1. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome. Issue 21 (14th June 2021) Authors: Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Fosse, Johanna Hol; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldse... Journal: Human molecular genetics Issue: Volume 30:Issue 21(2021) Page Start: 1919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection. Issue 8 (24th July 2022) Authors: Thomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler‐Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; Verrotti di Pianella, Alberto; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Robert... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 8(2022) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Case Report of Subdural Hematoma in a Patient With Sturge–Weber Syndrome and Literature Review: Questions and Implications for Therapy. (May 2013) Authors: Lopez, Jonathan; Yeom, Kristen W.; Comi, Anne; Van Haren, Keith Journal: Journal of child neurology Issue: Volume 28:Number 5(2013) Page Start: 672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome. Issue 4 (29th January 2023) Authors: Yeom, SangEun; Cohen, Bernard; Weiss, Clifford R.; Montano, Carolina; Wohler, Elizabeth; Sobreira, Nara; Hammill, Adrienne M.; Comi, Anne Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 983 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Intellectual and adaptive functioning in Sturge-Weber Syndrome. Issue 6 (17th August 2016) Authors: Kavanaugh, Brian; Sreenivasan, Aditya; Bachur, Catherine; Papazoglou, Aimilia; Comi, Anne; Zabel, T. Andrew Journal: Child neuropsychology Issue: Volume 22:Issue 6(2016) Page Start: 635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗