Publications by authors named "Audrey Labalme"

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Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.
Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Audrey Labalme

J Med Genet· November 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Audrey Labalme

medRxiv· September 2025

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Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.
Fanny Fontaine, Audrey Labalme, Chloé Laurencin, Julian Theuriet, Arnaud Jacquier

Eur J Hum Genet· August 2025

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Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Audrey Labalme

Clin Genet· June 2025

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Transposable element expression is associated with sex chromosome number in humans.
Jordan Teoli, Miriam Merenciano, Marie Fablet, Anamaria Necsulea, Daniel Siqueira-de-Oliveira, Audrey Labalme

PLoS Genet· June 2025

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Audrey Labalme

Eur J Hum Genet· September 2024

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Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron

Epilepsia Open· June 2024

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GRM7-related disorder: five additional patients from three independent families and review of the literature.
Louis Januel, Nicolas Chatron, Clotilde Rivier-Ringenbach, Sara Cabet, Audrey Labalme

Eur J Med Genet· February 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Audrey Labalme

Neurology· January 2024

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GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Lotten Ragnarsson, Zihan Zhang, Sooraj S Das, Poanna Tran, Åsa Andersson, Audrey Labalme

Epilepsia· December 2023

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Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Séverine Mazaud-Guittot

Genes (Basel)· January 2023

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao

EBioMedicine· October 2022

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DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Maud Tusseau, Ema Lovšin, Charlotte Samaille, Rémi Pescarmona, Anne-Laure Mathieu, Audrey Labalme

J Clin Immunol· August 2022

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Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti

Front Pharmacol· June 2022

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Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses.
Sara Cabet, Alexandre Vasiljevic, Audrey Putoux, Audrey Labalme, Damien Sanlaville

Prenat Diagn· April 2022

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Gain of function due to increased opening probability by two pore variants causing developmental and epileptic encephalopathy.
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme

Proc Natl Acad Sci U S A· April 2022

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Audrey Labalme

Hum Mutat· March 2022

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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Audrey Labalme

Eur J Med Genet· March 2022

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Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Yohann Jourdy, Claire Bardel, Mathilde Fretigny, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Audrey Labalme

Haemophilia· January 2022

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Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
Lucas W Gauthier, Nicolas Chatron, Sara Cabet, Audrey Labalme, Maryline Carneiro

Eur J Med Genet· November 2021

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Audrey Labalme

Genet Med· June 2021

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Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Laure Mazzola, Karen L Oliver, Audrey Labalme, Betül Baykan, Mikko Muona

Ann Neurol· February 2021

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Audrey Labalme

Am J Hum Genet· November 2020

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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Linda Pons, Isabelle Sabatier, Eudeline Alix, Marie Faoucher, Audrey Labalme

Eur J Med Genet· October 2020

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Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Maria Virginia Soldovieri, Elena Freri, Paolo Ambrosino, Ilaria Rivolta, Ilaria Mosca, Audrey Labalme

Pharmacol Res· October 2020

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