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T
Tobias B. Haack
Institute for Medical Genetics and Applied Genomics
69H-index
466Paper Count
1.5WCitation Count
Published Papers 221
Publication Date
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Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.png)
2026-07-28
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OAAI
Aleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner
2026-07-280OAAIAleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner.png){kind=icon}
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SaveFurther characterization of the BRSK2-associated neurodevelopmental disorder2026-07-270OAAIPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
2026-07-270OAAIPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane ZweierShareSaveAuthor Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.png)
Nature Genetics2026-05-180
OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
Nature GeneticsIF29
2026-05-180OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola WhiffinShareSaveVariants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityNature Communications2026-04-150OAAIFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
Nature CommunicationsIF15.7
2026-04-150OAAIFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry HouldenShareSaveBiallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesNature Genetics2026-04-080OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
Nature GeneticsIF29
2026-04-080OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola WhiffinShareSaveSystematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesNature Genetics2026-03-300OAAIElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
Nature GeneticsIF29
2026-03-300OAAIElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline NavaShareSaveLoss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaNature Communications2026-02-140OAAIBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature CommunicationsIF15.7
2026-02-140OAAIBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. HaackShareSaveDe novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaNature Genetics2026-01-090OAAIMathieu 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
Nature GeneticsIF29
2026-01-090OAAIMathieu 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 RivoltaShareSaveBRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variantsCell2025-11-190OAAIRuizhi 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
CellIF42.5
2025-11-190OAAIRuizhi 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 BarakatShareSaveGermany’s national genomDE strategyNature Medicine2025-10-150Andreas Till; Roman A. Siddiqui; Christian Altbürger; Ronald Schwarz; Tatjana Huebner; Jürgen Wolf; Dorothee Andres; Anika Anker; Stefan Aretz; Tobias B. Haack; Thomas Berlage; Dieter Beule; Melanie Boerries; Ivo Buchhalter; Jens Bussmann; Christoph Engel; Juliane Friedrichs; Stefan Fröhling; Britta Haenisch; Andrea Hahne; Daniel Hübschmann; Friedrich von Kessel; Rudolf Klatt; Simon Kreutzfeldt; Anna Kron; Heiko Krude; Anna Lübbe; Uwe Lührig; Nisar Malek; Christian Mertes; Yvonne Möller; Christine Mundlos; Markus M. Nöthen; Stephan Ossowski; Luca Pötschke; Anna Rasokat; Olaf Riess; Sophia Schade; Peter Schirmacher; Rita Schmutzler; Catharina Scholl; Sebastian C. Semler; Malte Spielmann; Oliver Stegle; Albrecht Stenzinger; Jana Straßburger; Evelin Schröck; Michael Krawczak; Oliver Kohlbacher
Nature MedicineIF50
2025-10-150PREAI
Andreas Till; Roman A. Siddiqui; Christian Altbürger; Ronald Schwarz; Tatjana Huebner; Jürgen Wolf; Dorothee Andres; Anika Anker; Stefan Aretz; Tobias B. Haack; Thomas Berlage; Dieter Beule; Melanie Boerries; Ivo Buchhalter; Jens Bussmann; Christoph Engel; Juliane Friedrichs; Stefan Fröhling; Britta Haenisch; Andrea Hahne; Daniel Hübschmann; Friedrich von Kessel; Rudolf Klatt; Simon Kreutzfeldt; Anna Kron; Heiko Krude; Anna Lübbe; Uwe Lührig; Nisar Malek; Christian Mertes; Yvonne Möller; Christine Mundlos; Markus M. Nöthen; Stephan Ossowski; Luca Pötschke; Anna Rasokat; Olaf Riess; Sophia Schade; Peter Schirmacher; Rita Schmutzler; Catharina Scholl; Sebastian C. Semler; Malte Spielmann; Oliver Stegle; Albrecht Stenzinger; Jana Straßburger; Evelin Schröck; Michael Krawczak; Oliver KohlbacherShareSaveThe Diverse Neuromuscular Spectrum of VPS13A Disease2025-10-011OAAIBuchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell
2025-10-011OAAIBuchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, IsabellShareSaveAcute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series2025-07-160OAAIJ Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
2025-07-160OAAIJ Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G NewmanShareSaveBi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathyGenetics in Medicine2025-06-280OAAIAnneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud
Genetics in MedicineIF6.2
2025-06-280OAAIAnneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. OudShareSaveRecurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsyEpilepsia2025-06-270OAAIJosua Kegele; Hendrik Juenger; Harald Frantzmann; Dieter Gläser; Marc Sturm; Holger Lerche; Tobias B. Haack; Ingrid Bader
EpilepsiaIF6.6
2025-06-270OAAIJosua Kegele; Hendrik Juenger; Harald Frantzmann; Dieter Gläser; Marc Sturm; Holger Lerche; Tobias B. Haack; Ingrid BaderShareSaveA Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum MarkersHuman Mutation2025-06-260OAAIKristina Falkenstein; Lukas Hoeren; Frauke Kikul; Gernot Poschet; Christian Lüchtenborg; Ines B. Brecht; Ruth Falb; Darja Gauck; Tobias Haack; Andreas Hecker
Human MutationIF3.7
2025-06-260OAAIKristina Falkenstein; Lukas Hoeren; Frauke Kikul; Gernot Poschet; Christian Lüchtenborg; Ines B. Brecht; Ruth Falb; Darja Gauck; Tobias Haack; Andreas HeckerShareSaveAuthor Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2025-06-240OAAIAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
2025-06-240OAAIAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias WagnerShareSaveClinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsbreast2025-05-150OAAIDennis Witt; Marc Sturm; Antje Stäbler; Benita Menden; Lisa Ruisinger; Kristin Bosse; Ines Gruber; Andreas Hartkopf; Silja Gauß; German Demidov; Nicolas Casadei; Elena Buena Atienza; Kira Mehnert; Janna Witt; Caspar Gross; Leon Schütz; Christopher Schroeder; Stephan Ossowski; Andreas Dufke; Tobias B. Haack; Olaf Riess; Ulrike Faust
breastIF0
2025-05-150OAAIDennis Witt; Marc Sturm; Antje Stäbler; Benita Menden; Lisa Ruisinger; Kristin Bosse; Ines Gruber; Andreas Hartkopf; Silja Gauß; German Demidov; Nicolas Casadei; Elena Buena Atienza; Kira Mehnert; Janna Witt; Caspar Gross; Leon Schütz; Christopher Schroeder; Stephan Ossowski; Andreas Dufke; Tobias B. Haack; Olaf Riess; Ulrike FaustShareSaveThe genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortEBIOMEDICINE2025-05-010Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis
EBIOMEDICINEIF10.8
2025-05-010PREAI
Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, MatthisShareSaveBi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy2025-04-010OAAIKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
2025-04-010OAAIKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, CarloShareSaveDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders2025-02-010OAAILessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
2025-02-010OAAILessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, DavorShareSaveResearch Directions
No research directions