Publications by authors named "Sara Ruiz Gil"

4Publications

The order and logic of CD4 versus CD8 lineage choice and differentiation in mouse thymus.

Authors:
Mohammad M Karimi Ya Guo Xiaokai Cui Husayn A Pallikonda Veronika Horková Yi-Fang Wang Sara Ruiz Gil Gustavo Rodriguez-Esteban Irene Robles-Rebollo Ludovica Bruno Radina Georgieva Bhavik Patel James Elliott Marian H Dore Danielle Dauphars Michael S Krangel Boris Lenhard Holger Heyn Amanda G Fisher Ondřej Štěpánek Matthias Merkenschlager

Nat Commun 2021 01 4;12(1):99. Epub 2021 Jan 4.

MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.

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January 2021

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

Authors:
Ilaria Parenti Farah Diab Sara Ruiz Gil Eskeatnaf Mulugeta Valentina Casa Riccardo Berutti Rutger W W Brouwer Valerie Dupé Juliane Eckhold Elisabeth Graf Beatriz Puisac Feliciano Ramos Thomas Schwarzmayr Macarena Moronta Gines Thomas van Staveren Wilfred F J van IJcken Tim M Strom Juan Pié Erwan Watrin Frank J Kaiser Kerstin S Wendt

Cell Rep 2020 05;31(7):107647

Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

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May 2020

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Authors:
Jelena Pozojevic Ilaria Parenti Luitgard Graul-Neumann Sara Ruiz Gil Erwan Watrin Kerstin S Wendt Ralf Werner Tim M Strom Gabriele Gillessen-Kaesbach Frank J Kaiser

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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November 2018

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Authors:
Ilaria Parenti María E Teresa-Rodrigo Jelena Pozojevic Sara Ruiz Gil Ingrid Bader Diana Braunholz Nuria C Bramswig Cristina Gervasini Lidia Larizza Lutz Pfeiffer Ferda Ozkinay Feliciano Ramos Benedikt Reiz Olaf Rittinger Tim M Strom Erwan Watrin Kerstin Wendt Dagmar Wieczorek Bernd Wollnik Carolina Baquero-Montoya Juan Pié Matthew A Deardorff Gabriele Gillessen-Kaesbach Frank J Kaiser

Hum Genet 2017 03 24;136(3):307-320. Epub 2017 Jan 24.

Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.

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March 2017