Lydie Bürglen

Also affiliated with Inserm, Université Paris Cité, Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Hôpital d'Enfants

Biochemistry, Genetics and Molecular BiologyMedicine

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 12 papers. Top paper: “Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients”.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Annals of Neurology(2020)10.1002/ana.25751

N/A

0.654DataRank · unranked

77 citations

Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich +37 more

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications(2023)10.1038/s41467-023-39040-0

N/A

0DataRank · unranked

24 citations

Stefanie Eggers, Ben Rollo, Katherine R. Smith, N. Davidson, Nicole A. Siddall +38 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 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

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Brain(2024)10.1093/brain/awae299

N/A

0DataRank · unranked

3 citations

Guillermo Rodríguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure +18 more

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron(2020)10.1016/j.neuron.2020.01.042

N/A

0DataRank · unranked

223 citations

Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan +49 more

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies

Science Advances(2025)10.1126/sciadv.adw3717

N/A

0DataRank · unranked

1 citations

Erika Tavares, Katherine Bishara, Ayşegül Ozantürk, Leila Qebibo, Stephan Frangakis +25 more