1. Autism spectrum disorders: The quest for genetic syndromes1. Issue 4 (3rd May 2013) Authors: Zafeiriou, Dimitrios I.; Ververi, Athina; Dafoulis, Vaios; Kalyva, Efrosini; Vargiami, Euthymia Journal: American journal of medical genetics Issue: Volume 162:Issue 4(2013) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotype of TAB2 variants and literature review. Issue 11 (16th August 2022) Authors: Woods, Emily; Marson, Imogen; Coci, Emanuele; Spiller, Michael; Kumar, Ajith; Brady, Angela; Homfray, Tessa; Fisher, Richard; Turnpenny, Peter; Rankin, Julia; Kanani, Farah; Platzer, Konrad; Ververi, Athina; Emmanouilidou, Eleftheria; Bourboun, Nourxan; Giannakoulas, George; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3331 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Issue 4 (6th September 2022) Authors: Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Våtevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, T... Journal: Human molecular genetics Issue: Volume 32:Issue 4(2023) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement. Issue 2 (6th March 2020) Authors: Nemani, Tarishi; Steel, Dora; Kaliakatsos, Marios; DeVile, Catherine; Ververi, Athina; Scott, Richard; Getov, Spas; Sudhakar, Sniya; Male, Alison; Mankad, Kshitij; Muntoni, Francesco; Reilly, Mary M; Kurian, Manju A; Carr, Lucinda; Munot, Pinki Journal: Journal of the peripheral nervous system Issue: Volume 25:Issue 2(2020) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Lethal COG6‐CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?. Issue 2 (19th January 2022) Authors: Ververi, Athina; Stathopoulou, Theodora; Kontou, Aggeliki; Farini, Maria; Vlahou, Georgia; Demiris, Nikolaos; Sarafidis, Kosmas Journal: Pediatric dermatology Issue: Volume 39:Issue 2(2022) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. (30th April 2016) Authors: Vargiami, Euthymia; Ververi, Athina; Al-Mutawa, Hamda; Gioula, Georgia; Gerou, Spyridon; Rouvalis, Fotios; Kambouris, Marios; Zafeiriou, Dimitrios I. Other Names: Suri Mohnish Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. (20th March 2020) Authors: Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elain... Journal: Human molecular genetics Issue: Volume 29:Number 11(2020) Page Start: 1900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype. Issue 10 (19th May 2022) Authors: Ververi, Athina; Laidou, Stamatia; Chatzidimitriou, Anastasia; Gidaris, Dimos; Mataftsi, Asimina; Kozeis, Nikolaos; Fidani, Liana; Zafeiriou, Dimitrios Ioannis Journal: Journal of dermatology Issue: Volume 49:Issue 10(2022) Page Start: e381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Restrictive dermopathy due to ZMPSTE24 deficiency. Issue 2 (17th April 2023) Authors: Ververi, Athina; Babatseva, Evgeniya; Mitsiakos, Georgios; Karagiannopoulou, Georgia; Malakozi, Marina; Patsatsi, Aikaterini; Diamanti, Elisavet; Garg, Abhimanyu Journal: Clinical dysmorphology Issue: Volume 32:Issue 2(2023) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome. Issue 3 (19th December 2013) Authors: Vargiami, Euthymia; Ververi, Athina; Kyriazi, Maria; Papathanasiou, Evangelia; Gioula, Georgia; Gerou, Spyridon; Al‐Mutawa, Hamda; Kambouris, Marios; Zafeiriou, Dimitrios I. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 764 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗