Publications by authors named "Radka Stoeva"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Radka Stoeva

Cell· December 2025

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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
Jean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Radka Stoeva

Eur J Neurol· August 2025

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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Radka Stoeva

Neurology· July 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Radka Stoeva

Nat Genet· June 2025

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Radka Stoeva

Orphanet J Rare Dis· June 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Radka Stoeva

Eur J Hum Genet· May 2025

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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, Núria Martínez-Gil, Amaia Lasa-Aranzasti, Radka Stoeva

Eur J Hum Genet· January 2025

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Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.
Antonia M Stehr, Jerica Lenberg, Jennifer Friedman, Dries Dobbelaere, Apolline Imbard, Radka Stoeva

Clin Genet· January 2025

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Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Imène Lafraoui, Abdelkader Heddar, Adèle Cantalloube, Inès Braham, Maëliss Peigné, Radka Stoeva

Int J Mol Sci· November 2024

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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New Gene Variants.
Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, Muhammad Mahajnah, Radka Stoeva

Genes (Basel)· November 2024

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Radka Stoeva

Eur J Hum Genet· August 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Radka Stoeva

Eur J Hum Genet· August 2024

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Radka Stoeva

medRxiv· August 2024

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Radka Stoeva

Eur J Hum Genet· May 2024

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Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Clarisse Billon, Giorgina Barbara Piccoli, Jean-Madeleine de Sainte Agathe, Radka Stoeva, Nicolas Derive

Mol Genet Genomics· April 2024

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Radka Stoeva

Am J Hum Genet· December 2023

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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Radka Stoeva

medRxiv· May 2023

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Radka Stoeva

J Med Genet· June 2022

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Severe Phenotype in Patients with Large Deletions of .
Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Radka Stoeva

Cancers (Basel)· June 2021

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Radka Stoeva

Am J Hum Genet· June 2020

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Pseudoautosomal region 1 length polymorphism in the human population.
Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Radka Stoeva

PLoS Genet· November 2014

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach

Am J Med Genet A· May 2009

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Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
Radka E Stoeva, Liliana I Grozdanova, Joris R Vermeesch, Maria Kirchhoff, Jean-Pierre Fryns

Folia Med (Plovdiv)· March 2009

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