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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1991 2
1993 1
1995 1
1996 1
1997 1
1998 4
2000 1
2001 1
2002 2
2003 2
2005 3
2006 6
2007 3
2008 1
2009 2
2010 8
2011 11
2012 6
2013 4
2014 6
2015 9
2016 5
2017 2
2018 3
2019 7
2020 6
2021 2
2023 1
2024 0

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87 results

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Page 1
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: stoetzel c. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Among authors: stoetzel c. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370 Free PMC article.
AnnotSV: an integrated tool for structural variations annotation.
Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, Muller J. Geoffroy V, et al. Among authors: stoetzel c. Bioinformatics. 2018 Oct 15;34(20):3572-3574. doi: 10.1093/bioinformatics/bty304. Bioinformatics. 2018. PMID: 29669011
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S. Durand B, et al. Among authors: stoetzel c. Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978614 Review.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Scheidecker S, et al. Among authors: stoetzel c. Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31116475 Free article.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Geoffroy V, et al. Among authors: stoetzel c. Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8. Hum Mutat. 2018. PMID: 29688594 Free article.
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo JC, Ralison G, Andriamasinoro RO, Ramanampamaharana RH, Randrianazary SE, Richard B, Gorry P, Manière MC, Rakoto Alson S, Dollfus H. Bloch-Zupan A, et al. Among authors: stoetzel c. Front Physiol. 2016 Mar 2;7:70. doi: 10.3389/fphys.2016.00070. eCollection 2016. Front Physiol. 2016. PMID: 26973538 Free PMC article.
87 results