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De Novo Variants in the RNU4-2 Snrna Cause a Frequent Neurodevelopmental Syndrome
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar,Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza,Petr Danecek,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler,Katherine L Lachlan,Seema R Lalani,François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara, Sahar Mansour,Taylor M Maurer,Hector R Mendez,Kay Metcalfe,Stephen B Montgomery,Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark,Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
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Table of Contents, Volume 191A, Number 7, July 2023
My Vuong Hermansen,Lena Lande Wekre,Ingeborg Beate Lidal,Ashlee Joan Macalino, Randall Porter,Lindsay E Smith, Hongyue Wang, Alex V. Levin,Jessica Duis,Austin Skinner,Robert P. Carson,Arnaud Gouelle,M. Annoussamy, Jill L. Silverman,Susan Apkon, Laurent Servais,James Carollo,Gabriella Gazdagh, David Hunt,A. González, Pablo Gustavo Rodríguez,Ayeshah Chaudhry,Marcos Madruga,Fleur Vansenne,Deborah Shears,Aurore Curie,Eva‐Lena Stattin, Britt‐Marie Anderlid,Slavica Trajkova, Elena Angelovska,Catherine McWilliam, Philip Wyatt, Michael P. O’Driscoll,Giles Atton, Anke Bergman,Pia Zacher, Leena Mewasingh,Antonio González-Meneses López, Olga Alonso-Luengo,Htoo A Wai, Ottilie Rohde, Pauline Boiroux,Anne Debant, Susanne Schmidt, Diana Baralle, Thomas Frazier, Robyn M. Busch,Patricia Klaas,Katherine Lachlan,Shafali Jeste,A lexander Kolevzon, Eva Loth,Jacqueline Harris,Leslie Speer, Thomas Pepper,Kristin Anthony,J. Michael Graglia,Christal G. Delagrammatikas,Sandra Bedrosian‐Sermone,Jenine Beekhuyzen,Constance Smith‐Hicks, Mustafa Şahin, Charis Eng,Antonia Y. Hardan, Mirko Uljarević,Jacquelyn Manfredo,George Capone, Lisa R. Yanek, Robert McCarter, Babette S. Zemel, Andrea Kelly, Sheela N. Magge, Sarah Wang,Lina Patel,Elise M. Sannar,Mellad Khoshnood,Natalie K. Boyd, Lorena Mendez,Noemi Alice Spinazzi,Eileen A. Quinn, Michael S. Rafii, Jonathan D. Santoro,Adenrele M. Gleason, Andrea Silveira de Souza,Emory Ryan,Angela Grochowsky, Camille Carter, Özlem Göker-Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky,Lisanne de Koning,Jessica Warnink‐Kavelaars,Marion van Rossum, D. K. Bosman,Leonie A. Menke, Fransiska Malfait, Rosa de Boer, Jaap Oosterlaan,Raoul Engelbert,Lies Rombaut, Petya Angelova,Vasil Velchev,N. D. Stoyanov,Slavena Atemin,Tihomir Todorov,Ivan Tourtourikov, Vanio Mitev, Албена Тодорова,Gökcen Karamık, Beyhan Tüysüz, Esra Işık, Ayşegül Yılmaz, Yasemin Alanay, Cifci Sunamak, Avci Durmusalioglu,Ferda Özkınay, Ozan Gokhan, Nuray Cetin, Elif Öztürk, Banu Mihci,Michell Lozano Chinga, Alison A. Bertuch,Zeinab Afify,Kaylee Dollerschell, Joanne W. Hsu, Tami John, Eswara A. Rao, Robert Rowe, Vijay G. Sankaran, Akiko Shimamura, David Williams,Taizo A. Nakano,Martina Siracusano,Assia Riccioni,Ilaria Frattale,Lucrezia Arturi,Caterina Dante,Cinzia Galasso, Leonardo Gialloreti,Giuseppina Conteduca,Barbara Testa,Michela Malacarne, Domenico Coviello, Luigi Mazzone, Jonathan Lukas Lühmann, Gunnar Schmidt,Bernd Auber, Katharina Anke, Oliver Bergmann, A. Brandau, St Louis, Katrin Hentze, Brigitte Eisfeld, Ruediger Schlegelberger, Dieter Klaes,Päivi Pietilä‐Effati,Jukka T. Saarinen, Eliisa Löyttyniemi,Maria Saarenhovi,Reijo Autio, Ilkka Kantola,Jirat Chenbhanich, Patompong Ungprasert, Paul T. Kröner,Mitsunori Fujino,Masami Ojima, Seiya Mizuno, Sumio Takahashi,Elise Pelgrims, Sally Ann Lynch,Laurens Hannes, Mariétte J.V. Hoffer,Cindy Melotte,Arie van Haeringen, Ann Swillen, Jeroen Breckpot,Monica H. Wojcik,Siddharth Srivastava, Pankaj B. Agrawal,Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo,Diana Carli,Michelle Caudle,Samantha Colaiacovo,Laura M. Cross, Kalliope Demetriou, Katy Drazba,Marina Dutra‐Clarke, Matthew Edwards,Casie A. Genetti, Dorothy K. Grange,Scott E. Hickey, Bertrand Isidor, Sébastien Küry,Herbert M. Lachman,Alinoë Lavillaureix,Michael D. Lyons,Carlo Marcelis,Elysa J. Marco, Julian A. Martinez‐Agosto, C. Nowak,Antonio Pizzol,Marc Planes,Eloise J. Prijoles,Evelise Riberi,Eric T. Rush,Bianca Russell,Rani Sachdev,Betsy Schmalz,David Stevenson, Kate Wilson,Sandra Jansen,Bert de Vries, Cynthia J. Curry,Nicholas A. Borja,Paulo Borjas‐Mendoza,Stephanie Bivona,LéShon Peart,Joanna Gonzalez, Brittney Johnson,Shengru Guo,Roman Yusupov,Undiagnosed Diseases Network, Güney Bademci, Mustafa Tekin,Joanna Ashworth, Sousa Abreu,Isabel Couto Guerra, Susana Almeida,Catarina Cunha, Helena Silva, Ermelinda Santos, Claire Kittock,Mohamad Saifeddine, Lisa Straight,D. Isum Ward,Anna Meroni,Silvia Kalantari,Alessia Arossa, Arsenio Spinillo,Chiara Melito, Licia Annachiara, Stefania Scatigno, E. Cesari, Giorgio Melchiori, Tessa Furione, Fabio Homfray,Katarzyna Polonis,Jaime L. Lopes,Huong Cabral,Holly E. Babcock,Laura Kline, Kaylee M. Ruiz,Stuart Schwartz,Linda Hasadsri,Ross Rowsey,Nicole L. Hoppman,Hiroshi Kurosaka,Sayuri Yamamoto,Kyoko Hirasawa,Tomoe Yanagishita,Kaoru Fujioka,Hideaki Yagasaki,Miho Nagata,Yasuki Ishihara,Ayumi Yonei, Yoshihiro Asano,Namiki Nagata,Takayuki Tsujimoto,Toshihiro Inubushi, Toshiyuki Yamamoto, Norio Sakai, Takashi Yamashiro
American journal of medical genetics Part Ano. 7 (2023): 1681-1686
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Genomic Autopsy to Identify Underlying Causes of Pregnancy Loss and Perinatal Death
Alicia B. Byrne,Peer Arts,Thuong T. Ha,Karin S. Kassahn,Lynn S. Pais,Anne O'Donnell-Luria,Milena Babic,Mahalia S. B. Frank,Jinghua Feng,Paul Wang,David M. Lawrence,Leila Eshraghi,Luis Arriola,John Toubia,Hung Nguyen,George McGillivray,Jason Pinner,Fiona McKenzie,Rebecca Morrow,Jill Lipsett,Nick Manton,T. Yee Khong,Lynette Moore,Jan E. Liebelt,Andreas W. Schreiber,Sarah L. King-Smith,Tristan S. E. Hardy,Matilda R. Jackson,Christopher P. Barnett,Hamish S. Scott,Francois Aguet, Harindra M. Arachchi,Christina A. Austin-Tse,Larry Babb,Samantha M. Baxter,Harrison Brand, Jaime Chang,Katherine R. Chao,Ryan L. Collins,Beryl Cummings, Kayla Delano,Stephanie P. DiTroia,Eleina England,Emily Evangelista,Selin Everett,Laurent C. Francioli,Jack Fu,Vijay S. Ganesh, Kiran Garimella,Laura D. Gauthier,Julia K. Goodrich,Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl,Kristen M. Laricchia, Kathryn E. Larkin,Monkol Lek,Gabrielle Lemire, Rachel B. Lipson,Alysia Kern Lovgren,Daniel G. MacArthur,Brian E. Mangilog,Stacy Mano,Jamie L. Marshall, Thomas E. Mullen,Kevin K. Nguyen,Emily O'Heir,Melanie C. O'Leary,Ikeoluwa A. Osei-Owusu, Jorge Perez de Acha Chavez,Emma Pierce-Hoffman, Heidi L. Rehm, Milan Serrano,Moriel Singer-Berk,Hana Snow,Matthew Solomonson,Rachel G. Son,Abigail Sveden, Michael Talkowski,Grace Tiao,Miriam S. Udler,Zaheer Valivullah,Elise Valkanas,Grace E. VanNoy,Qingbo S. Wang,Nicholas A. Watts,Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall,Monica H. Wojcik,Isaac Wong,Jordan C. Wood, Shifa Zhang,Disna Abeysuriya, Lesley C. Ades,David J. Amor,Susan Arbuckle,Madhura Bakshi,Christopher P. Barnete, Bligh Berry,Tiffany Boughtwood,Adam Bournazos,Alessandra Bray, Fiona Chan,Yuen Chan, Clara Chung, Jonathan Clark, Jackie Collett,Alison Colley, Felicity Collins,Sandra Cooper,Mark A. Corbett,Jane E. Dahlstrom,Peter Dargaville,Janene Davies, Tenielle Davis, Jarrad Dearman,Jayanthi Dissanayake,Julia Dobbins,Helen Doyle,Andrew Dubowsky,Matt Edwards,Lisa J. Ewans,Mitali Fadia,Andrew Fennell, Ken Finlay, Andrew French,Kathryn Friend,Alison E. Gardner, Jozef Gecz,Nicole Graf,Eric A. Haan,Georgina Hollingsworth,Ari E. Horton,Denise Howting,Matthew F. Hunter,Gareth Jevon,Benjamin Kamien,Debra Kennedy,Michael Krivanek,Thessa Kroes,Emma Krzesinski,Edward Kwan,Stephanie Lau,Shannon LeBlanc,Jan Liebelt,Suzanna Lindsey-Temple,Christine K. C. Loo,Julia Low,Amali Mallawaarachchi,Admire Matsika,Tessa Mattiske,Julie McGaughran, Lesley McGregor,Namita Mittal, Ali Moghimi, Hatice Mutlu Albayrak,Jessica Ng,Jillian Nicholl,Nicholas Pachter,John Papadimitriou, Renae Parker, Sarah Parsons,Chirag Patel, Rhonda Pawlowski,Luis A. Perez-Jurado,Jason R. Pinner, Katerina Politis,Cathryn Poulton, Theresa Power, Michael Quinn,Sulekha Rajagopalan, Matthew Regan,Jonathan Rodgers,Steuart Rorke,Rani Sachdev, Suzanne Sallevelt,Sarah A. Sandaradura, Maryam Shamassi, Roshan Shamon,Isabella Sherburn, Ennie Slee, Annalisa Solinas, Ella Sugo, Elizabeth Thompson,Sagarika Tripathy,Anand Vasudevan, Melisa Vazquez, Kunal Verma,Mthulisi Viki,Mathew Wallis,Dani L. Webber, Martin Weber,Karen Whale,Meredith Wilson,Lisa Worgan,Sui Yu
Nature medicine（2023）
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作者统计

#Papers: 58

#Citation: 1107

H-Index: 18

G-Index: 33

Sociability: 7

Diversity: 3

Activity: 44

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