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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14.
Eur J Hum Genet. 2019.
PMID: 30552426
Free PMC article.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.
Asadollahi R, et al. Among authors: papik m.
Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10.
Eur J Hum Genet. 2018.
PMID: 29321670
Free PMC article.
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A.
Boonsawat P, et al. Among authors: papik m.
Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7.
Genet Med. 2019.
PMID: 30842647
Free PMC article.
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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P, Horn AHC, Steindl K, Baumer A, Joset P, Kraemer D, Bahr A, Ivanovski I, Cabello EM, Papik M, Zweier M, Oneda B, Sirleto P, Burkhardt T, Sticht H, Rauch A.
Boonsawat P, et al. Among authors: papik m.
NPJ Genom Med. 2022 Jul 29;7(1):45. doi: 10.1038/s41525-022-00316-x.
NPJ Genom Med. 2022.
PMID: 35906228
Free PMC article.
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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Grether A, Ivanovski I, Russo M, Begemann A, Steindl K, Abela L, Papik M, Zweier M, Oneda B, Joset P, Rauch A.
Grether A, et al. Among authors: papik m.
Mol Genet Genomic Med. 2023 May;11(5):e2148. doi: 10.1002/mgg3.2148. Epub 2023 Feb 13.
Mol Genet Genomic Med. 2023.
PMID: 36785910
Free PMC article.
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