; Chelban, Viorica; Vandrovcova, Jana; Turchetti, Valentina; Murphy, David; Efthymiou, Stephanie; Alavi, Shahryar; Mohammad, Rahema; Tkemaladze, Tinatin; Shashkin, Chingiz; Tatishvili, Nana Nino; Beridze, Maia; Khachatryan, Samson G.; Melikishvili, Gia; Hardy, John; Maroofian, Reza; Houlden, Henry
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Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country
errBRAIN COMMUNICATIONS
IF4.5
err2024-11-14
err0
errOAAI
errFrezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson
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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
errEBIOMEDICINE
IF10.8
err2024-10-01
err1
errOAAI
errZarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
errNATURE COMMUNICATIONS
IF15.7
err2024-08-22
err0
errOAAI
errBanks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
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Research Directions

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Co-authors
Cooperation Journals
J
John Hardy
H-index: 207 · Papers: 1.9K
J
Jean‐Laurent Casanova
H-index: 171 · Papers: 1.4K
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
N
Nicholas Wood
H-index: 139 · Papers: 1.1W
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