1. Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study. Issue 1 (15th November 2019) Authors: Bojanek, Erin K.; Mosconi, Matthew W.; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin H. Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. Issue 6 (13th April 2017) Authors: Sagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J.; Macmillan, Carol; Cook, Edwin H. Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021) Authors: von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa... Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗