Stephanie DiTroia

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 12

Top Topics

Attention Deficit Hyperactivity Disorder

Intellectual Disability

Duchenne Muscular Dystrophy

Top Venues

bioRxiv : the preprint server for biology

medRxiv : the preprint server for health sciences

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Jessica Xiao-Ling Chong, Seth I Berger, Samantha Baxter, Erica D Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, null null, Michael J Bamshad, Michael J Bamshad
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv : the preprint server for biology (2024)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanbattista Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos A Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill Anne Rosenfeld, Laurence Olivier-Faivre, Frédéric Tran Mau Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal Morel, Jordan Lerner- Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Sander Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2023)
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Mahshid S Azamian, Casie A Genetti, Pankaj B Agrawal, Jonathan Picker, Monica Hsiung Wojcik, Mauricio R Delgado, Sally-Ann Lynch, Stephen W Scherer, Jennifer L Howe, Carlos A Bacino, Stephanie DiTroia, Grace E VanNoy, Anne H O'Donnell-Luria, Seema R Lalani, William D Graf, Jill Anne Rosenfeld, Evan E Eichler, Rachel K Earl, Daryl A Scott
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Human mutation 43 (4) (2022)
Natja Haag, Ene Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H M Lai, Maggie Brett, Ganeshwaran H Mochida, Stephanie DiTroia, Lynn Pais, Jennifer E Neil, Muna Al-Saffar, Laila Bastaki, Christopher A Walsh, Ingo Kurth, Cordula Knopp
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. European journal of human genetics : EJHG 29 (11) (2021)