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Mark Nellist

Erasmus University Medical Center

42H指数
110论文数
1.0W被引数
收录论文 49
发表时间
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome长读长DNA和RNA测序揭示导致Treacher Collins综合征的TCOF1基因中一个内含子逆转座子插入。
err2025-09-27
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errFederico Ferraro; Nikolas Kühn; Dmitrijs Rots; Herma C. van der Linde; Banin Mohseni; Leontine van Unen; Mark Drost; Mark Nellist; Marieke Koekkoek; Rachel Schot; Henriette W. de Gier; Mieke Pleumeekers; Tahsin Stefan Barakat; Tjitske Kleefstra; Marjolein Weerts; Marieke F. van Dooren; Tjakko J. van Ham
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.常规基于RNA的分析潜在剪接变异体,促进了基因组诊断,并揭示了基于计算机预测工具的局限性。
err2025-09-22
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PREAI
errMark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
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Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
err2023-07-13
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errWest, Hannah D.; Nellist, Mark; Brouwer, Rutger W. W.; van den Hout-van Vroonhoven, Mirjam C. G. N.; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M.; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S.; Northrup, Hope; Sampson, Julian R.; Thomas, Laura E.; van IJcken, Wilfred F. J.
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Rheb Is Essential for Murine Development
err2023-03-20
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errGoorden, Susanna M. I.; Hoogeveen-Westerveld, Marianne; Cheng, Caroline; van Woerden, Geeske M.; Mozaffari, Melika; Post, Laura; Duckers, Henricus J.; Nellist, Mark; Elgersma, Ype
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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
err2023-02-15
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errDouben, Hannie; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Louwen, Jesse; Kroos-de Haan, Marian; Punt, Mattijs; van Ommeren, Babeth; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; van Bever, Yolande; van Vliet, Margreethe; Oostenbrink, Rianne; Saris, Jasper J.; Wagner, Anja; van Ierland, Yvette; van Ham, Tjakko; van Minkelen, Rick
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
err2023-02-01
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errDekker, Jordy; Schot, Rachel; Bongaerts, Michiel; Valk, Walter G. de; Veghel-Plandsoen, Monique M. van; Monfils, Kathryn; Douben, Hannie; Elfferich, Peter; Kasteleijn, Esmee; Unen, Leontine M. A. van; Geeven, Geert; Saris, Jasper J.; Ierland, Yvette van; Verheijen, Frans W.; Sterre, Marianne L. T. van der; Niaraki, Farah Sadeghi; Smits, Daphne J.; Huidekoper, Hidde H.; Williams, Monique; Wilke, Martina; Verhoeven, Virginie J. M.; Joosten, Marieke; Kievit, Anneke J. A.; Laar, Ingrid M. B. H. van de; Hoefsloot, Lies H.; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Mancini, Grazia M. S.; Ham, Tjakko J. van
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High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
err2022-11-08
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errDouben, Hannie C. W.; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen-Westerveld, Marianne; Louwen, Jesse; Van Veghel-Plandsoen, Monique; de Valk, Walter; Saris, Jasper J.; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H.; van Vliet, Margreethe; van Bever, Yolande; van de Laar, Ingrid; Aten, Emmelien; Lachmeijer, Augusta M. A.; Taal, Walter; van den Bersselaar, Lisa; Schuurmans, Juliette; Oostenbrink, Rianne; van Minkelen, Rick; van Ierland, Yvette; van Ham, Tjakko J.
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Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance与轻度TSC表型和非外显率相关的TSC2预测移码变异
err2022-03-01
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errFarach, Laura; Au, Kit-Sing; Nellist, Mark; Van Unen, Leontine; Klonowska, Katarzyna; Ekong, Rosemary; Crino, Peter; Northrup, Hope
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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
err2021-07-01
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errBesterman, Aaron D.; Althoff, Thorsten; Elfferich, Peter; Gutierrez-Mejia, Irma; Sadik, Joshua; Bernstein, Jonathan A.; van Ierland, Yvette; Kattentidt-Mouravieva, Anja A.; Nellist, Mark; Abramson, Jeff; Martinez-Agosto, Julian A.
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TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation
err2021-07-01
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errFitzian, Katharina; Bruckner, Anne; Brohee, Laura; Zech, Reinhard; Antoni, Claudia; Kiontke, Stephan; Gasper, Raphael; Matos, Anna Livia Linard; Beel, Stephanie; Wilhelm, Sabine; Gerke, Volker; Ungermann, Christian; Nellist, Mark; Raunser, Stefan; Demetriades, Constantinos; Oeckinghaus, Andrea; Kummel, Daniel
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Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
err2021-02-01
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errGiannikou, Krinio; Zhu, Zachary; Kim, Jaegil; Winden, Kellen D.; Tyburczy, Magdalena E.; Marron, David; Parker, Joel S.; Hebert, Zachary; Bongaarts, Anika; Taing, Len; Long, Henry W.; Pisano, William V.; Alexandrescu, Sanda; Godlewski, Brianna; Nellist, Mark; Kotulska, Katarzyna; Jozwiak, Sergiusz; Roszkowski, Marcin; Mandera, Marek; Thiele, Elizabeth A.; Lidov, Hart; Getz, Gad; Devinsky, Orrin; Lawrence, Michael S.; Ligon, Keith L.; Ellison, David W.; Sahin, Mustafa; Aronica, Eleonora; Meredith, David M.; Kwiatkowski, David J.
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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
err2020-06-18
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errRosengren, Thomas; Nanhoe, Santoesha; Dufner de Almeida, Luis Gustavo; Schonewolf-Greulich, Bitten; Larsen, Lasse Jonsgaard; Brunbjerg Hey, Caroline Amalie; Duno, Morten; Ek, Jakob; Risom, Lotte; Nellist, Mark; Moller, Lisbeth Birk
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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1
err2020-05-01
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errOttenhoff, Myrthe J.; Rietman, Andre B.; Mous, Sabine E.; Plasschaert, Ellen; Gawehns, Daniela; Brems, Hilde; Oostenbrink, Rianne; van Minkelen, Rick; Nellist, Mark; Schorry, Elizabeth; Legius, Eric; Moll, Henriette A.; Elgersma, Ype; de Wit, Marie-Claire Y.; de Nijs, Pieter F. A.; Legerstee, Jeroen S.; Dieleman, Gwendolyn C.; ten Hoopen, Leontine W.
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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings罕见TSC2变异的功能和结构特征与临床和遗传结果的比较
err2019-12-19
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errAlmeida, Luiz G. Dufner; Nanhoe, Santoesha; Zonta, Andrea; Hosseinzadeh, Mitra; Kom-Gortat, Regina; Elfferich, Peter; Schaaf, Gerben; Kenter, Annegien; Kuemmel, Daniel; Migone, Nicola; Povey, Sue; Ekong, Rosemary; Nellist, Mark
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Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus
err2018-04-09
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errMaroto, Pablo; Anguera, Georgia; Maria Roldan-Romero, Juan; Apellaniz-Ruiz, Maria; Algaba, Ferran; Boonman, Jacqueline; Nellist, Mark; Montero-Conde, Cristina; Cascon, Alberto; Robledo, Mercedes; Rodriguez-Antona, Cristina
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Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition
err2016-12-19
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errMateo, F.; Arenas, E. J.; Aguilar, H.; Serra-Musach, J.; de Garibay, G. Ruiz; Boni, J.; Maicas, M.; Du, S.; Iorio, F.; Herranz-Ors, C.; Islam, A.; Prado, X.; Llorente, A.; Petit, A.; Vidal, A.; Catala, I.; Soler, T.; Venturas, G.; Rojo-Sebastian, A.; Serra, H.; Cuadras, D.; Blanco, I.; Lozano, J.; Canals, F.; Sieuwerts, A. M.; de Weerd, V.; Look, M. P.; Puertas, S.; Garcia, N.; Perkins, A. S.; Bonifaci, N.; Skowron, M.; Gomez-Baldo, L.; Hernandez, V.; Martinez-Aranda, A.; Martinez-Iniesta, M.; Serrat, X.; Ceron, J.; Brunet, J.; Barretina, M. P.; Gil, M.; Falo, C.; Fernandez, A.; Morilla, I.; Pernas, S.; Pla, M. J.; Andreu, X.; Segui, M. A.; Ballester, R.; Castella, E.; Nellist, M.; Morales, S.; Valls, J.; Velasco, A.; Matias-Guiu, X.; Figueras, A.; Sanchez-Mut, J. V.; Sanchez-Cespedes, M.; Cordero, A.; Gomez-Miragaya, J.; Palomero, L.; Gomez, A.; Gajewski, T. F.; Cohen, E. E. W.; Jesiotr, M.; Bodnar, L.; Quintela-Fandino, M.; Lopez-Bigas, N.; Valdes-Mas, R.; Puente, X. S.; Vinals, F.; Casanovas, O.; Graupera, M.; Hernandez-Losa, J.; Ramon y Cajal, S.; Garcia-Alonso, L.; Saez-Rodriguez, J.; Esteller, M.; Sierra, A.; Martin-Martin, N.; Matheu, A.; Carracedo, A.; Gonzalez-Suarez, E.; Nanjundan, M.; Cortes, J.; Lazaro, C.; Odero, M. D.; Martens, J. W. M.; Moreno-Bueno, G.; Barcellos-Hoff, M. H.; Villanueva, A.; Gomis, R. R.; Pujana, M. A.
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Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin (vol 277, pg 35364, 2002)
err2016-10-01
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errDan, Han C.; Sun, Mei; Yang, Lin; Feldman, Richard I.; Sui, Xue-Mei; Ou, Chien Chen; Nellist, Mark; Yeung, Raymond S.; Halley, Dicky J. J.; Nicosia, Santo V.; Pledger, Warren J.; Cheng, Jin Q.
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Genotype and brain pathology phenotype in children with tuberous sclerosis complex
err2016-07-13
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errOverwater, Iris E.; Swenker, Rob; van der Ende, Emma L.; Hanemaayer, Kimberley B. M.; Hoogeveen-Westerveld, Marianne; van Eeghen, Agnies M.; Lequin, Maarten H.; van den Ouweland, Ans M. W.; Moll, Henriette A.; Nellist, Mark; de Wit, Marie-Claire Y.
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Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)
err2016-04-01
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errQin, Jiayue; Wang, Zhizhi; Hoogeveen-Westerveld, Marianne; Shen, Guobo; Gong, Weimin; Nellist, Mark; Xu, Wenqing
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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisTSC2外显子25和31内的变异不太可能导致临床上可诊断的结节性硬化症
err2016-01-12
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errEkong, Rosemary; Nellist, Mark; Hoogeveen-Westerveld, Marianne; Wentink, Marjolein; Panzer, Jessica; Sparagana, Steven; Emmett, Warren; Dawson, Natalie L.; Malinge, Marie Claire; Nabbout, Rima; Carbonara, Caterina; Barberis, Marco; Padovan, Sergio; Futema, Marta; Plagnol, Vincent; Humphries, Steve E.; Migone, Nicola; Povey, Sue
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