TRAJKOVA, SLAVICA
TRAJKOVA, SLAVICA
SCIENZE MEDICHE
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
2024-01-01 Sarli, Camilla; van der Laan, Liselot; Reilly, Jack; Trajkova, Slavica; Carli, Diana; Brusco, Alfredo; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Tedder, Matthew L; Skinner, Cindy; Alders, Mariëlle; Henneman, Peter; Hennekam, Raoul C M; Ciaccio, Claudia; D'Arrigo, Stefano; Vitobello, Antonio; Faivre, Laurence; Weber, Sacha; Vincent-Devulder, Aline; Perrin, Laurence; Bourgois, Alexia; Yamamoto, Toshiyuki; Metcalfe, Kay; Zollino, Marcella; Kini, Usha; Oliveira, Daniela; Sousa, Sergio B; Williams, Denise; Cappuccio, Gerarda; Sadikovic, Bekim; Brunetti-Pierri, Nicola
Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs)
2023-01-01 Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
2025-01-01 van der Laan, Liselot; Silva, Ananília; 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; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
Deleterious coding variation associated with autism is shared across ancestries
2026-01-01 Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Marina Natividad Avila, F. Kyle Satterstrom, Jack M. Fu, Lambertus Klei, Thariana Pichardo, Christine R. Stevens, Gabriele S. Campos, Claudia I. S. Costa, Michael L. Cuccaro, Magdalena Fernandez, Eugenio Ferro, Liliana Galeano, Ana Cristina D. E. S. Girardi, Luis C. Hernandez, Yunin Ludena, Katherine P. Peña, Jaqueline Y. T. Wang, Irva Hertz-Picciotto, Alexander Kolevzon, Maria Claudia Lattig, Maria Rita Passos-Bueno, Paige M. Siper, Flora Tassone, M. Pilar Trelles, Silvia De Rubeis, Jennifer Foss-Feig, Erina Hara, Andrea del Pilar Lopez, Catherine Sancimino, Renee Soufer, Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C. Y. Chan, Andreas G. Chiocchetti, Brian H. Y. Chung, Brett Collins, Ryan L. Collins, Hilary Coon, David J. Cutler, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Patricia Maciel, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Stephan J. Sanders, Sven Sandin, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Laura Sloofman, Moyra Smith, Pål Suren, James S. Sutcliffe, John A. Sweeney, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Brie Wamsley, Lauren A. Weiss, Mullin H. C. Yu, Ryan Yuen, Michael E. Talkowski, Mark J. Daly, Behrang Mahjani, Edwin H. Cook, Kathryn Roeder, Catalina Betancur, Bernie Devlin, and Joseph D. BuxbaumMahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023-01-01 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; Quélin, Chloé; 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; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; 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
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
2024-01-01 van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
2023-01-01 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; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome
2026-01-01 Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
2022-01-01 Marcogliese P.C.; Deal S.L.; Andrews J.; Harnish J.M.; Bhavana V.H.; Graves H.K.; Jangam S.; Luo X.; Liu N.; Bei D.; Chao Y.-H.; Hull B.; Lee P.-T.; Pan H.; Bhadane P.; Huang M.-C.; Longley C.M.; Chao H.-T.; Chung H.-L.; Haelterman N.A.; Kanca O.; Manivannan S.N.; Rossetti L.Z.; German R.J.; Gerard A.; Schwaibold E.M.C.; Fehr S.; Guerrini R.; Vetro A.; England E.; Murali C.N.; Barakat T.S.; van Dooren M.F.; Wilke M.; van Slegtenhorst M.; Lesca G.; Sabatier I.; Chatron N.; Brownstein C.A.; Madden J.A.; Agrawal P.B.; Keren B.; Courtin T.; Perrin L.; Brugger M.; Roser T.; Leiz S.; Mau-Them F.T.; Delanne J.; Sukarova-Angelovska E.; Trajkova S.; Rosenhahn E.; Strehlow V.; Platzer K.; Keller R.; Pavinato L.; Brusco A.; Rosenfeld J.A.; Marom R.; Wangler M.F.; Yamamoto S.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
2021-01-01 Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene
2024-01-01 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
2024-01-01 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
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
2024-01-01 van der Sluijs, Pleuntje J; Moutton, Sébastien; 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; van Haelst, Mieke M; 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
Missense variant contribution to USP9X-female syndrome
2020-01-01 Jolly, Lachlan A; Parnell, Euan; Gardner, Alison E; Corbett, Mark A; Pérez-Jurado, Luis A; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M; Delatycki, Martin B; Kleefstra, Tjitske; Küry, Sébastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A; Piper, Michael; Penzes, Peter; Gecz, Jozef
NeuroWES-Macedonia: Gene discovery and precision medicine in neurodevelopmental disorders
2022-03-14
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review
2020-01-01 Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022-01-01 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
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 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
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
2025-01-01 Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; Haley, null; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype | 2024 | Sarli, Camilla; van der Laan, Liselot; Reilly, Jack; Trajkova, Slavica; Carli, Diana; Brusco, Alfredo; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Tedder, Matthew L; Skinner, Cindy; Alders, Mariëlle; Henneman, Peter; Hennekam, Raoul C M; Ciaccio, Claudia; D'Arrigo, Stefano; Vitobello, Antonio; Faivre, Laurence; Weber, Sacha; Vincent-Devulder, Aline; Perrin, Laurence; Bourgois, Alexia; Yamamoto, Toshiyuki; Metcalfe, Kay; Zollino, Marcella; Kini, Usha; Oliveira, Daniela; Sousa, Sergio B; Williams, Denise; Cappuccio, Gerarda; Sadikovic, Bekim; Brunetti-Pierri, Nicola | |
| Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs) | 2023 | Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco | |
| CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature | 2025 | van der Laan, Liselot; Silva, Ananília; 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; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter | |
| Deleterious coding variation associated with autism is shared across ancestries | 2026 | Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Marina Natividad Avila, F. Kyle Satterstrom, Jack M. Fu, Lambertus Klei, Thariana Pichardo, Christine R. Stevens, Gabriele S. Campos, Claudia I. S. Costa, Michael L. Cuccaro, Magdalena Fernandez, Eugenio Ferro, Liliana Galeano, Ana Cristina D. E. S. Girardi, Luis C. Hernandez, Yunin Ludena, Katherine P. Peña, Jaqueline Y. T. Wang, Irva Hertz-Picciotto, Alexander Kolevzon, Maria Claudia Lattig, Maria Rita Passos-Bueno, Paige M. Siper, Flora Tassone, M. Pilar Trelles, Silvia De Rubeis, Jennifer Foss-Feig, Erina Hara, Andrea del Pilar Lopez, Catherine Sancimino, Renee Soufer, Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C. Y. Chan, Andreas G. Chiocchetti, Brian H. Y. Chung, Brett Collins, Ryan L. Collins, Hilary Coon, David J. Cutler, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Patricia Maciel, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Stephan J. Sanders, Sven Sandin, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Laura Sloofman, Moyra Smith, Pål Suren, James S. Sutcliffe, John A. Sweeney, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Brie Wamsley, Lauren A. Weiss, Mullin H. C. Yu, Ryan Yuen, Michael E. Talkowski, Mark J. Daly, Behrang Mahjani, Edwin H. Cook, Kathryn Roeder, Catalina Betancur, Bernie Devlin, and Joseph D. BuxbaumMahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D | |
| Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype | 2023 | 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; Quélin, Chloé; 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; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M | |
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | 2024 | Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; 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 | |
| DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants | 2024 | van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A | |
| DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder | 2023 | 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; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter | |
| DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome | 2026 | Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo | |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases | 2022 | Marcogliese P.C.; Deal S.L.; Andrews J.; Harnish J.M.; Bhavana V.H.; Graves H.K.; Jangam S.; Luo X.; Liu N.; Bei D.; Chao Y.-H.; Hull B.; Lee P.-T.; Pan H.; Bhadane P.; Huang M.-C.; Longley C.M.; Chao H.-T.; Chung H.-L.; Haelterman N.A.; Kanca O.; Manivannan S.N.; Rossetti L.Z.; German R.J.; Gerard A.; Schwaibold E.M.C.; Fehr S.; Guerrini R.; Vetro A.; England E.; Murali C.N.; Barakat T.S.; van Dooren M.F.; Wilke M.; van Slegtenhorst M.; Lesca G.; Sabatier I.; Chatron N.; Brownstein C.A.; Madden J.A.; Agrawal P.B.; Keren B.; Courtin T.; Perrin L.; Brugger M.; Roser T.; Leiz S.; Mau-Them F.T.; Delanne J.; Sukarova-Angelovska E.; Trajkova S.; Rosenhahn E.; Strehlow V.; Platzer K.; Keller R.; Pavinato L.; Brusco A.; Rosenfeld J.A.; Marom R.; Wangler M.F.; Yamamoto S. | |
| Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review | 2021 | Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A. | |
| Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene | 2024 | 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 | 2024 | 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 | |
| Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy | 2024 | van der Sluijs, Pleuntje J; Moutton, Sébastien; 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; van Haelst, Mieke M; 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 | |
| Missense variant contribution to USP9X-female syndrome | 2020 | Jolly, Lachlan A; Parnell, Euan; Gardner, Alison E; Corbett, Mark A; Pérez-Jurado, Luis A; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M; Delatycki, Martin B; Kleefstra, Tjitske; Küry, Sébastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A; Piper, Michael; Penzes, Peter; Gecz, Jozef | |
| NeuroWES-Macedonia: Gene discovery and precision medicine in neurodevelopmental disorders | 2022 | - | |
| New insights into potocki-shaffer syndrome: Report of two novel cases and literature review | 2020 | Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A. | |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism | 2022 | 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 | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | 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 | |
| Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations | 2025 | Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; Haley, null; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo |