Publications by authors named "Anna Cereda"

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First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla, Luigina Spaccini, Anna Cereda

Clin Genet· October 2025

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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, Chiara Fossati, Germana Viscogliosi, Anna Cereda

Front Immunol· July 2025

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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, Antonella Lettieri, Elisabetta Di Fede, Anna Cereda

Orphanet J Rare Dis· December 2024

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Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Anna Cereda

Ann Clin Transl Neurol· October 2024

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Double somatic mosaicism in Cornelia de Lange syndrome.
Lidia Pezzani, Laura Pezzoli, Erica Rosina, Agnese Scatigno, Anna Cereda

Am J Med Genet A· May 2024

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Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Erica Rosina, Lidia Pezzani, Erika Apuril, Laura Pezzoli, Daniela Marchetti, Anna Cereda

Mol Genet Genomic Med· January 2024

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-related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Anna Cereda

J Med Genet· October 2023

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Rock around DYRK1A: Ethnic diversity, clinical challenges.
Alice Moroni, Lidia Pezzani, Enrico Alfei, Agnese Scatigno, Anna Cereda

Am J Med Genet A· May 2023

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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Anna Cereda

J Med Genet· February 2023

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Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.
Cecilia Ghisleni, Barbara Parma, Paola Cianci, Anita De Paoli, Elisabetta Pangallo, Anna Cereda

Am J Med Genet A· January 2023

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Anna Cereda

HGG Adv· January 2023

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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
Paola Francesca Ajmone, Beatrice Allegri, Anna Cereda, Giovanni Michelini, Francesca Dall'Ara

J Autism Dev Disord· November 2022

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Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Anna Cereda

Genes (Basel)· July 2022

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Laura Pezzoli, Lidia Pezzani, Ezio Bonanomi, Chiara Marrone, Agnese Scatigno, Anna Cereda

J Cardiovasc Dev Dis· December 2021

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Anna Cereda

Am J Hum Genet· June 2021

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Anna Cereda

Genome Med· April 2021

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Anna Cereda

Genet Med· February 2021

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Anna Cereda

Cell Death Discov· February 2021

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Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.
Barbara Parma, Paola Cianci, Valentina Decimi, Milena Mariani, Maria Cristina Provero, Anna Cereda

Am J Med Genet A· September 2020

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Anna Cereda

Genet Med· July 2020

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Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
Barbara Parma, Paola Cianci, Milena Mariani, Anna Cereda, Roberto Panceri

Am J Med Genet A· July 2020

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Anna Cereda

Mol Genet Genomic Med· March 2020

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A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, Anna Cereda, Daniela Mamoli

Glycobiology· January 2020

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Cohesin complex-associated holoprosencephaly.
Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Anna Cereda

Brain· September 2019

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Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Emanuele Nicastro, Angelo Di Giorgio, Daniela Marchetti, Chiara Barboni, Anna Cereda

J Pediatr· August 2019

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