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Gijs van Haaften

centre national de la recherche scientifique (cnrs)

45H-index
117Paper Count
6.5KCitation Count
Published Papers 60
Publication Date
Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)
err2025-04-01
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errCiapaite, Jolita; Albersen, Monique; Savelberg, Sanne M. C.; Bosma, Marjolein; Meijer, Nils W. F.; Tessadori, Federico; Bakkers, Jeroen P. W.; van Haaften, Gijs; Jans, Judith J.; Verhoeven-Duif, Nanda M.
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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
err2025-03-01
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errZwartkruis, Maria M.; de Pagter, Mirjam S.; Gommers, Demi; Koopmans, Marije; Ottenheim, Cecile P. E.; Kortooms, Joris, V; Albring, Mirjan; Elferink, Martin G.; Wadman, Renske, I; Asselman, Fay-Lynn; Cuppen, Inge; van der Pol, W. Ludo; Nelen, Marcel R.; van Haaften, Gijs W.; Groen, Ewout J. N.
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
errBRAIN
IF11.7
err2024-01-13
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errEfthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L.; Liang, Robin A.; Abdel-Hamid, Mohamed S.; Sultan, Tipu; Baroy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S.; Zaki, Maha S.; Severino, Mariasavina; Duru, Kingsley C.; Tryon, Robert C.; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M.; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Eric; Nichols, Colin G.; Smeland, Marie F.; Mcclenaghan, Conor
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
err2024-01-02
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errLi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
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ABL-class Genomic Breakpoint Q-PCR: A Patient-specific Approach for MRD Monitoring in Acute Lymphoblastic Leukemia
err2023-10-01
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errvan Outersterp, Inge; van der Velden, Vincent H. J.; Hoogeveen, Patricia G.; Vaitkeviciene, Goda E.; Sonneveld, Edwin; van Haaften, Gijs; Kuiper, Roland P.; zur Stadt, Udo; Escherich, Gabriele; Boer, Judith M.; den Boer, Monique L.
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CRISPR-Cas9 enrichment, a new strategy in microbial metagenomics to investigate complex genomic regions: The case of an environmental integron
err2023-04-17
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errSandoval-Quintana, Eva; Stangl, Christina; Huang, Lionel; Renkens, Ivo; Duran, Robert; van Haaften, Gijs; Monroe, Glen; Lauga, Beatrice; Cagnon, Christine
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Histones: coming of age in Mendelian genetic disorders
err2023-01-23
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PREAI
errKnapp, Karen; Naik, Nihar; Ray, Sankalita; van Haaften, Gijs; Bicknell, Louise S.
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Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
err2022-11-07
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errGao, Jian; McClenaghan, Conor; Christiaans, Imke; Alders, Marielle; van Duinen, Kirsten; van Haelst, Mieke M.; van Haaften, Gijs; Nichols, Colin G.
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
err2022-04-01
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errTessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay
err2021-10-26
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errMuffels, Irena J. J.; Wiame, Elsa; Fuchs, Sabine A.; Massink, Maarten P. G.; Rehmann, Holger; Musch, Jiska L., I; Van Haaften, Gijs; Vertommen, Didier; van Schaftingen, Emile; van Hasselt, Peter M.
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Drug Repurposing for Rare Diseases
err2021-04-01
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errRoessler, Helen, I; Knoers, Nine V. A. M.; van Haelst, Mieke M.; van Haaften, Gijs
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New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
err2021-03-19
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errWillemse, Brigitte W. M.; van der Crabben, Saskia N.; Kerstjens-Frederikse, Wilhelmina S.; Timens, Wim; van Montfrans, Joris M.; Lindemans, Caroline A.; Boelens, Jaap Jan; Hennus, Marije P.; van Haaften, Gijs
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Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing
err2020-06-05
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errStangl, Christina; de Blank, Sam; Renkens, Ivo; Westera, Liset; Verbeek, Tamara; Valle-Inclan, Jose Espejo; Gonzalez, Rocio Chamorro; Henssen, Anton G.; van Roosmalen, Markus J.; Stam, Ronald W.; Voest, Emile E.; Kloosterman, Wigard P.; van Haaften, Gijs; Monroe, Glen R.
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Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity Conor
err2020-02-17
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errMcClenaghan, Conor; Huang, Yan; Yan, Zihan; Harter, Theresa M.; Halabi, Carmen M.; Chalk, Rod; Kovacs, Attila; van Haaften, Gijs; Remedi, Maria S.; Nichols, Colin G.
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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
err2019-12-05
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errTessadori, Federico; Rehman, Atteeq U.; Giltay, Jacques C.; Xia, Fan; Streff, Haley; Duran, Karen; Bakkers, Jeroen; Lalani, Seema R.; van Haaften, Gijs
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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
err2019-10-01
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errSmeland, Marie F.; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Asmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Mueller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs
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Identification of human D lactate dehydrogenase deficiency
err2019-04-01
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errMonroe, Glen R.; van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; van Alfen, Johanna C.; Terhal, Paulien A.; van der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; van Roosmalen, Markus J.; van Gassen, Koen L.; van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; de Koning, Tom J.; Cali, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine, V; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; van Haaften, Gijs; Jans, Judith J.
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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
err2019-04-01
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errGregory, Louise C.; Ferreira, Carolina B.; Young-Baird, Sara K.; Williams, Hywel J.; Harakalova, Magdalena; van Haaften, Gijs; Rahman, Sofia A.; Gaston-Massuet, Carles; Kelberman, Daniel; GOSgene; Qasim, Waseem; Camper, Sally A.; Dever, Thomas E.; Shah, Pratik; Robinson, Iain C. A. F.; Dattani, Mehul T.
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Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
err2018-10-18
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errTessadori, Federico; Roessler, Helen I.; Savelberg, Sanne M. C.; Chocron, Sonja; Kamel, Sarah M.; Duran, Karen J.; van Haelst, Mieke M.; van Haaften, Gijs; Bakkers, Jeroen
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