Frédéric Tran Mau‐Them

Also affiliated with Université de Bourgogne, CHU Dijon Bourgogne, Université Bourgogne Franche-Comté, Université Bourgogne Europe

Biochemistry, 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 20 papers. Top paper: “PURA- Related Developmental and Epileptic Encephalopathy”.

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 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

EIF3F -related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum

(2020)10.22541/au.160253804.44054844/v1

N/A

0DataRank · unranked

0 citations

Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary‐Alice Abbott, Syed A. Ahmed +34 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 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

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications(2022)10.1038/s41467-022-34264-y

N/A

0DataRank · unranked

45 citations

Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel +32 more

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

Genetics in Medicine(2022)10.1016/j.gim.2022.08.025

N/A

0DataRank · unranked

8 citations

Wanxue Xu, Abigail A Smith, Xinyu Miao, Agathe Lafont, Omar Shennib +23 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 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

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

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

N/A

0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2427085122

N/A

0DataRank · unranked

3 citations

Dechun Chen, Bumsik Cho, Rebecca S. Moore, Mohnish Suri, Hana Safraou +11 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.015

N/A

0DataRank · unranked

0 citations

Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris +21 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more