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Suzanne C.E.H. Sallevelt

Erasmus MC

20H-index
41Paper Count
1.7KCitation Count
Published Papers 26
Publication Date
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies
err2026-04-02
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errSopio Gverdtsiteli; Sebastian Ortiz; Tobias Brünger; Francesca Furia; Carmen Barba; Trine Bjørg-Hammer; Ingo Borggraefe; Roberto Caraballo; Sebahattin Cirak; Alberto Espeche; Walid Fazeli; Renzo Guerrini; Matias Juanes; Karin Kassahn; Maria Kinali; Johannes Krämer; Judith Kröll; Maria Concepción Miranda Herrero; Renske Oegema; Katrin Ounap; Oscar Peñuela; Konrad Platzer; Asuri Narayan Prasad; Aurora Pujol; Karit Reinson; Alfonso Represa; Eugenia Roza; Gabriela Reyes Valenzuela; Agustí Rodríguez-Palmero; Suzanne Sallevelt; Maria Iciar Sanchez-Albiusa; Ingrid E. Scheffer; Cory Smid; Carl E. Stafstrom; Eva-Lena Stattin; Jen R. Suarez; Steffen Syrbe; Kette D. Valente; Matias Wagner; Saskia Wortmann; Elena Gardella; Dennis Lal; Andreas Brunklaus; Rikke S. Møller
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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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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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Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
err2023-06-06
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errvan der Hout, Sanne; Woudstra, Anke J.; Dondorp, Wybo; Sallevelt, Suzanne; de Die-Smulders, Christine; Paulussen, Aimee D. C.; de Wert, Guido
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
err2023-01-19
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errByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui
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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
err2021-08-23
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errGuo, Le; Engelen, Bob P. H.; Hemel, Irene M. G. M.; de Coo, Irenaeus F. M.; Vreeburg, Maaike; Sallevelt, Suzanne C. E. H.; Hellebrekers, Debby M. E., I; Jacobs, Ed H.; Sadeghi-Niaraki, Farah; van Tienen, Florence H. J.; Smeets, Hubert J. M.; Gerards, Mike
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
err2021-06-01
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errSallevelt, Suzanne C. E. H.; Stegmann, Alexander P. A.; de Koning, Bart; Velter, Crool; Steyls, Anja; van Esch, Melanie; Lakeman, Phillis; Yntema, Helger; Esteki, Masoud Zamani; de Die-Smulders, Christine E. M.; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Paulussen, Aimee D. C.
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Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report
err2021-04-01
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errTeunissen, Mariel W. A.; Kamsteeg, Erik-Jan; Sallevelt, Suzanne C. E. H.; Pennings, Maartje; Bauer, Noel J. C.; Vermeulen, R. Jeroen; Nicolai, Joost
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)
err2019-09-01
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errvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
err2019-06-01
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errvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
err2019-05-21
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errWestra, Dineke; Schouten, Meyke, I; Stunnenberg, Bas C.; Kusters, Benno; Saris, Christiaan G. J.; Erasmus, Corrie E.; van Engelen, Baziel G.; Bulk, Saskia; Verschuuren-Bemelmans, Corien C.; Gerkes, E. H.; de Geus, Christa; van Der Zwaag, P. A.; Chan, Sophelia; Chung, Brian; Barge-Schaapveld, Daniela Q. C. M.; Kriek, Marjolein; Sznajer, Yves; Van Spaendonck-Zwarts, Karin; van Der Kooi, Anneke J.; Krause, Amanda; Schonewolf-Greulich, Bitten; De Die-Smulders, Christine; Sallevelt, Suzanne C. E. H.; Krapels, Ingrid P. C.; Rasmussen, Magnhild; Maystadt, Isabelle; Kievit, Anneke J. A.; Witting, Nanna; Pennings, Maartje; Meijer, Rowdy; Gillissen, Christian; Kamsteeg, Erik-Jan; Voermans, Nicol C.
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Mutation-specific effects in germline transmission of pathogenic mtDNA variants
err2018-05-30
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errOtten, Auke B. C.; Sallevelt, Suzanne C. E. H.; Carling, Phillippa J.; Dreesen, Joseph C. F. M.; Drusedau, Marion; Spierts, Sabine; Paulussen, Aimee D. C.; de Die-Smulders, Christine E. M.; Herbert, Mary; Chinnery, Patrick F.; Samuels, David C.; Lindsey, Patrick; Smeets, Hubert J. M.
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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
err2018-02-13
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errKamps, Rick; Szklarczyk, Radek; Theunissen, Tom E.; Hellebrekers, Debby M. E. I.; Sallevelt, Suzanne C. E. H.; Boesten, Iris B.; de Koning, Bart; van den Bosch, Bianca J.; Salomons, Gajja S.; Simas-Mendes, Marisa; Verdijk, Rob; Schoonderwoerd, Kees; de Coo, Irenaeus F. M.; Vanoevelen, Jo M.; Smeets, Hubert J. M.
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Anatomic & metabolic brain markers of the m.3243A > G mutation: A multi-parametric 7T MRI study
err2018-01-01
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errHaast, Roy A. M.; Ivanov, Dimo; IJsselstein, Rutger J. T.; Sallevelt, Suzanne C. E. H.; Jansen, Jacobus F. A.; Smeets, Hubert J. M.; de Coo, Irenaeus F. M.; Formisano, Elia; Uludag, Kamil
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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
err2017-10-18
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errTheunissen, Tom E. J.; Gerards, Mike; Hellebrekers, Debby M. E. I.; van Tienen, Florence H.; Kamps, Rick; Sallevelt, Suzanne C. E. H.; Hartog, Elvira N. M. M. -D.; Scholte, Hans R.; Verdijk, Robert M.; Schoonderwoerd, Kees; de Coo, Irenaeus F. M.; Szklarczyk, Radek; Smeets, Hubert J. M.
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Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices
err2017-07-01
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errSallevelt, Suzanne C. E. H.; Dreesen, Joseph C. F. M.; Coonen, Edith; Paulussen, Aimee D. C.; Hellebrekers, Debby M. E. I.; de Die-Smulders, Christine E. M.; Smeets, Hubert J. M.; Lindsey, Patrick
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A comprehensive strategy for exome-based preconception carrier screening
err2017-05-01
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errSallevelt, Suzanne C. E. H.; de Koning, Bart; Szklarczyk, Radek; Paulussen, Aimee D. C.; de Die-Smulders, Christine E. M.; Smeets, Hubert J. M.
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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
err2017-04-26
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errHellebrekers, Debby Mei; Sallevelt, Suzanne C. E. H.; Theunissen, Tom E. J.; Hendrickx, Alexandra T. M.; Gottschalk, Ralph W.; Hoeijmakers, Janneke G. J.; Habets, Daphna D.; Bierau, Jorgen; Schoonderwoerd, Kees G.; Smeets, Hubert J. M.
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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
err2017-03-01
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errTheunissen, Tom E. J.; Sallevelt, Suzanne C. E. H.; Hellebrekers, Debby M. E. I.; de Koning, Bart; Hendrickx, Alexandra T. M.; van den Bosch, Bianca J. C.; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Hartog, Elvira N. M. Mulder-Den; de Coo, Irenaeus F. M.; Smeets, Hubert J. M.
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment
err2017-02-22
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errHaer-Wigman, Lonneke; van Zelst-Stams, Wendy A. G.; Pfundt, Rolph; van den Born, L. Ingeborgh; Klaver, Caroline C. W.; Verheij, Joke B. G. M.; Hoyng, Carel B.; Breuning, Martijn H.; Boon, Camiel J. F.; Kievit, Anneke J.; Verhoeven, Virginie J. M.; Pott, Jan W. R.; Sallevelt, Suzanne C. E. H.; van Hagen, Johanna M.; Plomp, Astrid S.; Kroes, Hester Y.; Lelieveld, Stefan H.; Hehir-Kwa, Jayne Y.; Castelein, Steven; Nelen, Marcel; Scheffer, Hans; Lugtenberg, Dorien; Cremers, Frans P. M.; Hoefsloot, Lies; Yntema, Helger G.
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PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy
err2017-01-24
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errSallevelt, Suzanne C. E. H.; Dreesen, Joseph C. F. M.; Druesedau, Marion; Hellebrekers, Debby M. E. I.; Paulussen, Aimee D. C.; Coonen, Edith; Van Golde, Ronald J. T.; Geraedts, Joep P. M.; Gianaroli, Luca; Magli, Maria C.; Zeviani, Massimo; Smeets, Hubert J. M.; de Die-Smulders, Christine E. M.
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