Tarjinder Singh

Mar 10, 2024 | nature.com | Elisa Rahikkala |Veikko Salomaa |Jaana Suvisaari |Jukka Moilanen |Tarjinder Singh |Olli Pietiläinen | +3 more

AbstractIntellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants.

May 25, 2023 | nature.com | Chia-Yen Chen |Max Lam |Tarjinder Singh |Jimmy Liu |Aarno Palotie |Ellen A. Tsai | +4 more

AbstractCompelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding variants impact cognitive function in the adult population (n = 485,930). We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive function through rare coding variants with large effects.

Mar 13, 2023 | nature.com | Dongjing Liu |Brian K. Fennessy |Esther Cheng |Joseph D. Buxbaum |Enrico Domenici |Dheeraj Malhotra | +21 more

AbstractSchizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1.