Publications by authors named "Annette Schenck"

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A conserved epilepsy-associated gene co-expression module identifies increased metabolic rate as a shared pathomechanism.
Jingyi Long, Spencer G Jones, Ana Serna, Boyd van Reijmersdal, Franziska Kampshoff, Annette Schenck

Dis Model Mech· May 2025

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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Lachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, Jingyi Long, Anaïs Begemann, Annette Schenck

Genet Med· January 2025

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KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.
Matanel Yheskel, Hayden A M Hatch, Erika Pedrosa, Bethany K Terry, Aubrey A Siebels, Annette Schenck

Nucleic Acids Res· June 2024

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Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Arianne Bouman, Joyce M Geelen, Joost Kummeling, Annette Schenck, Yvonne G van der Zwan

Am J Med Genet A· May 2024

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Pre-Pulse Inhibition of an escape response in adult fruit fly, .
Erika Viragh, Lenke Asztalos, Michaela Fenckova, Tamas Szlanka, Zoltan Gyorgypal, Annette Schenck

Res Sq· January 2024

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Ataxia-associated DNA repair genes protect the mushroom body and locomotor function against glutamate signaling-associated damage.
Ilse Eidhof, Alina Krebbers, Bart van de Warrenburg, Annette Schenck

Front Neural Circuits· July 2023

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The translational genetics of ADHD and related phenotypes in model organisms.
Judit Cabana-Domínguez, Ester Antón-Galindo, Noèlia Fernàndez-Castillo, Euginia L Singgih, Aet O'Leary, Annette Schenck

Neurosci Biobehav Rev· January 2023

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Genetics, molecular control and clinical relevance of habituation learning.
Laura Elisabeth Rosalie Blok, Marina Boon, Boyd van Reijmersdal, Kira Daniela Höffler, Michaela Fenckova, Annette Schenck

Neurosci Biobehav Rev· December 2022

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Annette Schenck

Genet Med· September 2022

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Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila.
Michaela Fenckova, Villo Muha, Daniel Mariappa, Marica Catinozzi, Ignacy Czajewski, Annette Schenck

PLoS Genet· May 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Annette Schenck

Am J Hum Genet· April 2022

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Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone .
Matthew J Jennings, Denisa Hathazi, Chi D L Nguyen, Benjamin Munro, Ute Münchberg, Annette Schenck

Front Cell Dev Biol· October 2021

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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Adriana P Rebelo, Ilse Eidhof, Vivian P Cintra, Léna Guillot-Noel, Claudia V Pereira, Annette Schenck

Brain· June 2021

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The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Mireia Coll-Tané, Naihua N Gong, Samuel J Belfer, Lara V van Renssen, Evangeline C Kurtz-Nelson, Annette Schenck

Sci Adv· June 2021

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The epigenetic regulator G9a attenuates stress-induced resistance and metabolic transcriptional programs across different stressors and species.
Human Riahi, Michaela Fenckova, Kayla J Goruk, Annette Schenck, Jamie M Kramer

BMC Biol· May 2021

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Investigating cytosolic 5'-nucleotidase II family genes as candidates for neuropsychiatric disorders in Drosophila (114/150 chr).
Euginia L Singgih, Monique van der Voet, Marlies Schimmel-Naber, Emma L Brinkmann, Annette Schenck

Transl Psychiatry· January 2021

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From Rare Copy Number Variants to Biological Processes in ADHD.
Benjamin Harich, Monique van der Voet, Marieke Klein, Pavel Čížek, Michaela Fenckova, Annette Schenck

Am J Psychiatry· September 2020

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Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in .
Marieke Klein, Euginia L Singgih, Anne van Rens, Ditte Demontis, Anders D Børglum, Annette Schenck

Am J Psychiatry· June 2020

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-GlcNAcase contributes to cognitive function in .
Villo Muha, Michaela Fenckova, Andrew T Ferenbach, Marica Catinozzi, Ilse Eidhof, Annette Schenck

J Biol Chem· June 2020

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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Ilse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, Annette Schenck, Bart P van de Warrenburg

Brain· June 2020

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From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.
Benjamin Harich, Marieke Klein, Charlotte W Ockeloen, Monique van der Voet, Marlies Schimmel-Naber, Annette Schenck

J Child Psychol Psychiatry· May 2020

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Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.
Michaela Fenckova, Laura E R Blok, Lenke Asztalos, David P Goodman, Pavel Cizek, Annette Schenck

Biol Psychiatry· August 2019

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Intellectual disability and autism spectrum disorders 'on the fly': insights from .
Mireia Coll-Tané, Alina Krebbers, Anna Castells-Nobau, Christiane Zweier, Annette Schenck

Dis Model Mech· May 2019

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The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption.
Human Riahi, Carlijn Brekelmans, Sarah Foriel, Sarah H Merkling, Taylor A Lyons, Annette Schenck

PLoS Biol· March 2019

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A Mitochondrial Complex I Deficiency Phenotype Array.
Sarah Foriel, G Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J Rodenburg, Annette Schenck

Front Genet· March 2019

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