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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15307-2
By:
- Liautard-Haag, C.;
- Durif, G.;
- VanGoethem, C.;
- Baux, D.;
- Louis, A.;
- Cayrefourcq, L.;
- Lamairia, M.;
- Willems, M.;
- Zordan, C.;
- Dorian, V.;
- Rooryck, C.;
- Goizet, C.;
- Chaussenot, A.;
- Monteil, L.;
- Calvas, P.;
- Miry, C.;
- Favre, R.;
- Le Boette, E.;
- Fradin, M.;
- Roux, A. F.
Publication type:
Article
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 2, p. 374, doi. 10.1111/cge.13074
By:
- Trimouille, A.;
- Lasseaux, E.;
- Barat, P.;
- Deiller, C.;
- Drunat, S.;
- Rooryck, C.;
- Arveiler, B.;
- Lacombe, D.
Publication type:
Article
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 449, doi. 10.1111/cge.12977
By:
- Trimouille, A.;
- Barouk‐Simonet, E.;
- Charron, S.;
- Bouron, J.;
- Bernhard, J.‐C.;
- Lacombe, D.;
- Fergelot, P.;
- Rooryck, C.
Publication type:
Article
Fetal phenotypes in otopalatodigital spectrum disorders.
Published in:
Clinical Genetics, 2016, v. 89, n. 3, p. 371, doi. 10.1111/cge.12679
By:
- Naudion, S.;
- Moutton, S.;
- Coupry, I.;
- Sole, G.;
- Deforges, J.;
- Guerineau, E.;
- Hubert, C.;
- Deves, S.;
- Pilliod, J.;
- Rooryck, C.;
- Abel, C.;
- Le Breton, F.;
- Collardeau‐Frachon, S.;
- Cordier, M.P.;
- Delezoide, A.L.;
- Goldenberg, A.;
- Loget, P.;
- Melki, J.;
- Odent, S.;
- Patrier, S.
Publication type:
Article
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25190-6
By:
- Boutin, J.;
- Rosier, J.;
- Cappellen, D.;
- Prat, F.;
- Toutain, J.;
- Pennamen, P.;
- Bouron, J.;
- Rooryck, C.;
- Merlio, J. P.;
- Lamrissi-Garcia, I.;
- Cullot, G.;
- Amintas, S.;
- Guyonnet-Duperat, V.;
- Ged, C.;
- Blouin, J. M.;
- Richard, E.;
- Dabernat, S.;
- Moreau-Gaudry, F.;
- Bedel, A.
Publication type:
Article
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2714, doi. 10.1002/ajmg.a.37212
By:
- Houcinat, N.;
- Llanas, B.;
- Moutton, S.;
- Toutain, J.;
- Cailley, D.;
- Arveiler, B.;
- Combe, C.;
- Lacombe, D.;
- Rooryck, C.
Publication type:
Article
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
Published in:
2019
By:
- El Khattabi, L. Allach;
- Brun, S.;
- Gueguen, P.;
- Chatron, N.;
- Guichoux, E.;
- Schutz, S.;
- Nectoux, J.;
- Sorlin, A.;
- Quere, M.;
- Boudjarane, J.;
- Tsatsaris, V.;
- Mandelbrot, L.;
- Schluth‐Bolard, C.;
- Dupont, J. M.;
- Rooryck, C.;
- Cormier, Alexandre;
- Ferec, Claude;
- Da Foncesca Pipoli, Juliana;
- Letourneur, Franck;
- Bonnet, Céline
Publication type:
journal article

Found: 7

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

Fetal phenotypes in otopalatodigital spectrum disorders.

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.