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Maayke A. de Koning, Paula A. Pimienta Ramirez,Monique C. Haak,Xiao Han, Martina H. A. Ruiterkamp-Versteeg,Nicole de Leeuw,Ulrich A. Schatz,Moneef Shoukier,Esther Rieger-Fackeldey,Javier U. Ortiz,Sjoerd G. van Duinen,Willemijn M. Klein,Ruben S. G. M. Witlox,Richard H. Finnell,Gijs W. E. Santen,Yunping Lei,Manon Suerink
JOURNAL OF MEDICAL GENETICSno. 6 (2024): 549-552
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 467-467
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Francesca Magrinelli,Christelle Tesson,Plamena R Angelova, Ainara Salazar-Villacorta,Jose A Rodriguez,Annarita Scardamaglia,Brian Hon-Yin Chung, Matthew Jaconelli,Barbara Vona,Noemi Esteras,Anna Ka-Yee Kwong,Thomas Courtin,Reza Maroofian,Shahryar Alavi,Raja Nirujogi,Mariasavina Severino,Patrick A Lewis,Stephanie Efthymiou,Benjamin O'Callaghan,Rebecca Buchert,Linda Sofan,Pawel Lis, Chloé Pinon,Guido J Breedveld,Martin Man-Chun Chui,David Murphy,Vanessa Pitz,Mary B Makarious,Marlene Cassar,Bassem A Hassan,Sana Iftikhar,Clarissa Rocca,Peter Bauer,Michele Tinazzi,Marina Svetel,Bedia Samanci,Haşmet A Hanağası,Basar Bilgiç,José A Obeso,Monica M Kurtis,Guillaume Cogan,Ayşe Nazlı Başak,Güneş Kiziltan,Tuğçe Gül, Gül Yalçın,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,Christine Fauth,Ulrich A Schatz,Thomas Zöggeler,Michael Zech,Karen Stals,Vinod Varghese,Sonia Gandhi,Cornelis Blauwendraat,John A Hardy,Suzanne Lesage,Vincenzo Bonifati,Tobias B Haack,Aida M Bertoli-Avella,Robert Steinfeld,Dario R Alessi,Hermann Steller,Alexis Brice,Andrey Y Abramov,Kailash P Bhatia,Henry Houlden
medRxiv the preprint server for health sciences (2024)
Maria Carla Borroto, Heena Patel,Siddharth Srivastava,Lindsay C. Swanson,Boris Keren,Sandra Whalen,Cyril Mignot, Xiaodong Wang,Qian Chen,Jill A. Rosenfeld,Scott McLean,Rebecca O. Littlejohn,Lisa Emrick,Lindsay C. Burrage,Ruben Attali,Gaetan Lesca,Cecile Acquaviva-Bourdain,Catherine Sarret,Laurie H. Seaver,Konrad Platzer,Tobias Bartolomaeus, Cornelia Wuensch, Susann Fischer, Ana Maria Rodriguez Barreto,Jorge L. Granadillo,Elisabeth Schreiner,Theresa Brunet,Ulrich A. Schatz,Isabelle Thiffault,Sureni V. Mullegama,Jacques L. Michaud,Fadi F. Hamdan,Elsa Rossignol,Philippe M. Campeau
Pediatric Neurology (2024): 45-53
Axel 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 Basin,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
Nature Geneticsno. 8 (2024): 1644-1653
Zhigang Liu,Baozhong Xin,Iris N. Smith,Valerie Sency, Julia Szekely,Anna Alkelai,Alan Shuldiner,Stephanie Efthymiou,Farrah Rajabi,Stephanie Coury,Catherine A. Brownstein,Sabine Rudnik-Schoeneborn,Ange-Line Bruel,Julien Thevenon,Shimriet Zeidler,Parul Jayakar,Axel Schmidt,Kirsten Cremer,Hartmut Engels,Sophia O. Peters,Maha S. Zaki,Ruizhi Duan,Changlian Zhu,Yiran Xu,Chao Gao,Tania Sepulveda-Morales,Reza Maroofian,Issam A. Alkhawaja,Mariam Khawaja,Hunaida Alhalasah,Henry Houlden,Jill A. Madden,Valentina Turchetti,Dana Marafi,Pankaj B. Agrawal,Ulrich Schatz, Ari Rotenberg,Joshua Rotenberg,Grazia M. S. Mancini,Somayeh Bakhtiari,Michael Kruer,Isabelle Thiffault,Steffen Hirsch,Maja Hempel,Lara G. Stuehn,Tobias B. Haack,Jennifer E. Posey,James R. Lupski,Hyunpil Lee,Nicholas B. Sarn,Charis Eng,Claudia Gonzaga-Jauregui,Bin Zhang,Heng Wang
HUMAN MOLECULAR GENETICSno. 20 (2023): 2981-2995
Reza Maroofian,Rauan Kaiyrzhanov,Elisa Cali,Mina Zamani,Maha S. Zaki,Matteo Ferla,Domenico Tortora,Saeid Sadeghian,Saadia Maryam Saadi,Uzma Abdullah,Ehsan Ghayoor Karimiani,Stephanie Efthymiou,Goezde Yesil,Shahryar Alavi,Aisha M. Al Shamsi,Homa Tajsharghi,Mohamed S. Abdel-Hamid,Nebal Waill Saadi,Fuad Al Mutairi,Lama Alabdi,Christian Beetz,Zafar Ali,Mehran Beiraghi Toosi,Sabine Rudnik-Schoeneborn,Meisam Babaei,Pirjo Isohanni,Jameel Muhammad,Sheraz Khan,Maha Al Shalan,Scott E. Hickey,Daphna Marom,Emil Elhanan,Manju A. Kurian,Dana Marafi,Alihossein Saberi,Mohammad Hamid,Robert Spaull,Linyan Meng,Seema Lalani,Shazia Maqbool,Fatima Rahman,Juergen Seeger,Timothy Blake Palculict,Tracy Lau,David Murphy,Niccolo Emanuele Mencacci,Katharina Steindl,Anais Begemann,Anita Rauch,Sinan Akbas,Ayca Dilruba Aslanger,Vincenzo Salpietro,Hammad Yousaf,Shay Ben-Shachar,Katarina Ejeskaer, Aida Al Aqeel,Frances A. High, Amy E. Armstrong-Javors,Seyed Mohammadsaleh Zahraei,Tahereh Seifi,Jawaher Zeighami,Gholamreza Shariati,Alireza Sedaghat,Samaneh Noroozi Asl,Mohmmad Shahrooei,Giovanni Zifarelli,Lydie Burglen,Claudia Ravelli,Johannes Zschocke,Ulrich A. Schatz,Maryam Ghavideldarestani,Walaa A. Kamel,Hilde Van Esch,Annette Hackenberg,Jenny C. Taylor,Lihadh Al-Gazali,Peter Bauer,Joseph J. Gleeson,Fowzan Sami Alkuraya,James R. Lupski,Hamid Galehdari,Reza Azizimalamiri,Wendy K. Chung,Shahid Mahmood Baig,Henry Houlden,Mariasavina Severino
Axel 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 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,Tim Bender,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Spier Isabel,Heimbach André,Bender Tim,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,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,Vill Katharina,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,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
openalex（2023）
Rauan Kaiyrzhanov,Aboulfazl Rad,Sheng-Jia Lin,Aida Bertoli-Avella,Wouter W. Kallemeijn,Annie Godwin,Maha S. Zaki,Kevin Huang,Tracy Lau,Cassidy Petree,Stephanie Efthymiou,Ehsan Ghayoor Karimiani,Maja Hempel,Elizabeth A. Normand,Sabine Rudnik-Schoeneborn,Ulrich A. Schatz,Marc P. Baggelaar,Muhammad Ilyas,Tipu Sultan,Javeria Raza Alvi, Manizha Ganieva,Ben Fowler,Ruxandra Aanicai,Gulsen Akay Tayfun, Abdulaziz Al Saman,Abdulrahman Alswaid,Nafise Amiri, Nilufar Asilova,Vorasuk Shotelersuk,Patra Yeetong,Matloob Azam,Meisam Babaei,Gholamreza Bahrami Monajemi,Pouria Mohammadi,Saeed Samie, Selina Husna Banu,Jorge Pinto Basto,Fanny Kortuem,Mislen Bauer,Peter Bauer,Christian Beetz,Masoud Garshasbi, Awatif Hameed Issa,Wafaa Eyaid,Hind Ahmed,Narges Hashemi,Kazem Hassanpour,Isabella Herman, Sherozjon Ibrohimov,Ban A. Abdul-Majeed,Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal,Suliman Khan,Brian Kirmse,Janet Koster,Charles Marques Lourenco,Tadahiro Mitani,Oana Moldovan,David Murphy,Maryam Najafi,Davut Pehlivan,Maria Eugenia Rocha,Vincenzo Salpietro,Miriam Schmidts,Adel Shalata,Mohammad Mahroum, Jawabreh Kassem Talbeya,Robert W. Taylor, Dayana Vazquez,Annalisa Vetro,Hans R. Waterham,Mashaya Zaman,Tina A. Schrader,Wendy K. Chung,Renzo Guerrini,James R. Lupski,Joseph Gleeson,Mohnish Suri,Yalda Jamshidi,Kailash P. Bhatia,Barbara Vona,Michael Schrader,Mariasavina Severino,Matthew Guille,Edward W. Tate,Gaurav K. Varshney,Henry Houlden,Reza Maroofian
Brainno. 4 (2023): 1436-1456
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