SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

por Santen, Gijs W.E., Kriek, Marjolein, van Attikum, Haico
Publicado 2012

Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases

por Santen, Gijs W. E., Leitch, Harry G., Cobben, Jan
Publicado 2022

A functional assay to classify ZBTB24 missense variants of unknown significance

por Wu, Haoyu, Vonk, Kelly K. D., van der Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia
Publicado 2019

Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

por Elhaji, Youssef, van Henten, Tessa M.A., Ruivenkamp, Claudia A.L., Nightingale, Mathew, Santen, Gijs WE, Vos, Lydia E., Hull, Peter R.
Publicado 2021

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

por Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Publicado 2019

Population pharmacokinetics of clonazepam in saliva and plasma: Steps towards noninvasive pharmacokinetic studies in vulnerable populations

por Kruizinga, Matthijs D., Zuiker, Rob G. J. A., Bergmann, Kirsten R., Egas, Annelies C., Cohen, Adam F., Santen, Gijs W. E., van Esdonk, Michiel J.
Publicado 2021

Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B

por Kruizinga, Matthijs D., Zuiker, Rob G.J.A., Sali, Elif, de Kam, Marieke L., Doll, Robert J., Groeneveld, Geert Jan, Santen, Gijs W.E., Cohen, Adam F.
Publicado 2020

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

por Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J. V., Zwanenburg, Fleur, Haak, Monique C., Locher, Heiko, van Beelen, Edward S. A., Santen, Gijs W. E., Rotteveel, Liselotte J. C.
Publicado 2022

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

por Valencia, Alfredo M., Sankar, Akshay, van der Sluijs, Pleuntje J., Satterstrom, F. Kyle, Fu, Jack, Talkowski, Michael E., Vergano, Samantha A. Schrier, Santen, Gijs W. E., Kadoch, Cigall
Publicado 2023

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

por de Graaf, Michael, Kant, Sarina G, Wit, Jan Maarten, Redeker, Egbert Johan Willem, Santen, Gijs Willem Eduard, Verkerk, Annemieke Johanna Maria Henriëtta, Uitterlinden, André Gerardus, Losekoot, Monique, Oostdijk, Wilma
Publicado 2017

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

por Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, de Vries, Linda S., van Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.
Publicado 2020

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics

por van der Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.
Publicado 2019

Exome sequencing in families with chronic central serous chorioretinopathy

por Schellevis, Rosa L., van Dijk, Elon H. C., Breukink, Myrte B., Keunen, Jan E. E., Santen, Gijs W. E., Hoyng, Carel B., de Jong, Eiko K., Boon, Camiel J. F., den Hollander, Anneke I.
Publicado 2019

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

por Pagliaroli, Luca, Porazzi, Patrizia, Curtis, Alyxandra T., Scopa, Chiara, Mikkers, Harald M. M., Freund, Christian, Daxinger, Lucia, Deliard, Sandra, Welsh, Sarah A., Offley, Sarah, Ott, Connor A., Calabretta, Bruno, Brugmann, Samantha A., Santen, Gijs W. E., Trizzino, Marco
Publicado 2021

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study

por Atmar, Khaled, Ruivenkamp, Claudia A. L., Hooimeijer, Louise, Nibbeling, Esther A. R., Eckhardt, Corien L., Huisman, Elise J., Lankester, Arjan C., Bartels, Marije, Santen, Gijs W. E., Smiers, Frans J., van der Burg, Mirjam, Mohseny, Alexander B.
Publicado 2022

Prenatal exome sequencing: A useful tool for the fetal neurologist

por de Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.
Publicado 2021

Skewed X-inactivation is common in the general female population

por Shvetsova, Ekaterina, Sofronova, Alina, Monajemi, Ramin, Gagalova, Kristina, Draisma, Harmen H. M., White, Stefan J., Santen, Gijs W. E., Chuva de Sousa Lopes, Susana M., Heijmans, Bastiaan T., van Meurs, Joyce, Jansen, Rick, Franke, Lude, Kiełbasa, Szymon M., den Dunnen, Johan T., ‘t Hoen, Peter A. C.
Publicado 2018

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

por van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Publicado 2020

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

por Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke
Publicado 2015

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

por Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco
Publicado 2020