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The European Physical Journal. C, Particles and Fields|January 31, 2020
Development of -containing scintillating bolometers for a high-sensitivity neutrinoless double-beta decay searchE Armengaud, C Augier, A S Barabash, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Molecular Psychiatry|October 23, 2019
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationJoshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
Molecular Psychiatry|August 16, 2018
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationJoshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
American Journal of Human Genetics|February 11, 2014
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacksGina M Peloso, Paul L Auer, Joshua C Bis, et al.
Physical Review Letters|August 20, 2016
Superdeformed and Triaxial States in ^{42}CaK Hadyńska-Klȩk, P J Napiorkowski, M Zielińska, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Nature Genetics|November 21, 2022
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's diseaseHenne Holstege, Marc Hulsman, Camille Charbonnier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2020
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controlsRoddy Walsh, Najim Lahrouchi, Rafik Tadros, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
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