Publications by authors named "Sergio B Sousa"

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Sérgio B Sousa

medRxiv· December 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Sergio B Sousa

Am J Hum Genet· November 2025

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Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.
Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør, Julián Nevado, Flavia Machado-Fernandes, Sergio B Sousa

Clin Endocrinol (Oxf)· August 2025

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Real-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal.
Inês B Rua, Isabel Silva, Christoph Beger, Cristina Gomes, Maria J Pais, Sérgio B Sousa

Adv Ther· August 2025

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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.
Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Sérgio B Sousa

Orphanet J Rare Dis· May 2025

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Considerations for Anthropometry Specific to People with Disproportionate Short Stature.
Julie Hoover-Fong, Oliver Semler, Bobbie Barron, Paulo Ferrez Collett-Solberg, Ellen Fung, Sérgio B Sousa

Adv Ther· March 2025

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Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Sérgio B Sousa

Orphanet J Rare Dis· March 2025

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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M Lardo, Sérgio B Sousa

Nat Commun· February 2025

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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Sergio B Sousa

Am J Med Genet C Semin Med Genet· December 2024

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Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova, Sergio B Sousa

Eur J Hum Genet· December 2024

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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Svein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Sérgio B Sousa

Adv Ther· July 2024

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Pachydysostosis of the fibula in a case of familial adenomatous polyposis.
Daniela Oliveira, Sofia Maia, Inês Balacó, Paulo Coelho, Susana Almeida, Sérgio B Sousa

Eur J Med Genet· April 2024

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ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
Lorena Casareto, Natasha M Appelman-Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Valérie Cormier-Daire, Sérgio Bernardo Sousa

Eur J Med Genet· April 2024

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Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael B Bober, Ricki Carroll, Sérgio B Sousa

Adv Ther· January 2024

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Fibrodysplasia ossificans progressiva: when a double skeleton is present.
Ana Isabel Maduro, Beatriz Mendes, André Pinto Saraiva, Marlene Sousa, Marta Marques, Sérgio B Sousa

Clin Rheumatol· November 2023

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Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.
Ravi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, Yuri A Zarate, Carlos A Bacino, Sérgio B Sousa

EClinicalMedicine· November 2023

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Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
André M Travessa, Patrícia Dias, Joana Rosmaninho-Salgado, Miriam Aza-Carmona, Oana Moldovan, Sérgio B Sousa, Ana Berta Sousa

Eur J Med Genet· November 2023

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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M Lardo, Sérgio B Sousa

bioRxiv· August 2023

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Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters.
Marlene Sousa, Ana Rita Prata, Ana Isabel Maduro, Sérgio B Sousa, Armando Malcata

Joint Bone Spine· July 2023

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, Silvia Modamio-Høybjør, Lucia Sentchordi-Montané, Sergio B Sousa

Clin Genet· July 2023

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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Sérgio B Sousa

Orphanet J Rare Dis· July 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Sergio B Sousa

Am J Hum Genet· June 2023

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ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sérgio B Sousa

Hum Mol Genet· April 2023

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Optimising care and follow-up of adults with achondroplasia.
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Sérgio B Sousa

Orphanet J Rare Dis· August 2022

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Sérgio B Sousa

Orphanet J Rare Dis· July 2022

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