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Tahsin Stefan Barakat

erasmus university medical center

31H-index
158Paper Count
3.6KCitation Count
Published Papers 76
Publication Date
Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney
err2026-07-22
err0
errOAAI
errPatrick R. Walsh; Uttiya Basu; Tahsin Stefan Barakat; Bodo B. Beck; Enrico Bertini; Vicky Brocklebank; Nuno Corderio; Jasmina Ćomić; Nora Abazi-Emini; Joel Fluss; Annette George; Marcus Bulow; Beth Gibson; Sophie Hambleton; Julia Hoefele; David Hunt; Ivan Ivanov; Sally Johnson; Urania Kotzaeridou; Jana Laštůvková
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C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption
err2026-04-28
err0
errOAAI
errHali Harwood; Brenna M. Zimmer; Asher R. Utz; Myrrhe Venema; Emily Allego; Sydney S. Skirboll; Autumn Harding; Jeffrey R. Enders; Sarah Grantham-Hill; Frances Elmslie; Yong-Ru Ly; Antonia Clarke; Maria Xu; Hui Jeen Tan; Karen Stals; Saumya Shekhar Jamuar; Tahsin Stefan Barakat; Thomas M. Makris; Joseph J. Barycki; Melanie A. Simpson
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Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
err2026-04-23
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errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; T homas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
err2026-04-08
err0
errOAAI
errAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
err2026-03-30
err0
errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; Thomas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
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Reply to: “Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions”
err2026-02-10
err0
PREAI
errAna Westenberger PhD; Edgard Verdura PhD; Mandy Radefeldt MSc; Leslie Sanderson PhD; Tahsin Stefan Barakat MD, PhD; Belén Perez-Dueñas MD, PhD; Aida M. Bertoli-Avella MD, PhD
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Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
err2026-02-04
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PREAI
errFatimah Albuainain; Myrrhe Venema; Rachel Schot; Gideon Huigen; Grazia M. S. Mancini; Tjakko J. van Ham; Tahsin Stefan Barakat
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
err2026-01-09
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errOAAI
errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
errBRAIN
IF11.7
err2025-12-01
err0
PREAI
errMaroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
errCell
IF42.5
err2025-11-19
err0
errOAAI
errRuizhi Deng; Elena Perenthaler; Anita Nikoncuk; Soheil Yousefi; Kristina Lanko; Rachel Schot; Michela Maresca; Eva Medico-Salsench; Leslie E. Sanderson; Michael J. Parker; Wilfred F.J. van Ijcken; Joohyun Park; Marc Sturm; Tobias B. Haack; Gennady V. Roshchupkin; Eskeatnaf Mulugeta; Tahsin Stefan Barakat
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Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants
err2025-11-07
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errOAAI
errAna Westenberger; Edgard Verdura; Mandy Radefeldt; Leslie E. Sanderson; Kornelia Tripolszki; Anna Marcé-Grau; Ana Cazurro-Gutiérrez; Anita Nikoncuk; Rebecca Herzog; Ruslan Al-Ali; Mariana Ferreira; Ligia S. Almeida; Tainá Regina Damaceno Silveira; Suliman Khan; Raphael Doyle Maia; Péter Klivényi; András Salamon; Volkan Baltaci; Asli Subasioglu; Jeanette Prada-Arismendy; Goran Čuturilo; Sebastian Loens; Vera Tadic; Isabelle Maystadt; Deniz Karadurmus; Barbara Leube; Jonathan De Winter; Alice Monticelli; Liesbeth De Waele; Jonathan Baets; Mateja Vinkšel; Aleš Maver; Lorena Tschopp; Gabriela Ziegler; Ana Sanguinetti; Katja Lohmann; Tahsin Stefan Barakat; Peter Bauer; Belén Perez-Dueñas; Aida M. Bertoli-Avella
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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
err2025-10-20
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errOAAI
errDaphne J. Smits; Federico Ferraro; Mark Drost; Herma C. van der Linde; Bianca M. de Graaf; Yolande van Bever; Alice S. Brooks; Livija Bardina; Hennie T. Brüggenwirth; Christophe Debuy; Laura Donker Kaat; Bastiaan T. van Dijk; Nienke van Engelen; Geert Geeven; Raoul van de Graaf; Désirée Y. van Haaften-Visser; Peter M. van Hasselt; Daphne Heijsman; Yvonne M. C. Hendriks; Rebekkah J. Hitti-Malin; Lies H. Hoefsloot; Glenn Huijbregts; Hanna IJspeert; Sander Lamballais; Jona Mijalkovic; Merel O. Mol; Diënna Nawawi; Nadine Nederpelt; Esther A. R. Nibbeling; Wouter te Rijdt; Rachel Schot; Marjon van Slegtenhorst; Frank Sleutels; Eva L. M. Ulenkate; Monique Van Veghel – Plandsoen; Judith M. A. Verhagen; David Vos; Erwin Wauters; Martina Wilke; Marc Sylva; Tahsin Stefan Barakat; Tjakko J. van Ham; Tjitske Kleefstra; Dmitrijs Rots; Virginie J. M. Verhoeven
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Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
err2025-09-27
err0
errOAAI
errFederico Ferraro; Nikolas Kühn; Dmitrijs Rots; Herma C. van der Linde; Banin Mohseni; Leontine van Unen; Mark Drost; Mark Nellist; Marieke Koekkoek; Rachel Schot; Henriette W. de Gier; Mieke Pleumeekers; Tahsin Stefan Barakat; Tjitske Kleefstra; Marjolein Weerts; Marieke F. van Dooren; Tjakko J. van Ham
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
err2025-09-22
err0
PREAI
errMark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
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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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Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders
err2025-08-27
err0
errOAAI
errJarosław Dulski; Arun K. Boddapati; Barbara Risi; Pablo Iruzubieta; Antonio Orlacchio; Roberto Fernández-Torrón; Tamara Castillo-Triviño; Adolfo López de Munain; Steve Vucic; Alessandro Padovani; Laura Donker Kaat; Tahsin Stefan Barakat; Leonard Petrucelli; Mercedes Prudencio; John E. Landers; Jochen H. Weishaupt; Andreas Prokop; Massimiliano Filosto; Zbigniew K. Wszolek; Devesh C. Pant
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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
err2025-07-29
err0
PREAI
errDaphne J. Smits; Christophe Debuy; Alice S. Brooks; Rachel Schot; Federico Ferraro; Dmitrijs Rots; Arjan Bouman; Virginie J. M. Verhoeven; Laura Donker Kaat; Sarina G. Kant; Yolande van Bever; Serwet Demirdas; Shimriet Zeidler; Marieke F. van Dooren; Stephany H. Donze; Lies H. Hoefsloot; Marjon A. van Slegtenhorst; Martina Wilke; Frank Sleutels; Mark Drost; Hennie T. Brüggenwirth; Rick van Minkelen; Anne Goverde; Janna A. Hol; Ingrid M. B. H. van de Laar; Yvette van Ierland; Anneke Kievit; Vyne van der Schoot; Kyra E. Stuurman; Grazia M. S. Mancini; Marja W. Wessels; Tjakko J. van Ham; Tjitske Kleefstra; Tahsin Stefan Barakat
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Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
err2025-07-01
err0
errOAAI
errLubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K.
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Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency
err2025-06-13
err0
PREAI
errAlessandro Ferretti; Margherita Furlan; Kevin E. Glinton; Christina D. Fenger; Felix Boschann; Shimriet Zeidler; Corinna Stoltenburg; Tahsin Stefan Barakat; Julian A. Martinez-Agosto; Orrin Devinsky; Francesca Furia; Guido Rubboli; Anteo Di Napoli; Giulia Bellone; Silvia Furio; Marisa Piccirillo; Maurizio Mennini; Giovanni Di Nardo; Pasquale Parisi; Rikke S. Møller; Elena Gardella
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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
err2025-05-27
err0
errOAAI
errvan Oirsouw, Amber S. E.; Hadders, Michael A.; Koetsier, Martijn; Peters, Edith D. J.; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noelle; Boone, Philip M.; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S.; Genetti, Casie A.; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana; Lee, Kristen N.; Maya, Idit; McEntagart, Meriel; Northrup, Hope; Pujalte, Mathilde; Richardson, Kate; Walker, Susan; Koeleman, Bobby P. C.; Alders, Marielle; van Jaarsveld, Richard H.; Oegema, Renske
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