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2013 1
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2020 2
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14 results

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Page 1
Global disparities in SARS-CoV-2 genomic surveillance.
Brito AF, Semenova E, Dudas G, Hassler GW, Kalinich CC, Kraemer MUG, Ho J, Tegally H, Githinji G, Agoti CN, Matkin LE, Whittaker C; Bulgarian SARS-CoV-2 sequencing group; Communicable Diseases Genomics Network (Australia and New Zealand); COVID-19 Impact Project; Danish Covid-19 Genome Consortium; Fiocruz COVID-19 Genomic Surveillance Network; GISAID core curation team; Network for Genomic Surveillance in South Africa (NGS-SA); Swiss SARS-CoV-2 Sequencing Consortium; Howden BP, Sintchenko V, Zuckerman NS, Mor O, Blankenship HM, de Oliveira T, Lin RTP, Siqueira MM, Resende PC, Vasconcelos ATR, Spilki FR, Aguiar RS, Alexiev I, Ivanov IN, Philipova I, Carrington CVF, Sahadeo NSD, Branda B, Gurry C, Maurer-Stroh S, Naidoo D, von Eije KJ, Perkins MD, van Kerkhove M, Hill SC, Sabino EC, Pybus OG, Dye C, Bhatt S, Flaxman S, Suchard MA, Grubaugh ND, Baele G, Faria NR. Brito AF, et al. Nat Commun. 2022 Nov 16;13(1):7003. doi: 10.1038/s41467-022-33713-y. Nat Commun. 2022. PMID: 36385137 Free PMC article.
Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland.
Chen C, Nadeau SA, Topolsky I, Manceau M, Huisman JS, Jablonski KP, Fuhrmann L, Dreifuss D, Jahn K, Beckmann C, Redondo M, Noppen C, Risch L, Risch M, Wohlwend N, Kas S, Bodmer T, Roloff T, Stange M, Egli A, Eckerle I, Kaiser L, Denes R, Feldkamp M, Nissen I, Santacroce N, Burcklen E, Aquino C, de Gouvea AC, Moccia MD, Grüter S, Sykes T, Opitz L, White G, Neff L, Popovic D, Patrignani A, Tracy J, Schlapbach R, Dermitzakis ET, Harshman K, Xenarios I, Pegeot H, Cerutti L, Penet D, Blin A, Elies M, Althaus CL, Beisel C, Beerenwinkel N, Ackermann M, Stadler T. Chen C, et al. Among authors: pegeot h. Epidemics. 2021 Dec;37:100480. doi: 10.1016/j.epidem.2021.100480. Epub 2021 Aug 9. Epidemics. 2021. PMID: 34488035 Free PMC article.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. François-Heude MC, et al. Among authors: pegeot h. Eur J Paediatr Neurol. 2021 Mar;31:78-87. doi: 10.1016/j.ejpn.2021.01.011. Epub 2021 Feb 17. Eur J Paediatr Neurol. 2021. PMID: 33667896
Novel dominant distal titinopathy phenotype associated with copy number variation.
Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. Perrin A, et al. Among authors: pegeot h. Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912. doi: 10.1002/acn3.51434. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34312993 Free PMC article.
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. Perrin A, et al. Among authors: pegeot h. Neuromuscul Disord. 2020 Nov;30(11):877-887. doi: 10.1016/j.nmd.2020.09.032. Epub 2020 Sep 28. Neuromuscul Disord. 2020. PMID: 33127292 Free article.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. Juntas Morales R, et al. Among authors: pegeot h. Genes (Basel). 2021 Jul 31;12(8):1199. doi: 10.3390/genes12081199. Genes (Basel). 2021. PMID: 34440373 Free PMC article.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C. Géraud J, et al. Among authors: pegeot h. J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994279 Free PMC article.
14 results