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Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Journal of Hypertension|May 24, 2016
Methodology and technology for peripheral and central blood pressure and blood pressure variability measurement: current status and future directions - Position statement of the European Society of Hypertension Working Group on blood pressure monitoring and cardiovascular variabilityGeorge S Stergiou, Gianfranco Parati, Charalambos Vlachopoulos, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 23, 2025
Lamin A/C loss promotes R-loop-mediated genomic instability and poor survival in small-cell lung cancerChristopher W Schultz, Sourav Saha, Anjali Dhall, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
Biorxiv : the Preprint Server for Biology|October 17, 2024
Metastatic organotropism in small cell lung cancerManan Krishnamurthy, Anjali Dhall, Sarthak Sahoo, et al.
Physical Review Letters|February 28, 2002
(68)(28)Ni(40): Magicity versus superfluidityO Sorlin, S Leenhardt, C Donzaud, et al.
Cancer Discovery|January 30, 2023
Extrachromosomal DNA Amplification Contributes to Small Cell Lung Cancer Heterogeneity and Is Associated with Worse OutcomesLőrinc Sándor Pongor, Christopher W Schultz, Lorenzo Rinaldi, et al.
European Heart Journal|May 15, 2024
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk lociTaisuke Ishikawa, Tatsuo Masuda, Tsuyoshi Hachiya, et al.
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