Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

por Perenthaler, Elena, Yousefi, Soheil, Niggl, Eva, Barakat, Tahsin Stefan
Publicado 2019

The non-coding genome in genetic brain disorders: new targets for therapy?

por Medico-Salsench, Eva, Karkala, Faidra, Lanko, Kristina, Barakat, Tahsin Stefan
Publicado 2021

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

por Deng, Ruizhi, McCalman, Melysia T., Bossuyt, Thomas P., Barakat, Tahsin Stefan
Publicado 2021

Precise BAC targeting of genetically polymorphic mouse ES cells

por Barakat, Tahsin Stefan, Rentmeester, Eveline, Sleutels, Frank, Grootegoed, J. Anton, Gribnau, Joost
Publicado 2011

The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1

por Verheul, Thijs C. J., van Hijfte, Levi, Perenthaler, Elena, Barakat, Tahsin Stefan
Publicado 2020

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells

por Barakat, Tahsin Stefan, Halbritter, Florian, Zhang, Man, Rendeiro, André F., Perenthaler, Elena, Bock, Christoph, Chambers, Ian
Publicado 2018

REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in mice

por Gontan, Cristina, Mira-Bontenbal, Hegias, Magaraki, Aristea, Dupont, Catherine, Barakat, Tahsin Stefan, Rentmeester, Eveline, Demmers, Jeroen, Gribnau, Joost
Publicado 2018

RNF12 Activates Xist and Is Essential for X Chromosome Inactivation

por Barakat, Tahsin Stefan, Gunhanlar, Nilhan, Gontan Pardo, Cristina, Achame, Eskeatnaf Mulugeta, Ghazvini, Mehrnaz, Boers, Ruben, Kenter, Annegien, Rentmeester, Eveline, Grootegoed, J. Anton, Gribnau, Joost
Publicado 2011

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

por Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M. E. I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Publicado 2021

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

por Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan
Publicado 2021

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

por Sapir, Tamar, Barakat, Tahsin Stefan, Paredes, Mercedes F., Lerman-Sagie, Tally, Aronica, Eleonora, Klonowski, Wlodzimierz, Nguyen, Laurent, Ben Zeev, Bruria, Bahi-Buisson, Nadia, Leventer, Richard, Rachmian, Noa, Reiner, Orly
Publicado 2019

Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells

por Barakat, Tahsin Stefan, Ghazvini, Mehrnaz, de Hoon, Bas, Li, Tracy, Eussen, Bert, Douben, Hannie, van der Linden, Reinier, van der Stap, Nathalie, Boter, Marjan, Laven, Joop S., Galjaard, Robert-Jan, Grootegoed, J. Anton, de Klein, Annelies, Gribnau, Joost
Publicado 2015

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

por Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H
Publicado 2021

Dynamics of gene silencing during X inactivation using allele-specific RNA-seq

por Marks, Hendrik, Kerstens, Hindrik H. D., Barakat, Tahsin Stefan, Splinter, Erik, Dirks, René A. M., van Mierlo, Guido, Joshi, Onkar, Wang, Shuang-Yin, Babak, Tomas, Albers, Cornelis A., Kalkan, Tüzer, Smith, Austin, Jouneau, Alice, de Laat, Wouter, Gribnau, Joost, Stunnenberg, Hendrik G.
Publicado 2015

Erratum to: Dynamics of gene silencing during X inactivation using allele-specific RNA-seq

por Marks, Hendrik, Kerstens, Hindrik H. D., Barakat, Tahsin Stefan, Splinter, Erik, Dirks, René A. M., van Mierlo, Guido, Joshi, Onkar, Wang, Shuang-Yin, Babak, Tomas, Albers, Cornelis A., Kalkan, Tüzer, Smith, Austin, Jouneau, Alice, de Laat, Wouter, Gribnau, Joost, Stunnenberg, Hendrik G.
Publicado 2016

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

International consensus recommendations on the diagnostic work-up for malformations of cortical development

por Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Publicado 2020

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

por Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
Publicado 2021

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

por Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Publicado 2023