Publications by authors named "Giuseppe Merla"

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Non-cell-autonomous control of mouse gastruloid development by the ultra-conserved lncRNA T-UCstem1.
Arianna Coppola, Filomena Amoroso, Federica Saracino, Gennaro Andolfi, Edoardo Sozzi, Giuseppe Merla

EMBO J· December 2025

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A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giuseppe Merla

Clin Genet· November 2025

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BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma.
Claudia Pignataro, Pietro Zoppoli, Luca Vincenzo Cappelli, Liron Yoffe, Marta Moretti, Giuseppe Merla

Blood Adv· October 2025

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The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis.
Utsa Bhaduri, Eleonora Di Venere, Gabriella Maria Squeo, Giorgia Gemma, Francesco Tamiro, Giuseppe Merla

Cell Death Dis· October 2025

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Heterozygous variants in affect hearing, vision, cardiac, and immune function.
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Giuseppe Merla

Elife· August 2025

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Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis.
Giuseppina di Paola, Francesco Albano, Pietro Zoppoli, Daniele Bravoco, Teresa D'Amore, Giuseppe Merla

Cell Commun Signal· July 2025

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Heterozygous variants in affect hearing, vision, cardiac, and immune function.
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Giuseppe Merla

medRxiv· May 2025

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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Giuseppe Merla

Hum Genomics· November 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Giuseppe Merla

Am J Hum Genet· August 2024

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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Giuseppe Merla

Eur J Hum Genet· July 2024

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Giuseppe Merla

Hum Genet· June 2024

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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karim Karimi, Merel O Mol, Sadegheh Haghshenas, Raissa Relator, Michael A Levy, Giuseppe Merla

Genet Med· March 2024

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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Giuseppe Merla

J Am Heart Assoc· February 2024

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Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Francesca Cillo, Emma Coppola, Federico Habetswallner, Francesco Cecere, Laura Pignata, Giuseppe Merla

Genes (Basel)· February 2024

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Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Giuseppe Merla

Clin Genet· November 2023

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Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, Mariasavina Severino, Alessandra D'Amico, Giuseppe Merla

Clin Genet· September 2023

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The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages.
Alessandra Romagnoli, Martina Di Rienzo, Elisa Petruccioli, Carmela Fusco, Ivana Palucci, Giuseppe Merla

Cell Death Dis· August 2023

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DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers.
Fabio Coppedè, Utsa Bhaduri, Andrea Stoccoro, Vanessa Nicolì, Eleonora Di Venere, Giuseppe Merla

Int J Mol Sci· July 2023

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FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Giuseppe Merla

Nat Commun· April 2023

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Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line.
Francesco De Leonardis, Simona Nicole Barile, Claudia Cianci, Isabella Pisano, Giuseppe Merla

J Cancer· April 2023

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with / variants.
Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Giuseppe Merla

Epigenomics· March 2023

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Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.
Maria Savino, Claudio Carmine Guida, Maria Nardella, Emanuele Murgo, Bartolomeo Augello, Giuseppe Merla

Biomedicines· December 2022

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Giuseppe Merla

Hum Mutat· November 2022

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A perspective on diet, epigenetics and complex diseases: where is the field headed next?
Fabio Coppedè, Marica Franzago, Emiliano Giardina, Cristiana Lo Nigro, Giuseppe Matullo, Giuseppe Merla

Epigenomics· October 2022

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Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Annalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, Erica Cardea, Tommaso Mazza, Giuseppe Merla

J Hum Genet· September 2022

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