Bibliotecas PUC-SP - Busca Integrada

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

за авторством Joery den Hoed, Fleur Semmekrot, Jolijn Verseput, Alexander J.M. Dingemans, Dick Schijven, Clyde Francks, Yuri A. Zarate, Simon E. Fisher
Опубліковано в: HGG Advances (2026-01-01)

The Impact of Manuscript Learning vs. Video Learning on a Surgeon's Confidence in Performing a Difficult Procedure

за авторством Carlos A. Reck-Burneo, Carlos A. Reck-Burneo, Alexander J. M. Dingemans, Victoria A. Lane, Jennifer Cooper, Marc A. Levitt, Richard J. Wood
Опубліковано в: Frontiers in Surgery (2018-11-01)

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study

за авторством Claudio Peter D’Incal, Anke Van Dijck, Dale John Annear, Lusine Harutyunyan, Ellen Elinck, Alexander J. M. Dingemans, Bert B. A. de Vries, Ligia Mateiu, Marije Meuwissen, Anna C. Jansen, R. Frank Kooy
Опубліковано в: Clinical Epigenetics (2025-11-01)

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

за авторством 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
Опубліковано в: Genes (2021-08-01)

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesResearch in context

за авторством Leonardo Chimirri, J. Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen, Daniel Danis, Alexander J.M. Dingemans, Klara Gehle, Petra Gehle, Adam S.L. Graefe, Weihong Gu, Markus S. Ladewig, Pablo Lapunzina, Julián Nevado, Enock Niyonkuru, Soichi Ogishima, Dominik Seelow, Jair A. Tenorio Castaño, Marek Turnovec, Bert B.A. de Vries, Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca, Melissa A. Haendel, Christopher J. Mungall, Justin Reese, Peter N. Robinson
Опубліковано в: EBioMedicine (2025-11-01)

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

за авторством Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden, Gökberk Alagöz, Michael S. Hildebrand, Alexander J. M. Dingemans, Jean Corbally, Joery den Hoed, Ezequiel Mendoza, Willemijn J. J. Claassen, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert B. A. de Vries, Frances Elmslie, Giovanni Battista Ferrero, Nadieh A. Jansen, Ingrid M. B. H. van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E. Scheffer, Fabio Sirchia, Samantha J. Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K. Chung, Marion Gerard, Vanesa López-González, Elizabeth Palmer, Angela T. Morgan, Bregje W. van Bon, Simon E. Fisher
Опубліковано в: Nature Communications (2025-10-01)

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

за авторством Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Опубліковано в: Translational Psychiatry (2022-10-01)