Genetics in Medicine Open

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2025.103476 K. Taylor Wild , Sara L. Reichert , Matthew C. Dulik , Alexandra Heck , Emma C. Bedoukian , Kathleen H. Wood , Katharine P. Callahan , Jennifer A. Hershey , David A. Munson , Kieran B. Pechter , Kelly Regan-Fendt , Anthony M. Gacita , Francis Jeshira Reynoso Santos , Morgan L. McManus , Natalie Burrill , Maria Alejandra Diaz-Miranda , Melissa A. Gilbert , Ian D. Krantz , Ramakrishnan Rajagopalan , Laura K. Conlin , Nancy B. Spinner

Expert opinion on facilitating intrafamily communication in rare diseases—Lessons from Fabry disease

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2025.103481 Dominique P. Germain , Fatma Al-Jasmi , Gheona Altarescu , Olga Azevedo , Fellype C. Barreto , Alessandro P. Burlina , Fatih Ezgü , Dawn A. Laney , Ales Linhart , Manish Maski , Sergey Moiseev , Dau-Ming Niu , Kotaro Nochioka , Yan Ouyang , Huseyin Onay , Mary Pavlou , Nicholas Pachter , Juan Politei , Sunbul Rawda , Richard P. Steeds , Irina Maksimova

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit

Pub Date : 2026-01-01 DOI: 10.1016/j.gimo.2025.103490 Siwaar Abouhala , Maya C. del Rosario , Ingrid A. Holm , Monica H. Wojcik