A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
Year: 2026
Type: article
Authors: Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik, Zhi Tan, Ariel Brautbar, Maria DesCartes, Erica T. Gray, Alejandro Iglesias, Scott D. McLean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M. Wentzensen, Yufeng Shen, Damian W. Young, Martin M. Matzuk, Jason D. Heaney, Lindsay C. Burrage, Denise G. Lanza, Aleksander Milosavljevic, Matthew Roth, Uma Ramamurthy, Jill A. Rosenfeld, Sandesh C.S. Nagamani, Seema R. Lalani, Pengfei Liu, Ramin Z. Darshoori, Chih-Wei Hsu, Oguz Kanca, Michael F. Wangler, Hugo J. Bellen, Wendy K. Chung, Shinya Yamamoto
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: Cullen Foundation, Cancer Prevention and Research Institute of Texas, Ministry of Education, National Research Foundation of Korea, National Institutes of Health, Intellectual and Developmental Disabilities Research Center, NIH Office of the Director, National Institute of General Medical Sciences, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Office of Research Infrastructure Programs, National Institutes of Health
Awards: G1649372110, G1831285310, G1889957058, G270074628, G278171720, G2959418264, G2988816907, G3830015915, G4102661714, G4444814008, G5256721638, G5308642643, G9000074939, G9000109313, G9000177871, G9000189382, G9000317211, G9000370545, G9000371674, Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center, BCM CENTER FOR PRECISION MEDICINE MODELS, Genetics & Genomics Training Program, Transforming growth factor β family signaling pathways in ovarian and uterine biology, A Human cDNA Library for Functional Gene Replacement in Drosophila
OpenAlex ID: W7213900710