Irene Valenzuela

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

Aileen A. Nava, Yaneth Perez-Rodriguez, Tzung‐Chien Hsieh, Alexander Byrne et autres

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Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

Neftalí Vázquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan et autres

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Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 Patients

Leszek Lisowski, Florencia Haase, Oselyne Ong, Irene Valenzuela et autres

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Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study

Mario Mastrangelo, Manuela Tolve, Irene Valenzuela, Giuliana Lentini et autres

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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

Irene Valenzuela, Marta Codina‐Solà, Anna M. Cueto‐González, Jordi Leno-Colorado et autres

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Identification of an episignature for the MEF2C-associated syndrome

Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A. Levy et autres

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DDX3X syndrome: a multicenter genotype-phenotype study

Emanuele G. Coci, Christoph G. W. Gertzen, Pilar Chacon Millan, Maria Daniela D ́Agostino et autres

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Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo et autres

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Sebastian Burkart, Tarik Guzeloglu, Ana Rita Soares, Irene Valenzuela et autres

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson et autres

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy

Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero, Nerea Moreno‐Ruiz et autres

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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders et autres

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