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Molecular Oncology|April 8, 2020
Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomicsMax Krämer, Patrick S Plum, Oscar Velazquez Camacho, et al.Cell Reports|July 14, 2024
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndromeAlexandra Viktoria Busley, Óscar Gutiérrez-Gutiérrez, Elke Hammer, et al.Proceedings of the National Academy of Sciences of the United States of America|August 27, 2021
<i>ENHANCED GRAVITROPISM 2</i> encodes a STERILE ALPHA MOTIF-containing protein that controls root growth angle in barley and wheatGwendolyn K Kirschner, Serena Rosignoli, Li Guo, et al.Circulation|July 7, 2020
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated CardiomyopathyUlrich Hanses, Mandy Kleinsorge, Lennart Roos, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.American Journal of Human Genetics|November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexMaria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, et al.Human Molecular Genetics|August 7, 2013
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyMuhammad S Hussain, Shahid M Baig, Sascha Neumann, et al.American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.American Journal of Human Genetics|January 7, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos diseaseF Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, et al.Blood|December 21, 2018
The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphomaRabea Wagener, Julian Seufert, Francesco Raimondi, et al.Pageof 33