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Slavica Trajkova

University of Torino
H指数:11
被引数:951

个人简介

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教育背景

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工作经历

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荣誉奖项

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Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

氯化锂体外处理显示出挽救由WDFY3单倍剂量不足引起的神经元表型的潜力

Molecular Psychiatry
IF10.1
2026-09-270
OA
Moritz J. Paha; Arshi Mustafa; Lyvin Tat; Sandy Richter; Linnaeus Bundalian; Sworadip Chowdhury; Akhil Velluva; Robin-Tobias Jauss; Knut Krohn; Kathleen Schön; Max Holzer; Anna S. Kirstein; Meena Balasubramanian; María Juliana Ballesta-Martínez; Lynne M. Bird; Kirsty Bradshaw; Ange-Line Bruel; Alfredo Brusco; Yanmin Chen; Aurore Garde; Silvia Guarducci; Yoel Gofin; Rachel E. Harrison; Alexis Heidlebaugh; Anna Hurst; Julian A. Martinez-Agosto; Jessica L. Mester; Alistair T. Pagnamenta; Marilena Pantaleo; Andrea Paras; Angela Peron; Tiziana Pisano; Ahna M. Rabani; Marcello Scala; Elena Shukarova-Angelovska; Sui Yang; Slavica Trajkova; Sheila Umayam; Tianyun Wang; Rami Abou Jamra; Johannes R. Lemke; Wieland Kiess; Konstantinos S. Zarbalis; Antje Garten; Diana Le Duc
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

新型镜像综合征的界定：<i>NFIC</i> 变种导致伴有巨头的综合征性智力障碍

Clinical Genetics
IF2.3
2026-09-260
PRE
Nathalie Vanden Eynde; Lucas Hérissant; Emilie Landais; Matthieu Egloff; Marlène Rio; Geneviève Baujat; Fabienne Giuliano; Houda Karmous-Benailly; Charles Coutton; Véronique Satre; Gaëlle Vieville; Paul Kuentz; Mathilde Nizon; Claire Beneteau; Bertrand Isidor; Patrick Callier; Valentine Marquet; Eric Bieth; Jonathan Lévy; Anne-Claude Tabet; François Cartault; Sophie Scheidecker; Aurélie Gouronc; Audrey Schalk; Chloé Angélini; Perrine Pennamen; Caroline Rooryck; Slavica Trajkova; Biljana Gagachovska; Brynn Shrom-Model; Stephen R. Braddock; Paul Hillman; Lingying Liu; Christina Dühring Fenger; Trine Bjørg Hammer; Ina Schanze; Martin Zenker; Martine Doco-Fenzy; Céline Poirsier; Guillaume Jouret
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

神经WES项目：十年间对神经发育障碍进行综合表型分析和遗传分析的经验总结

Human Genetics
IF3.6
2026-07-080
OAAI
Simona Cardaropoli; Lisa Pavinato; Slavica Trajkova; Diana Carli; Verdiana Pullano; Flavia Palermo; Alessandro Mussa; Elisa Biamino; Vincenzo Antona; Andrea Zonta; Paola Dimartino; Mariia Zadorozhna; Alessandro Bruselles; Roberto Keller; Barbara Pasini; Enrico Grosso; Giorgia Mandrile; Joseph D. Buxbaum; Silvia De Rubeis; Tommaso Pippucci; Marco Tartaglia; Elisa Giorgio; Alfredo Brusco; Giovanni Battista Ferrero
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观签名作为Diamond-Blackfan贫血综合征的新型诊断工具

American Journal of Hematology
IF9.9
2025-11-170
OAAI
Paola Quarello; Karim Karimi; Slavica Trajkova; Emanuela Garelli; Mehdi Samadieh; Emanuela Iovino; Tommaso Pippucci; Giovanni Papagni; Sandra Dalfonso; Lucia Corrado; Serena Rizzo; Adriana Carando; Jennifer Kerkhof; Jessica Rzasa; Haley McConkey; Michael Levy; Marco Zecca; Francesca Fioredda; Angelica Barone; Simone Cesaro; Maria Gabelli; Francesca Torchio; Giulia Zucchetti; Maria Elena Cantarini; Paola Corti; Ugo Ramenghi; Franco Locatelli; Franca Fagioli; Bekim Sadikovic; Alfredo Brusco
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

DNA甲基化表观签名用于Smith-Magenis和Potocki-Lupski综合征：镜像视角

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-09-010
PRE
van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-01-010
OAAI
van der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
GENETICS IN MEDICINE
IF6.2
2025-01-010
OAAI
van der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-07-012
OAAI
van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-07-010
OAAI
Trajkova, Slavica; Kerkhof, Jennifer; Sebastiano, Matteo Rossi; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M.; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
HUMAN GENETICS
IF3.6
2024-05-243
OAAI
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
GENETICS IN MEDICINE
IF6.2
2024-03-010
OAAI
Karimi, Karim; Mol, Merel O.; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Mcconkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H.; Tedder, Matthew L.; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M.; Bouman, Arjan; Sadikovic, Bekim
Identification of the DNA methylation signature of Mowat-Wilson syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-02-132
OAAI
Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A.; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; Mcconkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
GENETICS IN MEDICINE
IF6.2
2023-08-0111
PRE
Rooney, 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
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

在未解决的神经发育疾病病例中偏斜的X染色体失活可以指导对X连锁基因的重新评估

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-03-0614
OA
Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D.; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-02-017
OAAI
Hiatt, 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.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

罕见的编码变异提供了对自闭症遗传结构和表型背景的洞察

NATURE GENETICS
IF31.8
2022-08-18198
OA
Fu, Jack M.; Satterstrom, F. Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P.; Stevens, Christine R.; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B.; Gauthier, Laura; Lee, Samuel K.; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N.; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H. Y.; Cook, Edwin H.; Cuccaro, Michael L.; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J. Jay; Herman, Gail E.; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S.; Passos-Bueno, Maria Rita; Persico, Antonio M.; Renieri, Alessandra; Sutcliffe, James S.; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C. Y.; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N.; Schmidt, Rebecca J.; Smith, Moyra; Costa, Claudia I. S.; Trajkova, Slavica; Wang, Jaqueline Y. T.; Yu, Mullin H. C.; Cutler, David J.; De Rubeis, Silvia; Buxbaum, Joseph D.; Daly, Mark J.; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J.; Talkowski, Michael E.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
CELL REPORTS
IF6.9
2022-03-0124
OAAI
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya

研究方向

暂未获取到该数据
A
Alfredo Brusco
H 指数:45论文数:351被引数:1.2万
G
Giovanni Battista Ferrero
H 指数:48论文数:378被引数:1.3万
B
Bekim Sadiković
H 指数:45论文数:308被引数:7,009
M
Mariëlle Alders
H 指数:53论文数:222被引数:1.0万
D
Diana Carli
H 指数:21论文数:117被引数:3,251
L
Lisa Pavinato
H 指数:11论文数:51被引数:988
R
Raissa Relator
H 指数:15论文数:65被引数:909
L
Liselot van der Laan
H 指数:9论文数:42被引数:277
V
Verdiana Pullano
H 指数:6论文数:16被引数:152
S
Sadegheh Haghshenas
H 指数:14论文数:40被引数:643