Publications by authors named "Anna Chassevent"

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Anna Chassevent

Eur J Hum Genet· March 2025

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Anna Chassevent

Am J Hum Genet· July 2024

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Anna Chassevent

Nat Commun· July 2023

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Anna Chassevent

Brain· June 2023

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The different clinical facets of -related neurodevelopmental disorders.
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Anna Chassevent

Front Cell Dev Biol· December 2022

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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Guy Helman, Parand Zarekiani, Samantha A M Tromp, Ashley Andrews, Lorenzo D Botto, Anna Chassevent

Ann Neurol· November 2022

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Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Anna Chassevent

J Med Genet· July 2022

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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Anna Chassevent

Brain· June 2022

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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Halie J May, Jaehoon Jeong, Anya Revah-Politi, Julie S Cohen, Anna Chassevent

Genet Med· October 2021

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner, Anna Chassevent

Am J Hum Genet· October 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Anna Chassevent

Hum Mutat· April 2021

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Anna K Chassevent

Genet Med· February 2021

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Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Nina B Gold, Dong Li, Anna Chassevent, Frank J Kaiser, Ilaria Parenti

Clin Genet· December 2020

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S Bonnet, Peggy Tilly, Anna Chassevent

Nat Commun· May 2020

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ATP8A2-related disorders as recessive cerebellar ataxia.
Claire Guissart, Alexander N Harrison, Mehdi Benkirane, Ibrahim Oncel, Elif Acar Arslan, Anna K Chassevent

J Neurol· January 2020

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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Richard J Holt, Rodrigo M Young, Berta Crespo, Fabiola Ceroni, Cynthia J Curry, Anna Chassevent

Am J Hum Genet· September 2019

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