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Mala Misra‐Isrie

Amsterdam UMC

10H-index
14Paper Count
325Citation Count
Published Papers 13
Publication Date
Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A
err2026-06-16
err0
errOAAI
errSylvia Korhorn; Additya Sharma; Jan J. Sprengers; Shilpa Anand; Jennifer R. Ramautar; Klaus Linkenkaer-Hansen; Hilgo Bruining; Ruud F. Toonen; Matthijs Verhage; Mala Misra-Isrie
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A clinical and genotype-phenotype analysis of MACF1 variants
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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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
err3
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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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
err2024-01-01
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errOAAI
errvan Berkel, Annemiek Arienne; Lammertse, Hanna Charlotte Andrea; Ottl, Miriam; Koopmans, Frank; Misra-Isrie, Mala; Meijer, Marieke; Dilena, Robertino; van Hasselt, Peter Marin; Engelen, Marc; van Haelst, Mieke; Smit, August Benjamin; van der Sluis, Sophie; Toonen, Ruud Franciscus; Verhage, Matthijs
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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
err2023-08-01
err11
PREAI
errRooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Villemeur, Thierry B. de; Volker-Touw, Catharina M. L.; Verbeek, Nienke; Smagt, Jasper J. van der; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
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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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STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG
err2021-12-23
err17
errOAAI
errHoutman, Simon J.; Lammertse, Hanna C. A.; van Berkel, Annemiek A.; Balagura, Ganna; Gardella, Elena; Ramautar, Jennifer R.; Reale, Chiara; Moller, Rikke S.; Zara, Federico; Striano, Pasquale; Misra-Isrie, Mala; van Haelst, Mieke M.; Engelen, Marc; van Zuijen, Titia L.; Mansvelder, Huibert D.; Verhage, Matthijs; Bruining, Hilgo; Linkenkaer-Hansen, Klaus
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Assessing the landscape of STXBP1-related disorders in 534 individuals
errBRAIN
IF11.7
err2021-11-23
err53
errOAAI
errXian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M.; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C.; Ellis, Colin A.; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; de Goes, Fernanda Veiga; El Achkar, Christelle M.; Doering, Jan Henje; Furia, Francesca; Garcia-Cazorla, Angeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Rigby, Charlene Son; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Moller, Rikke S.; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo
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De novo SPAST mutations may cause a complex SPG4 phenotype
errBRAIN
IF11.7
err2019-06-03
err24
errOAAI
errSchieving, 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.
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
err2016-05-06
err50
errOAAI
errRoosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hulya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R.; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G.; Valente, Enza Maria
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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
err2015-12-01
err71
errOAAI
errIsrie, Mala; Breuss, Martin; Tian, Guoling; Hansen, Andi Harley; Cristofoli, Francesca; Morandell, Jasmin; Kupchinsky, Zachari A.; Sifrim, Alejandro; Maria Rodriguez-Rodriguez, Celia; Porta Dapena, Elena; Doonanco, Kurston; Leonard, Norma; Tinsa, Faten; Moortgat, Stephanie; Ulucan, Hakan; Koparir, Erkan; Karaca, Ender; Katsanis, Nicholas; Marton, Valeria; Vermeesch, Joris Robert; Davis, Erica E.; Cowan, Nicholas J.; Keays, David Anthony; Van Esch, Hilde
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Pseudoautosomal Region 1 Length Polymorphism in the Human Population
err2014-11-06
err24
errOAAI
errMensah, Martin A.; Hestand, Matthew S.; Larmuseau, Maarten H. D.; Isrie, Mala; Vanderheyden, Nancy; Declercq, Matthias; Souche, Erika L.; Van Houdt, Jeroen; Stoeva, Radka; Van Esch, Hilde; Devriendt, Koen; Voet, Thierry; Decorte, Ronny; Robinson, Peter N.; Vermeesch, Joris R.
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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
err2011-06-08
err47
errOAAI
errIsrie, Mala; Hendriks, Yvonne; Gielissen, Nicole; Sistermans, Erik A.; Willemsen, Marjolein H.; Peeters, Hilde; Vermeesch, Joris R.; Kleefstra, Tjitske; Van Esch, Hilde
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