Ilaria Parenti
8PUBLICATIONS
163CO-AUTHORS
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Publications (8)
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|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Dec 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Jul 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.Sietse M Aukema, Kim Vandenput, Emanuela Scarano
|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara
|Dec 09, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac
|Nov 03, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.Elsa Leitão, Christopher Schröder, Ilaria Parenti
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Frequent Collaborators
3 joint publications
Elsa Leitão
2 joint publications
Gholson J Lyon
2 joint publications
Caroline Nava
2 joint publications
Beatriz Puisac
2 joint publications
Siddharth Banka
2 joint publications
Frédéric Tran Mau-Them
2 joint publications
Feliciano J Ramos
2 joint publications
Christel Depienne
2 joint publications
Antonio Vitobello
2 joint publications
Anita Rauch
