Cyril Mignot

Also affiliated with Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris

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 2%percentile

2.0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Papers

Driven by 39 papers — median percentile 90. Top paper: “Lessons learned from 40 novel PIGA patients and a review of the literature”.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975

N/A

0DataRank · unranked

113 citations

Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck +58 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 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

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

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

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry(2021)10.1038/s41398-021-01490-9

N/A

0DataRank · unranked

47 citations

Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm +95 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

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0DataRank · unranked

29 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 more

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

PTPN4 germline variants result in aberrant neurodevelopment and growth

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100033

N/A

0DataRank · unranked

6 citations

Deepika Burkardt, Jorge L. Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg +11 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

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

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.11.002

N/A

0DataRank · unranked

33 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +21 more

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005

N/A

0DataRank · unranked

23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114

N/A

0DataRank · unranked

17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.492389

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +20 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 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

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 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

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Acta Neuropathologica Communications(2023)10.1186/s40478-023-01628-4

N/A

0DataRank · unranked

7 citations

Boris Keren, Cyril Mignot, Richard S. Brush, Marie‐Cécile Nassogne, Martin‐Paul Agbaga +1 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

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

Journal of Medical Genetics(2023)10.1136/jmg-2023-109293

N/A

0DataRank · unranked

3 citations

Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Le Roux, Cyril Mignot +17 more

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Brain(2024)10.1093/brain/awae175

N/A

0DataRank · unranked

21 citations

Bettina Jux, Shujuan Zhao, Kedous Y. Mekbib, Evan Dennis, Weilai Dong +25 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

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Genetics in Medicine(2024)10.1016/j.gim.2024.101087

N/A

0DataRank · unranked

8 citations

Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz +29 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 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

0DataRank · unranked

1 citations

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

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

Cyril Mignot

Indexed papers

Top data-sharing exemplar

Papers