Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Authors: Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

Subject Terms: Long-read sequencing, Autozygome, STX3, ABHD12, C1orf109, FLVCR1, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/fd9de43c2bca4f7999135a735e07781d

Ubiquitin ligases HUWE1 and NEDD4 cooperatively control signal-dependent PRC2-Ezh1α/β-mediated adaptive stress response pathway in skeletal muscle cells

Authors: Peng Liu, Muhammad Shuaib, Huoming Zhang, Seba Nadeef, Valerio Orlando

Source: Epigenetics & Chromatin, Vol 12, Iss 1, Pp 1-13 (2019)

Subject Terms: HUWE1, NEDD4, Polycomb, Ubiquitination, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-8935

Access URL: https://doaj.org/article/be85711e412b4c5586a9dbe74856e14c