Sébastien Küry

Centre National de la Recherche Scientifique

Also affiliated with Inserm, Centre Hospitalier Universitaire de Nantes, Institut du Thorax, Génétique Médicale & Génomique Fonctionelle, Nantes Université

Biochemistry, Genetics and Molecular BiologyMedicineNursing

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 32 papers. Top paper: “Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients”.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0.691DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Genetic architectures of proximal and distal colorectal cancer are partly distinct

Gut(2021)10.1136/gutjnl-2020-321534

N/A

0.657DataRank · unranked

79 citations

Tabitha A. Harrison, Stephanie A. Bien, Heather Hampel, Jane C. Figueiredo, Stephanie L. Schmit +95 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0.489DataRank · unranked

25 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0.483DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0.442DataRank · unranked

18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer

EBioMedicine(2024)10.1016/j.ebiom.2024.105146

N/A

0.396DataRank · unranked

13 citations

Andre Kim, Eric S. Kawaguchi, John L. Morrison, Virginia Díez‐Obrero, Demetrius Albanes +60 more

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100345

N/A

0.292DataRank · unranked

6 citations

Raymond J. Louie, Olivia Larner, Robert G. Best, Kevin Chen, Josephine Morris +27 more

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

UNC Libraries(2020)10.17615/h5py-pf04

N/A

0.269DataRank · unranked

5 citations

Stephanie M. Gogarten, Gerhard A. Coetzee, Martha L. Slattery, Laurence N. Kolonel, David Duggan +71 more

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study

Scientific Reports(2024)10.1038/s41598-024-75305-4

N/A

0.226DataRank · unranked

3 citations

Yi‐Qian Sun, Ben Brumpton, Yafang Li, Demetrius Albanes, Andrea N. Burnett‐Hartman +8 more

Using gene-environment interactions to explore pathways for colorectal cancer risk

EBioMedicine(2025)10.1016/j.ebiom.2025.105964

N/A

0.208DataRank · unranked

3 citations

Ren Yu, Andre E. Kim, Georgios Markozannes, Neil Murphy, Demetrius Albanes +58 more

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101120

N/A

0.170DataRank · unranked

2 citations

Xénia Latypova, Ka Ying Sharon Hung, Miguel A. Prado, Byung‐Hoon Lee, Sophie Möller +19 more

Multiple polygenic score approach in colorectal cancer risk prediction

Scientific Reports(2025)10.1038/s41598-025-21956-w

N/A

0.104DataRank · unranked

1 citations

Minta Thomas, Elisabeth A. Rosenthal, Amanda I. Phipps, Lori C. Sakoda, Franzel J. B. van Duijnhoven +39 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

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study

Research Square(2024)10.21203/rs.3.rs-4083598/v1

N/A

0DataRank · unranked

0 citations

Yi‐Qian Sun, Ben Brumpton, Yafang Li, Demetrius Albanes, Andrea N. Burnett‐Hartman +8 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 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

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

medRxiv(2025)10.64898/2025.12.11.25341975

N/A

0DataRank · unranked

0 citations

Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard +43 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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Genetic Predictors of Circulating 25-Hydroxyvitamin D and Risk of Colorectal Cancer

UNC Libraries(2020)10.17615/6az3-p679

N/A

0DataRank · unranked

0 citations

Emily White, Kana Wu, Edward L. Giovannucci, Robert E. Schoen, Steven Gallinger +39 more

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

UNC Libraries(2020)10.17615/ywy1-et04

N/A

0DataRank · unranked

0 citations

Daniela Seminara, Réka Tóth, Peter T. Campbell, Michael Hoffmeister, Tabitha A. Harrison +43 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.017

N/A

0DataRank · unranked

32 citations

Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan +41 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

N/A

0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

N/A

0DataRank · unranked

39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 more