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Quinten Waisfisz

department of human genetics

57H-index
227Paper Count
1.8WCitation Count
Published Papers 100
Publication Date
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome
err2026-07-20
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errOAAI
errHaley McConkey; Liselot van der Laan; Sourav Ghosh; Lotte Kleinendorst; Michael A. Levy; Jessica Rzasa; Johanna M. van Hagen; Quinten Waisfisz; Heidi L. Schulz; Corina Heller; Kerstin Huhn; Carolin D. Obermaier; Konrad Platzer; Rami Abou Jamra; Nikos Marinakis; Danai Veltra; Konstantina Kosma; Christalena Sofocleous; Peter Henneman; Bekim Sadikovic; Mieke M. van Haelst
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A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
err2026-03-01
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errOAAI
errBisseling, Quinty; Parker, Mark D.; Kerst, Sven; Pasternack, Richard A.; Tondreau, Jacob; Breur, Marjolein; van Rooijen-van Leeuwen, Gemma M.; Tonduti, Davide; Salsano, Ettore; Darling, Alejandra; van Wijk, Joanna A. E.; Tornroth-Horsefield, Susanna; Bugiani, Marianna; Pouwels, Petra J. W.; Waisfisz, Quinten; van der Knaap, Marjo S.; Min, Rogier
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Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
err2025-11-21
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errJana M. de Vries; Arda Arduç; Quinten Waisfisz; Maria B. Tan – Sindhunata; Brigitte HW Faas; Elisabeth van Leeuwen; Ingeborg H. Linskens; Eva Pajkrt
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Perinatal genetic diagnostic yield in a population of fetuses with the phenotype arthrogryposis multiplex congenita: a cohort study 2007-2021
err2025-04-01
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errOAAI
errArduc, Arda; De Vries, Johanna I. P.; Tan-Sindhunata, Maria B.; Waisfisz, Quinten; Pajkrt, Eva; Linskens, Ingeborg H.
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DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review
err2025-03-01
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errOAAI
errKennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cecile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Blok, Lot Snijders
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017)
err2025-02-06
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PREAI
errBal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma
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Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
errBRAIN
IF11.7
err2024-03-15
err2
PREAI
errBergner, Caroline G.; Breur, Marjolein; Soto-Bernardini, M. Clara; Schaefer, Lisa; Lier, Julia; Le Duc, Diana; Bundalian, Linnaeus; Schubert, Susanna; Brenner, David; Kreuz, Friedmar R.; Schulte, Bjoern; Waisfisz, Quinten; Bugiani, Marianna; Koehler, Wolfgang; Sticht, Heinrich; Abou Jamra, Rami; van der Knaap, Marjo S.
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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
err2024-03-01
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errOAAI
errvan der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; Mcconkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A.; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K.; Li, Dong; Vissers, Lisenka E. L. M.; Dingemans, Alexander J. M.; Valenzuela, Irene; Verberne, Eline A.; Misra-Isrie, Mala; Zwijnenburg, Petra J. G.; Waisfisz, Quinten; Alders, Marielle; Sailer, Sebastian; Schaaf, Christian P.; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
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Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
errBRAIN
IF11.7
err2023-05-05
err9
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errPasschier, Emma M. J.; Kerst, Sven; Brouwers, Eelke; Hamilton, Eline M. C.; Bisseling, Quinty; Bugiani, Marianna; Waisfisz, Quinten; Kitchen, Philip; Unger, Lucas; Breur, Marjolein; Hoogterp, Leoni; de Vries, Sharon, I; Abbink, Truus E. M.; Kole, Maarten H. P.; Leurs, Rob; Vischer, Henry F.; Brignone, Maria S.; Ambrosini, Elena; Feillet, Francois; Born, Alfred P.; Epstein, Leon G.; Mansvelder, Huibert D.; Min, Rogier; van der Knaap, Marjo S.
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
err2023-02-01
err7
errOAAI
errHiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
err2023-01-01
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errOAAI
errBlok, Lot Snijders; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Ounap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmuller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske
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PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis
err2022-11-28
err12
errOAAI
errvan de Beek, Irma; Glykofridis, Iris E.; Oosterwijk, Jan C.; van den Akker, Peter C.; Diercks, Gilles F. H.; Bolling, Maria C.; Waisfisz, Quinten; Mensenkamp, Arjen R.; Balk, Jesper A.; Zwart, Rob; Postma, Alex, V; Meijers-Heijboer, Hanne E. J.; van Moorselaar, R. Jeroen A.; Wolthuis, Rob M. F.; Houweling, Arjan C.
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Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
errBRAIN
IF11.7
err2022-08-12
err8
errOAAI
errdo Rosario, Michelle C.; Bey, Guillermo Rodriguez; Nmezi, Bruce; Liu, Fang; Oranburg, Talia; Cohen, Ana S. A.; Coffman, Keith A.; Brown, Maya R.; Kiselyov, Kirill; Waisfisz, Quinten; Flohil, Myrthe T.; Siddiqui, Shahyan; Rosenfeld, Jill A.; Iglesias, Alejandro; Girisha, Katta Mohan; Wolf, Nicole, I; Padiath, Quasar Saleem; Shukla, Anju
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
err2022-04-01
err14
errOAAI
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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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
err2022-04-01
err20
errOAAI
errStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (vol 23, pg 740, 2021)
err2021-12-01
err1
errOAAI
errFerdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)
err2021-12-01
err1
errOAAI
errGhosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
err2021-04-01
err30
errOAAI
errFerdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.
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Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases
err2021-02-05
err15
errOAAI
errRizzuto, Valeria; Koopmann, Tamara T.; Blanco-Alvarez, Adoracion; Tazon-Vega, Barbara; Idrizovic, Amira; Diaz de Heredia, Cristina; Del Orbe, Rafael; Vara Pampliega, Miriam; Velasco, Pablo; Beneitez, David; Santen, Gijs W. E.; Waisfisz, Quinten; Elting, Mariet; Smiers, Frans J. W.; de Pagter, Anne J.; Kerkhoffs, Jean-Louis H.; Harteveld, Cornelis L.; del Mar Manu-Pereira, Maria
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