Giuseppe Merla

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index17.3kcitations221works2.62yr avg
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Research Topics

Genomics and Rare Diseases(42), Genetics and Neurodevelopmental Disorders(30), Congenital heart defects research(28), Williams Syndrome Research(26), Epigenetics and DNA Methylation(23)

Publications202 total

Non-cell-autonomous control of mouse gastruloid development by the ultra-conserved lncRNA T-UCstem1
The EMBO Journal·2025Open Access
The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis
Cell Death and Disease·2025Open Access
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
eLife·2025Open Access
Author response: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
2025Open Access
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
2025Open Access
Author response: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
2025Open Access
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma
Blood Advances·2025· 1 citedOpen Access
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis
Cell Communication and Signaling·2025Open Access
A Novel Intronic Variant in the <scp>KH3</scp> Domain of <scp>HNRNPK</scp> Leads to a Mild Form of Au‐Kline Syndrome
Clinical Genetics·2025Open Access
Genome-Wide DNA Methylation Profiling Led to the Identification of a Novel ZNF699 Mutation in a Patient with DEGCAGS Syndrome and Severe B Cell Depletion
Journal of Human Immunity·2025Open Access
Distinctive Genome-Wide DNA Methylation Profiling in a Cohort of Patients with Known Pathogenic STAT1 Gain-of-Function Variants
Journal of Human Immunity·2025Open Access
Study of Genome-Wide DNA Methylation Profile in a Large Cohort of Patients with 22q11.2 Deletion Syndrome
Journal of Human Immunity·2025Open Access
Author response for "A Novel Intronic Variant in the &lt;scp&gt;KH3&lt;/scp&gt; Domain of &lt;scp&gt;HNRNPK&lt;/scp&gt; Leads to a Mild Form of Au‐Kline Syndrome"
2025
Novel ciliary protein TRIM8 is a multifunctional workhorse during mitosis
2025Open Access
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data
Human Genomics·2024· 7 citedOpen Access
Non-cell-autonomous control of gastruloid development by the lncRNA <i>T-UCstem1</i> through DKK1-dependent modulation of WNT signalling
2024
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping
2024Open Access
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics·2024· 16 citedOpen Access
Microfluidic formulation of diazoxide-loaded solid lipid nanoparticles as a Novel approach for Friedreich's ataxia treatment
Journal of Drug Delivery Science and Technology·2024· 2 citedOpen Access
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Human Genetics·2024· 12 citedOpen Access
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Frequent Co-authors

Bartolomeo Augello(18), Alexandre Reymond(17), Lucia Micale(17), Carmela Fusco(13), Barbara Mandriani(8), Stylianos E. Antonarakis(6), Elisa Biamino(6), Gabriella Maria Squeo(6), Paolo Prontera(6), Maria Teresa Pellico(5), Siddharth Banka(4), Cédric Howald(4), Nicola Brunetti‐Pierri(4), Vito Michele Fazio(4), Orazio Palumbo(4), Massimo Carella(4), Pasquelena De Nittis(4), Leopoldo Zelante(4), M. Cristina Digilio(4), Cristina Gervasini(3)