Publications by authors named "Isabelle Maystadt"

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Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E Sanderson, Kornelia Tripolszki, Isabelle Maystadt

Mov Disord· November 2025

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RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Eline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Isabelle Maystadt

Invest Ophthalmol Vis Sci· September 2025

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A Novel PRNP Gene Mutation Associated with Gerstmann-Sträussler-Scheinker Syndrome.
Alexandra Bakolas, Mario Manto, Isabelle Maystadt, Mathieu Surin

Mov Disord· September 2025

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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Isabelle Maystadt

Clin Genet· August 2025

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Isabelle Maystadt

Am J Hum Genet· August 2025

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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Isabelle Maystadt

Genet Med· June 2025

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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Isabelle Maystadt

Res Sq· May 2025

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-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report.
Tanguy Demaret, Damien Feret, Barbara Lambert, Delphine Pranger, Jean-Louis Dargent, Isabelle Maystadt

Front Genet· April 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Isabelle Maystadt

J Med Genet· March 2025

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Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education?
Grégoire Wieërs, Simon Absil, Isabelle Maystadt, Charles Nicaise, Pauline Modrie

Front Med (Lausanne)· October 2024

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Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Isabelle Maystadt

medRxiv· September 2024

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Natural history of adults with KBG syndrome: A physician-reported experience.
Allan Bayat, Hannah Grimes, Elke de Boer, Morten Krogh Herlin, Rebekka Staal Dahl, Isabelle Maystadt

Genet Med· August 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Isabelle Maystadt

Am J Hum Genet· August 2024

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Isabelle Maystadt

Eur J Hum Genet· December 2023

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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt

Genet Med· November 2023

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SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Isabelle Maystadt

Am J Med Genet A· May 2023

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Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Isabelle Maystadt

Front Genet· April 2023

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Erratum: Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt

HGG Adv· January 2023

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Natural history of KBG syndrome in a large European cohort.
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Isabelle Maystadt

Hum Mol Genet· December 2022

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Isabelle Maystadt

Am J Hum Genet· October 2022

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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Céline B Gerber, Anna Fliedner, Oliver Bartsch, Siren Berland, Malin Dewenter, Isabelle Maystadt

Clin Genet· September 2022

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Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel heterozygous variant.
Charlène Lhuissier, Bart E Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Isabelle Maystadt

Front Neurol· September 2022

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Isabelle Maystadt

Clin Genet· August 2022

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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Alban Ziegler, Katharina Steindl, Ashleigh S Hanner, Rajesh Kumar Kar, Clément Prouteau, Isabelle Maystadt

Am J Hum Genet· August 2022

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Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Isabelle Maystadt

Front Endocrinol (Lausanne)· July 2022

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