Marie Vincent

Centre National de la Recherche Scientifique

Also affiliated with Inserm, Institut de Génétique Moléculaire de Montpellier, Institut Universitaire de Recherche Clinique, Institut du Thorax, Génétique Médicale & Génomique Fonctionelle

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 13 papers. Top paper: “Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome”.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 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

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0.269DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 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

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 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

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Acta Neuropathologica(2020)10.1007/s00401-020-02223-w

N/A

0DataRank · unranked

46 citations

Edgard Verdura, Natalia Juliá‐Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas‐Serra +33 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 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

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63559

N/A

0DataRank · unranked

7 citations

Angela Morgan, Meghan N. Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun +27 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