Azza Thamer Althagafi (Azza Althagafi)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 4

Top Topics

Intellectual Disability

Endoplasmic Reticulum

Autism Spectrum Disorder

Top Venues

Bioinformatics (Oxford, England)

medRxiv : the preprint server for health sciences

Clinical genetics

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

Publications

Azza Thamer Althagafi, Fernando Zhapa-Camacho, Hoehndorf Robert
Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning. Bioinformatics (Oxford, England) 40 (5) (2024)
Azza Thamer Althagafi, Fernando Zhapa-Camacho, Hoehndorf Robert
Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning. Bioinformatics (Oxford, England) 40 (5) (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)
Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Thamer Althagafi, Senay Kafkas, Lamia Alsubaie, Muhammad Talal Alrifai, Robert Hoehndorf, Ahmed Alfares, Majid Alfadhel
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clinical genetics 98 (6) (2020)