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Sascha Vermeer

university hospitals leuven

27H-index
83Paper Count
3.2KCitation Count
Published Papers 38
Publication Date
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES
err2026-05-06
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errCharlotte Matton; Julie Van De Velde; Marieke De Bruyne; Stijn Van De Sompele; Sally Hooghe; Hannes Syryn; Miriam Bauwens; Eva D′haene; Annelies Dheedene; Martine Cools; Shoko Komatsuzaki; Ewelina Preizner-Rzucidło; Alison Ross; Christine Armstrong; Wendy Watkins; Andrew Shelling; Andrea L. Vincent; Catherine Cassiman; Sascha Vermeer; David J. Bunyan; Hannah Verdin; Elfride De Baere
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Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum
err2025-10-01
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PREAI
errTheunis, Miel; van de Sompele, Stijn; Jacob, Julie; Vermeer, Sascha; Van Aerschot, Joseph
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
err2025-04-01
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errKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
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PHARC syndrome: an overview (vol 19, 416, 2024)
err2025-01-08
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errHarutyunyan, Lusine; Callaerts, Patrick; Vermeer, Sascha
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PHARC syndrome: an overview
err2024-11-05
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errHarutyunyan, Lusine; Callaerts, Patrick; Vermeer, Sascha
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Intrafamilial Correlation and Variability in the Clinical Evolution of Pulmonary Fibrosis
errCHEST
IF8.6
err2023-12-01
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errGoos, Tinne; Dubbeldam, Adriana; Vermant, Marie; Gogaert, Stefan; De Sadeleer, Laurens J.; De Crem, Nico; De Langhe, Ellen; Yserbyt, Jonas; Weynand, Birgit; Carlon, Marianne S.; Verschakelen, Johny; Vermeer, Sascha; Verleden, Stijn E.; Wuyts, Wim A.
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Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
err2023-10-27
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PREAI
errGoos, Tinne; Veyt, Nathalie; Van Hoof, Evelien; Rosier, Karen; Gogaert, Stefan; Vermant, Marie; Willems, Lynn; Staels, Frederik; Van Raemdonck, Ilse; Thierie, Sam; Cortesi, Emanuela Elsa; De Sadeleer, Laurens J.; Yserbyt, Jonas; De Crem, Nico; Jacob, Joseph; Carlon, Marianne S.; Verschakelen, Johny; Dubbeldam, Adriana; Corveleyn, Anniek; Verleden, Stijn E.; Vermeer, Sascha; Wuyts, Wim A.
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
err2023-04-01
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errReurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
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Family history of ILD predicts pulmonary function decline in IPF patients
err2022-12-01
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PREAI
errGoos, T.; Vermant, M.; De Sadeleer, L. J.; Verstraete, K.; De Crem, N.; De langhe, E.; Dubbeldam, A.; Verbeken, E. K.; Verschakelen, J.; Weynand, B.; Yserbyt, J.; Vermeer, S.; Verleden, S. E.; Wuyts, W. A.
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Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation
err2022-01-03
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errBos, Saskia; Daniels, Liesbeth; Michaux, Lucienne; Vanden Bempt, Isabelle; Vermeer, Sascha; Woei-A-Jin, F. J. Sherida H.; Schoffski, Patrick; Weynand, Birgit; Sciot, Raf; Declercq, Sabine; Ceulemans, Laurens J.; Godinas, Laurent; Verleden, Geert M.; Van Raemdonck, Dirk E.; Dupont, Lieven J.; Vos, Robin
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Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia
err2020-07-30
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errVan Daele, Sien Hilde; Vermeer, Sascha; Van Eesbeeck, Amelie; Lannoo, Laura; Race, Valerie; van Damme, Philip; Claeys, Kristl; Vandenberghe, Wim
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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders (vol 24, pg 1460, 2016)
err2017-02-09
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errvan de Warrenburg, Bart P.; Schouten, Meyke I.; de Bot, Susanne T.; Vermeer, Sascha; Meijer, Rowdy; Pennings, Maartje; Gilissen, Christian; Willemsen, Michel A. A. P.; Scheffer, Hans; Kamsteeg, Erik-Jan
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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
err2016-06-10
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errBradshaw, Teisha Y.; Romano, Lisa E. L.; Duncan, Emma J.; Nethisinghe, Suran; Abeti, Rosella; Michael, Gregory J.; Giunti, Paola; Vermeer, Sascha; Chapple, J. Paul
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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders
err2016-05-11
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errDe Warrenburg, Bart P. van; Schouten, Meyke I.; de Bot, Susanne T.; Vermeer, Sascha; Meijer, Rowdy; Pennings, Maartje; Gilissen, Christian; Willemsen, Michel A. A. P.; Scheffer, Hans; Kamsteeg, Erik-Jan
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Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)
err2015-08-13
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errOckeloen, Charlotte W.; Willemsen, Marjolein H.; de Munnik, Sonja; van Bon, Bregje W. M.; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; van Loon, Rosa L. E.; Smeets, Eric E. J.; van Haelst, Mieke M.; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J. J.; van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E. L.; Kleefstra, Tjitske
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
err2015-08-01
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errBlok, Lot Snijders; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R. F.; Venselaar, Hanka; Helsmoorte, Celine; Cho, Megan T.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Koemans, Tom S.; Wissink-Lindhout, Willemijn; Eichler, Evan E.; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Obemdorff, Karin; van Bon, Bregje W. M.; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L.; Van Diick, Anke; Innes, A. Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J.; Henderson, Alex; Lynch, Sally A.; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; Van Gassen, Koen L. I.; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L.; Pediaditakis, Igor; Haas, Stefan A.; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G.; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C.; Stein, Quinn; Strauss, Kevin A.; Brigatti, Karlla W.; Keating, Katherine; Burton, Barbara K.; Kim, Katherine H.; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D.; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M.; van Roozendaal, Kees; Brunner, Han; Chung, Wendy K.; Kooy, R. Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G.; Katsanis, Nicholas; Kleefstra, Tjitske
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
err2014-11-26
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errOckeloen, Charlotte W.; Willemsen, Marjolein H.; de Munnik, Sonja; van Bon, Bregje W. M.; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; van Loon, Rosa L. E.; Smeets, Eric E. J.; van Haelst, Mieke M.; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J. J.; van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E. L.; Kleefstra, Tjitske
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
err2013-10-18
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errNeveling, Kornelia; Feenstra, Ilse; Gilissen, Christian; Hoefsloot, Lies H.; Kamsteeg, Erik-Jan; Mensenkamp, Arjen R.; Rodenburg, Richard J. T.; Yntema, Helger G.; Spruijt, Liesbeth; Vermeer, Sascha; Rinne, Tuula; van Gassen, Koen L.; Bodmer, Danielle; Lugtenberg, Dorien; de Reuver, Rick; Buijsman, Wendy; Derks, Ronny C.; Wieskamp, Nienke; van den Heuvel, Bert; Ligtenberg, Marjolijn J. L.; Kremer, Hannie; Koolen, David A.; van de Warrenburg, Bart P. C.; Cremers, Frans P. M.; Marcelis, Carlo L. M.; Smeitink, Jan A. M.; Wortmann, Saskia B.; van Zelst-Stams, Wendy A. G.; Veltman, Joris A.; Brunner, Han G.; Scheffer, Hans; Nelen, Marcel R.
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A De Novo SCA14 Mutation in an Isolated Case of Late-Onset Cerebellar Ataxia
err2013-07-12
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errvan Gaalen, Judith; Vermeer, Sascha; van Veluw, Marjon; van de Warrenburg, Bart P. C.; Dooijes, Dennis
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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
err2013-06-01
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errNeveling, Kornelia; Martinez-Carrera, Lilian A.; Hoelker, Irmgard; Heister, Angelien; Verrips, Aad; Hosseini-Barkooie, Seyyed Mohsen; Gilissen, Christian; Vermeer, Sascha; Pennings, Maartje; Meijer, Rowdy; te Riele, Margot; Frijns, Catharina J. M.; Suchowersky, Oksana; MacLaren, Linda; Rudnik-Schoeneborn, Sabine; Sinke, Richard J.; Zerres, Klaus; Lowry, R. Brian; Lemmink, Henny H.; Garbes, Lutz; Veltman, Joris A.; Schelhaas, Helenius J.; Scheffer, Hans; Wirth, Brunhilde
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