Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diag...

by Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wemeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau, Agnès Daudignon
Published 2017-07-01

A Novel Rare Missense Variation of the <i>NOD2</i> Gene: Evidences of Implication in Crohn’s Disease

by Sara Frade-Proud’Hon-Clerc, Thomas Smol, Frédéric Frenois, Olivier Sand, Emmanuel Vaillant, Véronique Dhennin, Amélie Bonnefond, Philippe Froguel, Mathurin Fumery, Nathalie Guillon-Dellac, Corinne Gower-Rousseau, Francis Vasseur
Published 2019-02-01

A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

by Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
Published 2021-08-01