1. A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities. Issue 7 (31st July 2021) Authors: Kaiyrzhanov, Rauan; Zaki, Maha S.; Maroofian, Reza; Dominik, Natalia; Rad, Aboulfazl; Vona, Barbara; Houlden, Henry Journal: Movement disorders clinical practice Issue: Volume 8:Issue 7(2021) Page Start: 1140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Issue 1 (11th November 2020) Authors: Rad, Aboulfazl; Schade‐Mann, Thore; Gamerdinger, Philipp; Yanus, Grigoriy A.; Schulte, Björn; Müller, Marcus; Imyanitov, Evgeny N.; Biskup, Saskia; Löwenheim, Hubert; Tropitzsch, Anke; Vona, Barbara Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Issue 7 (9th June 2022) Authors: Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Bo... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 7(2022) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy. (7th January 2021) Authors: Efthymiou, Stephanie; Dutra‐Clarke, Marina; Maroofian, Reza; Kaiyrzhanov, Rauan; Scala, Marcello; Reza Alvi, Javeria; Sultan, Tipu; Christoforou, Marilena; Tuyet Mai Nguyen, Thi; Mankad, Kshitij; Vona, Barbara; Rad, Aboulfazl; Striano, Pasquale; Salpietro, Vincenzo; Guillen Sacoto, Maria J.; Zaki... Journal: Epilepsia Issue: Volume 62:issue 2(2021) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗