Stéphanie Efthymiou

National Hospital for Neurology and Neurosurgery

Also affiliated with University College London

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 45 papers. Top paper: “Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores”.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0.568DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs

Cell Reports(2025)10.1016/j.celrep.2024.115092

N/A

0.541DataRank · unranked

18 citations

Aidan C. Manning, Jenna M. Lentini, Jonathan C. Howard, Felix Dalwigk, Reza Maroofian +12 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0.477DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0.312DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0.269DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

European Journal of Human Genetics(2024)10.1038/s41431-024-01563-5

N/A

0.241DataRank · unranked

4 citations

Jessica E. Rexach, Stéphanie Efthymiou, Büşra Aynekin, Hüseyin Per, Ayten Güleç +12 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0.208DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

Nature Communications(2025)10.1038/s41467-025-59553-0

N/A

0.165DataRank · unranked

2 citations

Sudipta Lahiri, Anoop Singh Chauhan, Marcos Rios Garcia, Lucy E Goodley, Thomas L. Clarke +31 more

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology(2025)10.1002/ana.78014

N/A

0.104DataRank · unranked

1 citations

Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir +7 more

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

Molecular Syndromology(2024)10.1159/000543107

N/A

0.104DataRank · unranked

1 citations

Bahadır M. Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilgüvar, Ayten Güleç, Stéphanie Efthymiou +4 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

Genes(2024)10.3390/genes15091203

N/A

0.104DataRank · unranked

1 citations

Haseeb Anwar, Humaira Muzaffar, Valentina Turchetti, Tracy Lau, Barbara Vona +7 more

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Brain(2024)10.1093/brain/awae363

N/A

0.104DataRank · unranked

1 citations

Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali +51 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain(2020)10.1093/brain/awz418

N/A

0DataRank · unranked

221 citations

Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane +37 more

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Frontiers in Molecular Neuroscience(2024)10.3389/fnmol.2024.1222935

N/A

0DataRank · unranked

5 citations

Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala +22 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway

Brain(2025)10.1093/brain/awaf202

N/A

0DataRank · unranked

3 citations

Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi, Zuhair N. Al‐Hassnan, Giovanni Zifarelli +20 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

Movement Disorders(2025)10.1002/mds.30286

N/A

0DataRank · unranked

1 citations

Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza Mushiba, Naif A. M. Almontashiri +5 more

SLK is mutated in individuals with a neurodevelopmental disorder

EBioMedicine(2025)10.1016/j.ebiom.2025.105725

N/A

0DataRank · unranked

2 citations

Norah Altuwaijri, Jun‐yi Zhu, Stéphanie Efthymiou, Hangnoh Lee, Jianli Duan +94 more

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

medRxiv(2025)10.1101/2025.10.01.25336578

N/A

0DataRank · unranked

0 citations

Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri +37 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

European Journal of Human Genetics(2024)10.1038/s41431-024-01759-9

N/A

0DataRank · unranked

3 citations

Luisa Marsili, Domizia Pasquetti, Abolfazl Rad, Muhammad Nadeem Anjum, Gabriela Oprea +9 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Human Genomics(2021)10.1186/s40246-021-00342-3

N/A

0DataRank · unranked

35 citations

Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop +30 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

N/A

0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62221

N/A

0DataRank · unranked

18 citations

Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip +17 more

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074

N/A

0DataRank · unranked

15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Brain(2023)10.1093/brain/awad203

N/A

0DataRank · unranked

11 citations

Seongsik Won, Roy Poh, Stéphanie Efthymiou, James M. Polke, Mariola Skorupinska +9 more

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain(2023)10.1093/brain/awad434

N/A

0DataRank · unranked

8 citations

Xinfu Jiao, J. Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck‐Wödl +35 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain(2024)10.1093/brain/awae010

N/A

0DataRank · unranked

14 citations

Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang +24 more