Publications

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J
PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6
Erratum in: PLoS Genet. 2013 Jun;9(6): doi/10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe

A tool for RNA sequencing sample identity check

Huang J, Chen J, Lathrop M, Liang L
Bioinformatics. 2013 Jun 1;29(11):1463-4. doi: 10.1093/bioinformatics/btt155. Epub 2013 Apr 4

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

G Nicolas, C Charbonnier, D Wallon, O Quenez2, C Bellenguez, B Grenier-Boley, S Rousseau, A-C Richard,
A Rovelet-Lecrux, K Le Guennec, D Bacq, J-G Garnier, R Olaso, A Boland, V Meyer, J-F Deleuze, P Amouyel, HM Munter,
G Bourque, M Lathrop, T Frebourg, R Redon, L Letenneur, J-F Dartigues, E Génin, J-C Lambert, D Hannequin,
D Campion and The CNR-MAJ collaborators

Molecular Psychiatry (2015), 1–6

Nicotine consumption is regulated by a human polymorphism in dopamine neurons

Morel C, Fattore L, Pons S, Hay YA, Marti F, Lambolez B, De Biasi M, Lathrop M, 
Fratta W, Maskos U, Faure P.
2014 Aug;19(8):930-6. doi: 10.1038/mp.2013.158. Epub 2013 Dec 3. (August 2014).

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD
Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26

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