Researcher Profile

Emanuele Agolini

0000-0001-6543-6225

Publications

137

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Cell Death Discovery Mar 27, 2026

Lactate-mediated NK cell dysfunction as a prognostic marker and therapeutic target in breast cancer

Simone Ielpo · Francesca Barberini · Alice Gaiba · Camilla Baronti +17 more

10.1038/s41420-026-03063-5

Journal Article Genetics in Medicine Jul 01, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten · Sarah Bick · Sophia Adelson · Nils Gehlenborg +275 more

10.1016/j.gim.2025.101443 27 citations

Open Access Journal Article Nature Genetics Oct 22, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Reza Asadollahi · Aisha Ahmad · Paranchai Boonsawat · Jasmine Shahanoor Hinzen +146 more

10.1038/s41588-025-02361-5 2 citations

Open Access Journal Article Genetics in Medicine Jan 01, 2023

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld · Jack Reilly · Marie-Claire Cornips · Michael A. Hadders +55 more

10.1016/j.gim.2022.09.006 35 citations

Open Access Journal Article Genes Feb 14, 2023

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Anna Paola Capra · Maria Angela La Rosa · Sara Briguori · Rosa Civa +4 more

10.3390/genes14020484 14 citations

Open Access Journal Article The American Journal of Human Genetics May 01, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

John Devane · Elisabeth Ott · Eric G. Olinger · Daniel Epting +31 more

10.1016/j.ajhg.2022.03.015 51 citations

Journal Article Clinical Genetics Feb 20, 2020

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6

Emanuele Agolini · Claudio Cherchi · Emanuele Bellacchio · Diego Martinelli +6 more

10.1111/cge.13691 8 citations

Publication Timeline

2026

2025

2023

2022

2020

Frequent Co-Authors

4×

2×

2×

2×

2×

2×

2×

1×

1×

1×