Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

Source
Genome medicine - ISSN 1756-994X-17:1 (2025) p. 1-16
Author(s)
    Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani, Nazia Ibrahim, Shagufta Naz, Jacqueline Chrast, Clara Pailler-Pradeau, Ásmundur Oddsson, Patrick Sulem, Gisli H. Halldorsson, Páll Melsted, Daníel F. Guðbjartsson, Flavia Palombo, Tommaso Pippucci, Nayereh Nouri, Marco Seri, Emily G. Farrow, Carol J. Saunders, Nicolas Guex, Muhammad Ansar, Kari Stefansson, Alexandre Reymond

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Source
Npj genomic medicine - ISSN 2056-7944-10:1 (2025) p. 1-9
Author(s)
    Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere