Polymorphic CGG repeats in gene regulation and disease

Bron
The American journal of human genetics - ISSN 1537-6605-113:6 (2026) p. 1131-1158
Auteur(s)

Next-generation mouse phenotyping identifies inhibitory network deficits and establishes a platform for preclinical drug screening in Fragile X Syndrome

Bron
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Biomedical Sciences, 2026,346 p.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

Bron
Cell - ISSN 0092-8674-188:25 (2025) p. 7065-7082.e17
Auteur(s)
    Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Serena Noss, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M. Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, Laila El Khattabi, Ingrid van de laar, Rafik Tadros, Connie R. Bezzina, Marjon van Slegtenhorst, Janneke Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddharth Banka, Anke Van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J. Lockhart, Myla Ashfaq, Elizabeth McCready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandara, Francesca Mari, Flavia Privitera, Ilaria Longo, Frank Kooy, Santhosh Girirajan