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研究兴趣

论文共 93 篇作者统计合作学者相似作者

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Deleterious ZNRF3 Germline Variants Cause Neurodevelopmental Disorders with Mirror Brain Phenotypes Via Domain-Specific Effects on Wnt/(3-catenin Signaling
Paranchai Boonsawat,Reza Asadollahi, Dunja Niedrist,Katharina Steindl,Anais Begemann,Pascal Joset, Elizabeth J. Bhoj, Dong Li,Elaine Zackai, Annalisa Vetro, Carmen Barba,Renzo Guerrini,Sandra Whalen, Boris Keren, Amjad Khan,Duan Jing, Maria Palomares Bralo, Emi Rikeros Orozco, Qin Hao, Britta Schlott Kristiansen,Bixia Zheng,Deirdre Donnelly, Virginia Clowes,Markus Zweier, Michael Papik, Gabriele Siegel, Valeria Sabatino, Martina Mocera, Anselm H. C. Horn,Heinrich Sticht,Anita Rauch
AMERICAN JOURNAL OF HUMAN GENETICSno. 9 (2024)
引用0浏览0引用
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The Human Ciliopathy Protein RSG1 Links the CPLANE Complex to Transition Zone Architecture
Neftalí Vazquez,Chanjae Lee,Irene Valenzuela, Thao P Phan, Camille Derderian, Marcelo Chávez,Nancie A Mooney,Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco,Marta Codina,Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Buel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges,Pascal Joset,Julie De Geyter, Krishna Vaidyanathan, Tynan Gardner,Michinori Toriyama,Edward M Marcotte,Elle C Roberson,Peter K Jackson,Jeremy F Reiter, Eduardo F Tizzano,John B Wallingford
bioRxiv the preprint server for biology (2024)
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Deleterious, Protein-Altering Variants in the Transcriptional Coregulator ZMYM3 in 27 Individuals with a Neurodevelopmental Delay Phenotype
Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,Jennifer L. Berkowitz,Michael J. Betti,Alfredo Brusco,Ashley Cannon,Giulia Caron,Yanmin Chen,Meagan E. Cochran,Tanner F. Coleman,Molly M. Crenshaw,Laurence Cuisset,Cynthia J. Curry,Hossein Darvish,Serwet Demirdas,Maria Descartes,Jessica Douglas,David A. Dyment,Houda Zghal Elloumi,Giuseppe Ermondi,Marie Faoucher,Emily G. Farrow,Stephanie A. Felker,Heather Fisher,Anna C. E. Hurst,Pascal Joset,Melissa A. Kelly,Stanislav Kmoch, Benjamin R. Leadem,Michael J. Lyons,Marina Macchiaiolo,Martin Magner,Giorgia Mandrile,Francesca Mattioli,Megan McEown,Sarah K. Meadows,Livija Medne,Naomi J. L. Meeks,Sarah Montgomery, Melanie P. Napier,Marvin Natowicz,Kimberly M. Newberry,Marcello Niceta,Lenka Noskova,Catherine B. Nowak,Amanda G. Noyes,Matthew Osmond,Eloise J. Prijoles,Jada Pugh,Verdiana Pullano,Chloe Quelin,Simin Rahimi-Aliabadi,Anita Rauch,Sylvia Redon,Alexandre Reymond,Caitlin R. Schwager,Elizabeth A. Sellars,Angela E. Scheuerle, Elena Shukarova-Angelovska,Cara Skraban,Elliot Stolerman,Bonnie R. Sullivan,Marco Tartaglia,Isabelle Thiffault,Kevin Uguen,Luis A. Umana,Yolande van Bever,Saskia N. van der Crabben,Marjon A. van Slegtenhorst,Quinten Waisfisz,Camerun Washington,Lance H. Rodan,Richard M. Myers,Gregory M. Cooper
American journal of human genetics（2023）
引用4浏览0WOS引用
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Mechanism of KMT5B Haploinsufficiency in Neurodevelopment in Humans and Mice
Sarah E. Sheppard,Laura Bryant,Rochelle N. Wickramasekara,Courtney Vaccaro,Brynn Robertson,Jodi Hallgren,Jason Hulen,Cynthia J. Watson,Victor Faundes,Yannis Duffourd,Pearl Lee,M. Celeste Simon,Xavier de la Cruz,Natalia Padilla,Marco Flores-Mendez,Naiara Akizu,Jacqueline Smiler,Renata Pellegrino Da Silva,Dong Li,Michael March,Abdias Diaz-Rosado,Isabella Peixoto de Barcelos,Zhao Xiang Choa,Chin Yan Lim,Christele Dubourg,Hubert Journel,Florence Demurger,Maureen Mulhern,Cigdem Akman,Natalle Lippa,Marisa Andrews,Dustin Baldridge,John Constantino,Anita Rauch,Arie van Haeingen, Irina Snoeck-Streef,Penny Chow,Anne Hing,John M. Graham,Margaret Au,Laurence Falvre, Wel Shen,Rong Mao,Janice Palumbos,David Viskochil,William Gahl,Cynthia Tifft,Ellen Macnamara,Natalie Hauser,Rebecca Miller, Jessica Maffeo,Alexandra Afenjar,Diane Doummar,Boris Keren,Pamela Arn, Sarah Mackllin-Mantla,Ilse Meerschaut,Bert Callewaert, Andre Rels,Christiane Zweler,Carole Brewer,Anand Saggar,Marie F. Smeland,Ajith Kumar,Frances Elmslie,Charu Deshpande,Mathilde Nizon,Benjamin Cogne,Yvette van Ierland,Martina Wilke,Marjon van Slegtenhorst,Suzanne Koudijs,Jin Yun Chen,David Dredge, Danielle Pler,Saskia Wortmann,Erik-Jann Kamsteeg,Johannes Koch,Devon Haynes,Lynda Pollack,Hannah Titheradge,Kara Ranguin,Anne-Sophie Denomme-Pichon,Sacha Weber,Ruben Perez de la Fuente,Jaime Sanchez del Pozo,Jose Miguel Lezana Rosales,Pascal Joset,Katharina Steindl, Ani Rauch,Davide Mei,Francesco Mari,Renzo Guerrini,James Lespinasse,Frederic Tran Mau-Then,Christophe Philippe,Benjamin Dauriat,Laure Raymond,Sebastien Moutton,Anna M. Cueto-Gonzalez,Tiong Yang Tan,Cyril Mignot,Sarah Grotto,Florence Renaldo,Theodore G. Drivas,Laura Hennessy,Anna Raper,Ilaria Parenti,Frank J. Kaiser,Alma Kuechler,Oyvind L. Busk,Lily Islam,Jacob A. Siedlik,Lindsay B. Henderson,Jane Juusola,Richard Person,Rhonda E. Schnur,Antonio Vitobello,Siddharth Banka,Elizabeth J. Bhoj,Holly A. F. Stessman
Science advancesno. 10 (2023)
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作者统计

#Papers: 93

#Citation: 2695

H-Index: 23

G-Index: 51

Sociability: 7

Diversity: 3

Activity: 31

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