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J

Jacqueline Leonard

children's hospital of philadelphia

23H指数
134论文数
2.1K被引数
收录论文 11
发表时间
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders剪接因子基因SF3B1的从头变异与神经发育障碍有关
errNature Communications
IF15.7
err2026-01-23
err0
errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
err分享
err收藏
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B由eIF3复合体成分基因EIF3A和EIF3B的失活突变引起的心血管、颅面和神经发育障碍
errThe American Journal of Human Genetics
IF0
err2025-09-30
err0
errOAAI
errEsra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie; Luis F. Escobar; Rachel Gosselin; Maria J. Guillen Sacoto; Cynthia D. Haag; Lisa Herzig; Ramanand Jeeneea; Priti Kenia; Konstantinos Kolokotronis; Anna M. Kopps; Christin Kupper; Hayley Lees; Jacqueline Leonard; Jonathan Levy; Rebecca Littlejohn; Demian Mayer; Scott D. McLean; Nikhil Pattani; Laurence Perrin; Véronique Pingault; Chloé Quelin; Emmanuelle Ranza; Anita Rauch; Sara L. Reichert; Joana Rosmaninho-Salgado; Cara Skraban; Sérgio Sousa; Melissa Stuebben; Paolo Zanoni; Raymond H. Kim; Ian C. Scott; Rebekah K. Jobling
err分享
err收藏
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy
errJOURNAL OF PEDIATRICS
IF3.5
err2024-02-01
err3
PREAI
errKeisling, Julia; Bedoukian, Emma; Burstein, Danielle S.; Gaynor, J. William; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Leonard, Jacqueline; Lin, Kimberly Y.; Medne, Livija; Seymour, Christine; Skraban, Cara; Rippert, Alyssa L.; Ahrens-Nicklas, Rebecca C.
err分享
err收藏
When cfDNA screening deceives: A rare case of mosaicism for 46,XX/47,XXY with uniparental isodisomy and genital atypia
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errLeonard, Jacqueline; Kamoun, Camilia; Vogiatzi, Maria; Van Batavia, Jason; Morrow, Leela; Izumi, Kosuke; Wild, K. Taylor; Pyle, Louise
err分享
err收藏
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-03-01
err14
errOAAI
errAngelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N.; Ritter, Alyssa L.; Leonard, Jacqueline M. M.; Savatt, Juliann M.; Douglass, Kristen; Myers, Scott M.; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C. E.; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J.; de Lange, Iris M.; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frederic; Baker, Janice; Fabie, Noelle; Weaver, K.; Shillington, Amelle; Hopkin, Robert J.; Barge-Schaapveld, Daniela Q. C. M.; Al Ruivenkamp, Claudia; Bokenkamp, Regina; Vergano, Samantha; Moro, Maria Noelia Seco; de Bustamante, Aranzazu Diaz; Misra, Vinod K.; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M.; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C.; Lefebvre, Veronique
err分享
err收藏
A Centralized Approach for Practicing Genomic Medicine
errPEDIATRICS
IF6.4
err2020-03-01
err6
errOAAI
errBiswas, Sawona; Medne, Livija; Devkota, Batsal; Bedoukian, Emma; Berrodin, Donna; Izumi, Kosuke; Deardorff, Matthew A.; Tarpinian, Jennifer; Leonard, Jacqueline; Pyle, Loiusa; Gray, Christopher; Montgomery, Jasmine; Williams, Tyrah; Fortunato, Sierra; Weatherly, Jamila; McEldrew, Deborah; Kaur, Manindar; Raible, Sarah E.; Wilkens, Alisha; Spinner, Nancy B.; Skraban, Cara; Krantz, Ian D.
err分享
err收藏
Clinical utility of exome sequencing in infantile heart failure
errGENETICS IN MEDICINE
IF6.2
err2020-02-01
err16
errOAAI
errRitter, Alyssa; Bedoukian, Emma; Berger, Justin H.; Copenheaver, Deborah; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Juusola, Jane; Leonard, Jacqueline; Lin, Kimberly; Medne, Livija; Santani, Avni; Skraban, Cara; Yang, Sandra; Ahrens-Nicklas, Rebecca C.
err分享
err收藏
Cases for Mathematics Teacher Educators: Facilitating Conversations About Inequities in Mathematics Classrooms.
errJOURNAL FOR RESEARCH IN MATHEMATICS EDUCATION
IF3.6
err2018-03-01
err1
PREAI
errJoseph, Nicole M.; Jett, Christopher C.; Leonard, Jacqueline
err分享
err收藏
Preparing Teachers to Engage Rural Students in Computational Thinking Through Robotics, Game Design, and Culturally Responsive Teaching让教师通过机器人技术，游戏设计和文化响应式教学让农村学生参与计算思维
errJOURNAL OF TEACHER EDUCATION
IF4.1
err2017-09-20
err73
errOAAI
errLeonard, Jacqueline; Mitchell, Monica; Barnes-Johnson, Joy; Unertl, Adrienne; Outka-Hill, Jill; Robinson, Roland; Hester-Croff, Carla
err分享
err收藏
Using Robotics and Game Design to Enhance Children's Self-Efficacy, STEM Attitudes, and Computational Thinking Skills使用机器人和游戏设计来增强儿童的自我效能感，STEM态度和计算思维能力
errJOURNAL OF SCIENCE EDUCATION AND TECHNOLOGY
IF5.5
err2016-06-04
err185
PREAI
errLeonard, Jacqueline; Buss, Alan; Gamboa, Ruben; Mitchell, Monica; Fashola, Olatokunbo S.; Hubert, Tarcia; Almughyirah, Sultan
err分享
err收藏
The Nuances and Complexities of Teaching Mathematics for Cultural Relevance and Social Justice
errJOURNAL OF TEACHER EDUCATION
IF4.1
err2010-03-11
err156
PREAI
errLeonard, Jacqueline; Brooks, Wanda; Barnes-Johnson, Joy; Berry, Robert Q., III
err分享
err收藏

研究方向

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合作学者
合作期刊
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Patrick Sulem
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J
J. William Gaynor
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