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论文共 44 篇作者统计合作学者相似作者

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Expanding the Genetic and Phenotypic Landscape of Replication Factor C Complex-Related Disorders: RFC4 Deficiency is Linked to a Multisystemic Disorder
Marie Morimoto,Eunjin Ryu, Benjamin J. Steger, Abhijit Dixit,Yoshihiko Saito, Juyeong Yoo,Amelie T. van der Ven,Natalie Hauser, Peter J. Steinbach, Kazumasa Oura, Alden Y. Huang,Fanny Kortüm,Shinsuke Ninomiya,Elisabeth A. Rosenthal, Hannah K. Robinson, Katie Guegan,Jonas Denecke, Sankarasubramoney H. Subramony, Callie J. Diamonstein,Jie Ping
American journal of human geneticsno. 9 (2024): 1970-1993
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The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder
Dmitrijs Rots,Taryn E. Jakub,Crystal Keung, Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen, Maria Kibaek,Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, Maria Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria Jose Simoes, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Danielle G. M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Benedicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Riess, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C. E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gael Nicolas, Hanna Kuepper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra
American journal of human geneticsno. 6 (2023): 963-978
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Bi-allelic ACBD6 Variants Lead to a Neurodevelopmental Syndrome with Progressive and Complex Movement Disorders
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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Gain-of-function and Loss-of-function Variants in GRIA3 Lead to Distinct Neurodevelopmental Phenotypes
Berardo Rinaldi,Allan Bayat,Linda G. Zachariassen,Jia-Hui Sun,Yu-Han Ge, Dan Zhao, Kristine Bonde,Laura H. Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M. Lyngby, Miriam G. Pedersen,Charlotte Stenum-Berg, Louise Claudia Walker,Ilona Krey,Andree Delahaye-Duriez,Lisa T. Emrick,Krystal Sully,Chaya N. Murali,Lindsay C. Burrage, Julie Ana Plaud Gonzalez,Mered Parnes,Jennifer Friedman,Bertrand Isidor,Jeremie Lefranc,Sylvia Redon,Delphine Heron,Cyril Mignot,Boris Keren,Melanie Fradin,Christele Dubourg,Sandra Mercier,Thomas Besnard,Benjamin Cogne,Wallid Deb,Clotilde Rivier,Donatella Milani,Maria Francesca Bedeschi, Claudia Di Napoli,Federico Grilli,Paola Marchisio, Suzanna Koudijs, Danielle Veenma,Emanuela Argilli,Sally Ann Lynch,Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela,Carolyn Brown,Diane Masser-Frye,Marilyn Jones,Leslie Patron Romero, Wenhui Laura Li,Erin Thorpe,Laura Hecher,Jessika Johannsen,Jonas Denecke,Vanda McNiven,Anna Szuto,Emma Wakeling,Vincent Cruz,Valerie Sency, Heng Wang,Juliette Piard,Fanny Kortuem,Theresia Herget,Tatjana Bierhals, Angelo Condell,Bruria Ben-Zeev,Simranpreet Kaur,John Christodoulou,Amelie Piton,Christiane Zweier,Cornelia Kraus,Alessia Micalizzi,Marina Trivisano,Nicola Specchio,Gaetan Lesca,Rikke S. Moller,Zeynep Tumer,Maria Musgaard,Benedicte Gerard,Johannes R. Lemke,Yun Stone Shi,Anders S. Kristensen
Brain (2023)
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作者统计

#Papers: 44

#Citation: 1482

H-Index: 17

G-Index: 38

Sociability: 7

Diversity: 0

Activity: 1

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