Author
Boston Children's HospitalORCID 0000-0002-5752-2614Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Nina B. Gold, Britt A. Johnson, Harini Somanchi…·Robert C. Green
The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.
Philip M. Boone, Serkan Erdin, Abucar Mohamed…·Ilaria Parenti
The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.
Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill
The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.
Shiyu Luo, Bilal K. AlWattar, Qifei Li…·Pankaj B. Agrawal
This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.
Riccardo Sangermano, Iris Deitch, Virginie G. Peter…·Kinga M. Bujakowska
The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.