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Human Genetics|February 15, 2020
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathiesIvana Lessel, Mei-Jan Chen, Sabine Lüttgen, et al.Human Genetics|May 10, 2022
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4Heidemarie Neitzel, Raymonda Varon, Sana Chughtai, et al.Molecular Oncology|September 17, 2018
Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutationsIris F Macheleidt, Priya S Dalvi, So-Young Lim, et al.Journal of Thrombosis and Haemostasis : JTH|January 25, 2021
Consumptive coagulopathy is associated with a disturbed host response in patients with sepsisLonneke A van Vught, Fabrice Uhel, Chao Ding, et al.Human Genetics|March 21, 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephalyFranziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, et al.European Journal of Human Genetics : EJHG|January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsyDheeraj R Bobbili, Dennis Lal, Patrick May, et al.Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.Neurology|November 2, 2014
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsyKerstin Hallmann, Gábor Zsurka, Susanna Moskau-Hartmann, et al.Nature Genetics|February 26, 2008
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthSandra M Pasternack, Ivar von Kügelgen, Khalid Al Aboud, et al.Brain : a Journal of Neurology|June 18, 2010
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathySebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, et al.Pageof 52