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J

Jolanda Schieving

Radboud University Medical Center
H指数:24
被引数:2,546

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2025-11-031
PRE
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3-related神经发育障碍的综合分析: 表型和基因型特征

European Journal of Human Genetics
IF4.6
2025-06-250
PRE
Camille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2023-05-1513
OAAI
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
GENETICS IN MEDICINE
IF6.2
2023-01-0111
OAAI
van Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Ferreira, Elise A.; Veenvliet, Annemarijne R. J.; Engelke, Udo F. H.; Kluijtmans, Leo A. J.; Huigen, Marleen C. D. G.; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C.; van Bon, Bregje W.; Leenders, Erika; Cornelissen, Elisabeth A. M.; Haaxma, Charlotte A.; Schieving, Jolanda H.; Rubio-Gozalbo, M. Estela; Korver-Keularts, Irene M. L. W.; Marten, Lara M.; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J. M.; Karnebeek, Clara D. M. van; Rodenburg, Richard J.; Coene, Karlien L. M.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2019-09-0554
OAAI
Pennings, Maartje; Schouten, Meyke, I; van Gaalen, Judith; Meijer, Rowdy P. P.; de Bot, Susanne T.; Kriek, Marjolein; Saris, Christiaan G. J.; van den Berg, Leonard H.; van Es, Michael A.; Zuidgeest, Dick M. H.; Elting, Mariet W.; van de Kamp, Jiddeke M.; Van Spaendonck-Zwarts, Karin Y.; de Die-Smulders, Christine; Brilstra, Eva H.; Verschuuren, Corien C.; de Vries, Bert B. A.; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A.; Jaeger, B.; Schieving, Jolanda H.; van de Warrenburg, Bart P.; Kamsteeg, Erik-Jan
De novo SPAST mutations may cause a complex SPG4 phenotype
BRAIN
IF11.7
2019-06-0324
OAAI
Schieving, Jolanda H.; de Bot, Susanne T.; van de Pol, Laura A.; Wolf, Nicole I.; Brilstra, Eva H.; Frints, Suzanna G.; van Gaalen, Judith; Misra-lsrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P.; Willemsen, Michel A.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (vol 104, pg 139, 2019)

影响PP2A，PPP2CA的催化c α 亚基的从头突变会导致类似其他PP2A-Related神经发育障碍的综合征性智力障碍 (104卷，139页，2019页)

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-02-0110
OAAI
Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruzhnikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

影响PP2A，PPP2CA的催化c α 亚基的从头突变会导致类似其他PP2A-Related神经发育障碍的综合征性智力障碍

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-01-0142
OAAI
Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruznikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-05-0165
OAAI
Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
JOURNAL OF MEDICAL GENETICS
IF3.7
2017-11-0273
OAAI
Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-11-0171
OAAI
Lessel, Davor; Schob, Claudia; Kuery, Sebastien; Reinders, Margot R. F.; Harel, Tamar; Eldomery, Mohammad K.; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P. A.; Gerkes, Erica H.; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogne, Benjamin; Revah-Politi, Anya; Strom, Tim M.; Rosenfeld, Jill A.; Yang, Yaping; Posey, Jennifer E.; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L.; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; Schieving, Jolanda H.; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G.; Elpeleg, Orly; Mercier, Sandra; Bezieau, Stephane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R.; Kreienkamp, Hans-Juergen
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
NATURE GENETICS
IF31.8
2016-07-1171
PREAI
Witteveen, Josefine S.; Willemsen, Marjolein H.; Dombroski, Thais C. D.; van Bakel, Nick H. M.; Nillesen, Willy M.; van Hulten, Josephus A.; Jansen, Eric J. R.; Verkaik, Dave; Veenstra-Knol, Hermine E.; van Ravenswaaij-Arts, Conny M. A.; Wassink-Ruiter, Jolien S. Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M.; Engels, Hartmut; de Munnik, Sonja A.; Visser, Jasper E.; Brunner, Han G.; Martens, Gerard J. M.; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M.

研究方向

暂未获取到该数据
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万
L
Lisenka E.L.M. Vissers
H 指数:75论文数:288被引数:2.3万
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
B
Bregje W.M. van Bon
H 指数:54论文数:140被引数:1.3万
B
Bert B.A. de Vries
H 指数:73论文数:287被引数:2.4万
A
Alexander P.A. Stegmann
H 指数:46论文数:153被引数:6,997
M
Marjolein H. Willemsen
H 指数:43论文数:122被引数:9,693
H
Han G. Brunner
H 指数:103论文数:499被引数:5.0万
N
Nienke E. Verbeek
H 指数:37论文数:120被引数:4,506
B
Bart P.C. van de Warrenburg
H 指数:69论文数:364被引数:1.7万