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American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.The Review of Scientific Instruments|December 3, 2022
A 2-4 keV multilayer mirrored channel for the NIF Dante systemM S Rubery, N Ose, M Schneider, et al.Nature Medicine|June 3, 2020
Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoringAsaf Zviran, Rafael C Schulman, Minita Shah, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.Science Advances|August 9, 2024
Integrated single-cell RNA-seq analysis reveals mitochondrial calcium signaling as a modulator of endothelial-to-mesenchymal transitionMathilde Lebas, Giorgia Chinigò, Evan Courmont, et al.European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.Biorxiv : the Preprint Server for Biology|January 23, 2024
Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairmentFlorian J Raabe, Anna Hausruckinger, Miriam Gagliardi, et al.Nature|July 5, 2013
The Mycobacterium tuberculosis regulatory network and hypoxiaJames E Galagan, Kyle Minch, Matthew Peterson, et al.BMC Medical Genomics|April 27, 2019
Sequencing and curation strategies for identifying candidate glioblastoma treatmentsMayu O Frank, Takahiko Koyama, Kahn Rhrissorrakrai, et al.Pageof 149