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Lies H. Hoefsloot

Erasmus MC University Medical Center

61H指数
199论文数
1.2W被引数
收录论文 84
发表时间
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaU4和U6 snRNA基因的新生和遗传显性变异导致色素性视网膜炎
err2026-01-09
err0
errOAAI
errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingNanopore长读长测序技术应用于危重患者,可促进超快速诊断和紧急临床决策制定。
err2025-10-20
err0
errOAAI
errDaphne J. Smits; Federico Ferraro; Mark Drost; Herma C. van der Linde; Bianca M. de Graaf; Yolande van Bever; Alice S. Brooks; Livija Bardina; Hennie T. Brüggenwirth; Christophe Debuy; Laura Donker Kaat; Bastiaan T. van Dijk; Nienke van Engelen; Geert Geeven; Raoul van de Graaf; Désirée Y. van Haaften-Visser; Peter M. van Hasselt; Daphne Heijsman; Yvonne M. C. Hendriks; Rebekkah J. Hitti-Malin; Lies H. Hoefsloot; Glenn Huijbregts; Hanna IJspeert; Sander Lamballais; Jona Mijalkovic; Merel O. Mol; Diënna Nawawi; Nadine Nederpelt; Esther A. R. Nibbeling; Wouter te Rijdt; Rachel Schot; Marjon van Slegtenhorst; Frank Sleutels; Eva L. M. Ulenkate; Monique Van Veghel – Plandsoen; Judith M. A. Verhagen; David Vos; Erwin Wauters; Martina Wilke; Marc Sylva; Tahsin Stefan Barakat; Tjakko J. van Ham; Tjitske Kleefstra; Dmitrijs Rots; Virginie J. M. Verhoeven
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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
err0
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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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDNA甲基化特征在神经发育障碍常规诊断中的临床应用
err2025-07-29
err0
PREAI
errDaphne J. Smits; Christophe Debuy; Alice S. Brooks; Rachel Schot; Federico Ferraro; Dmitrijs Rots; Arjan Bouman; Virginie J. M. Verhoeven; Laura Donker Kaat; Sarina G. Kant; Yolande van Bever; Serwet Demirdas; Shimriet Zeidler; Marieke F. van Dooren; Stephany H. Donze; Lies H. Hoefsloot; Marjon A. van Slegtenhorst; Martina Wilke; Frank Sleutels; Mark Drost; Hennie T. Brüggenwirth; Rick van Minkelen; Anne Goverde; Janna A. Hol; Ingrid M. B. H. van de Laar; Yvette van Ierland; Anneke Kievit; Vyne van der Schoot; Kyra E. Stuurman; Grazia M. S. Mancini; Marja W. Wessels; Tjakko J. van Ham; Tjitske Kleefstra; Tahsin Stefan Barakat
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Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
err2024-11-11
err0
errOAAI
errGhasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M.
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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases在一大批听力受损人群中,外显子组变体优先排序表明IKZF2与非综合征性听力损失有关,并指导未解决病例的未来研究
err2024-10-16
err1
errOAAI
errVelde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, Helger G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; Pennings, Ronald J. E.; Kremer, Hannie
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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
err2024-08-29
err1
errOAAI
errHeutinck, Pam A. T.; van den Born, L. Ingeborgh; Vermeer, Maikel; Gonzales, Adriana I. Iglesias; Hoyng, Carel B.; Pott, Jan Willem R.; Kroes, Hester Y.; van Schooneveld, Mary J.; Boon, Camiel J. F.; van Genderen, Maria M.; Plomp, Astrid S.; de Jong-Hesse, Yvonne; van Egmond-Ebbeling, Michelle B.; Hoefsloot, Lies H.; Bergen, Arthur A.; Klaver, Caroline C. W.; Meester-Smoor, Magda A.; Thiadens, Alberta A. H. J.; Verhoeven, Virginie J. M.
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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
err2024-04-30
err1
errOAAI
errColbert, Brett M.; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M.; Tang, Pei-Ciao; Getchell, Richard L.; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thade; van de Kamp, Jiddeke; Free, Rolien H.; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H. W.; Aten, E.; Widdershoven, J. C. C.; Hof, J. R.; Hellingman, K.; Vernimmen, V.; Kremer, H.; Pennings, R. J. E.; Feenstra, I.; Lanting, C. P.; Yntema, H. G.; Cals, F. L. J.; Haer-Wigman, L.; Free, R. H.; Wassink-Ruiter, J. S. Klein; Smit, A. L.; van den Boogaard, M. J.; Lachmeier, A. M. A.; Smits, J. J.; Ebbens, F. A.; Maas, S. M.; Plomp, A.; Goderie, T. P. M.; Merkus, P.; van de Kamp, J.; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J. H.; Pennings, Ronald; Liu, Xue Zhong
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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
err2023-12-01
err2
errOAAI
errHaarman, Annechien E. G.; Klaver, Caroline C. W.; Tedja, Milly S.; Roosing, Susanne; Astuti, Galuh; Gilissen, Christian; Hoefsloot, Lies H.; van Tienhoven, Marianne; Brands, Tom; Magielsen, Frank J.; Eussen, Bert H. J. F. M. M.; de Klein, Annelies; Brosens, Erwin; Verhoeven, Virginie J. M.
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
err2023-04-29
err10
errOAAI
errDeng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kuhn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Luetjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
err2023-02-01
err21
errOAAI
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
err9
errOAAI
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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Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing
err2022-11-01
err8
errOAAI
errChavli, Effrosyni; Born, Myrthe van den; Eleveld, Cindy; Boter, Marjan; van Marion, Ronald; Hoefsloot, Lies; Laven, Joop; Baart, Esther; Van Opstal, Diane
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia
err2022-05-14
err22
errOAAI
errHaarman, Annechien E. G.; Thiadens, Alberta A. H. J.; van Tienhoven, Marianne; Loudon, Sjoukje E.; de Klein, J. E. M. M. Annelies; Brosens, Erwin; Polling, Jan Roelof; van der Schoot, Vyne; Bouman, Arjan; Kievit, Anneke J. A.; Hoefsloot, Lies H.; Klaver, Caroline C. W.; Verhoeven, Virginie J. M.
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Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
err2022-01-19
err16
errOAAI
errvan Mazijk, Ralph; Haarman, Annechien E. G.; Hoefsloot, Lies H.; Polling, Jan R.; van Tienhoven, Marianne; Klaver, Caroline C. W.; Verhoeven, Virginie J. M.; Loudon, Sjoukje E.; Thiadens, Alberta A. H. J.; Kievit, Anneke J. A.
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Noninvasive Prenatal Testing as Compared to Chorionic Villus Sampling Is More Sensitive for the Detection of Confined Placental Mosaicism Involving the Cytotrophoblast
err2021-02-01
err0
errOAAI
errVan Opstal, Diane; Eggenhuizen, Geerke M.; Joosten, Marieke; Diderich, Karin; Govaerts, Lutgarde; Galjaard, Robert-Jan; Go, Attie; Knapen, Maarten; Boter, Marjan; Cheung, Wai Y.; van Koetsveld, Nicole; van Veen, Stefanie; de Valk, Walter G.; Jehee, Fernanda; de Vries, Femke; Hollink, Iris; Hoefsloot, Lies; Srebniak, Malgorzata
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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies在合并胎儿超声异常的妊娠中,全外显子组测序的潜在诊断率
err2020-12-28
err28
errOAAI
errDiderich, Karin E. M.; Romijn, Kathleen; Joosten, Marieke; Govaerts, Lutgarde C. P.; Polak, Marike; Bruggenwirth, Hennie T.; Wilke, Martina; van Slegtenhorst, Marjon A.; van Bever, Yolande; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; Kromosoeto, Joan N. R.; Knapen, Maarten F. C. M.; Go, Attie T. J., I; Van Opstal, Diane; Hoefsloot, Lies H.; Galjaard, Robert-Jan H.; Srebniak, Malgorzata, I
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Paranoid schizophrenia in kallmann syndrome: genetics and psychopathology
err2020-04-15
err0
PREAI
errVerhoeven, W.; Egger, J.; Onderwater, T.; Hovens, J.; De Leeuw, N.; Hoefsloot, L.
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
err2019-02-08
err11
errOAAI
errLabrijn-Marks, Ineke; Somers-Bolman, Galhana M.; Groen, Stijn L. M. In't; Hoogeveen-Westerveld, Marianne; Kroos, Marian A.; Ala-Mello, Sirpa; Amaral, Olga; Miranda, Clara Sa; Mavridou, Irene; Michelakakis, Helen; Naess, Karin; Verheijen, Frans W.; Hoefsloot, Lies H.; Dijkhuizen, Trijnie; Benjamins, Marloes; van den Hout, Hannerieke J. M.; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim; Saris, Jasper J.; Halley, Dicky J.
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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionLMX1A的杂合错义变体导致非综合征性听力障碍和前庭功能障碍
err2018-05-12
err29
errOAAI
errWesdorp, Mieke; Gans, Pia A. M. de Koning; Schraders, Margit; Oostrik, Jaap; Huynen, Martijn A.; Venselaar, Hanka; Beynon, Andy J.; van Gaalen, Judith; Piai, Vitoria; Voermans, Nicol; van Rossum, Michelle M.; Hartel, Bas P.; Lelieveld, Stefan H.; Wiel, Laurens; Verbist, Berit; Rotteveel, Liselotte J.; van Dooren, Marieke F.; Lichtner, Peter; Kunst, Henricus P. M.; Feenstra, Ilse; Admiraal, Ronald J. C.; Yntema, Helger G.; Hoefsloot, Lies H.; Pennings, Ronald J. E.; Kremer, Hannie
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