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Papers共 107 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic UGGT1 Variants Cause a Congenital Disorder of Glycosylation
Zain Dardas, Laura Harrold,Daniel G Calame,Claire G Salter,Takashi Kikuma, Kevin P Guay, Bobby G Ng,Kanae Sano, Ahmad K Saad, Haowei Du,Riccardo Sangermano, Sohil G Patankar,Shalini N Jhangiani,Semra Gürsoy,Mohamed S Abdel-Hamid, Mahmoud K H Ahmed,Reza Maroofian,Rauan Kaiyrzhanov,Kamran Salayev, Wendy D Jones, Ana Pérez Caballero, Lucy McGavin, Michael Spiller,Miranda Durkie, Nick Wood, Lauren O'Grady, Paula Goldenberg,Ann M Neumeyer,Amber Begtrup, Sherif F Abdel-Ghafar,Maha S Zaki,Hilde Van Esch,Jennifer E Posey, Olivia K Wenger, Ethan M Scott,Kinga M Bujakowska,Richard A Gibbs,Davut Pehlivan,Dana Marafi,Joseph S Leslie, Nishanka Ubeyratna,Jacob Day,Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim,Lama Alabdi, Fowzan S Alkuraya,Yoichi Takeda, Hudson H Freeze,Daniel N Hebert,James R Lupski,Andrew H Crosby,Emma L Baple
American journal of human geneticsno. 5 (2025): 1139-1157
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A Proposed Role for CDO1 in CNS Development: Three Children with Rare Missense Variants and a Neurological Phenotype
Leah Rowe,Sureni V Mullegama, Rachel Lombardo, Caitlin Barnes,Shelley Towner, Matthew T Snyder, Alexis Heidlebaugh, Heather Riordan,Amber Begtrup,Amy Crunk, Hong Cui, Amy E Dameron,Leandra Folk,Maria J Guillen Sacoto,Jane Juusola, Olivia L Redlich,Adi Reich, Bobbi McGivern
HGG advancesno. 2 (2025): 100417-100417
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Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies
Sébastien Küry,Janelle E Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G Monaghan,Sureni V Mullegama, C M L Nienke Volker-Touw,Koen L I van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A Bernier,Tychele N Turner,Siddharth Srivastava,Kira A Dies,Lindsay Swanson,Carrie Costin,Rebekah K Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B Beck, McV Malicdan,David R Adams,Lynne Wolfe,Rebecca D Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T Timberlake,Hind Al Saif, Berkley Nestler,Kayla King,M J Hajianpour,Gregory Costain, D'Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard,Maria Daniela D'Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B Kamphausen,Viktoria Bothe,Larissa M Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W Hildebrand,Evan E Eichler,Kirsty McWalter,Peter M Krawitz,Arnaud Droit,Ype Elgersma,Andreas M Grabrucker,Francois V Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medRxiv the preprint server for health sciences (2024)
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Author Statistics

#Papers: 107

#Citation: 2395

H-Index: 30

G-Index: 46

Sociability: 8

Diversity: 3

Activity: 45

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