Last Updated: 09/26/2026
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Found 45 publications
Allogeneic hematopoietic cell transplantation in mature T- or NK-lymphomas: a phase II clinical trial.
Journal: Nature communications
Published: April 23, 2025
Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.
Journal: Annals of the rheumatic diseases
Published: January 30, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2024
Initial Experiences with Amyloid-Related Imaging Abnormalities in Patients Receiving Aducanumab Following Accelerated Approval.
Journal: The journal of prevention of Alzheimer's disease
Published: October 24, 2023
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Journal: The Journal of clinical investigation
Published: March 08, 2023
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Journal: Disease models & mechanisms
Published: February 07, 2023
Yap and Taz promote osteogenesis and prevent chondrogenesis in neural crest cells in vitro and in vivo.
Journal: Science signaling
Published: October 25, 2022
ATRX silences Cartpt expression in osteoblastic cells during skeletal development.
Journal: The Journal of clinical investigation
Published: July 18, 2022
DDRGK1 is required for the proper development and maintenance of the growth plate cartilage.
Journal: Human molecular genetics
Published: January 06, 2022
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 23, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Journal: American journal of human genetics
Published: February 18, 2021
Last Updated: 09/26/2026