1. A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement. Issue 1 (16th July 2021) Authors: Douzgou, Sofia; Rawson, Myfanwy; Baselga, Eulalia; Danielpour, Moise; Faivre, Laurence; Kashanian, Alon; Keppler‐Noreuil, Kim M.; Kuentz, Paul; Mancini, Grazia M. S.; Maniere, Marie‐Cecile; Martinez‐Glez, Victor; Parker, Victoria E.; Semple, Robert K.; Srivastava, Siddharth; Vabres, Pierre; De Wi... Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Agenesis of the corpus callosum: A clinical approach to diagnosis. Issue 2 (27th May 2014) Authors: Palmer, Elizabeth Emma; Mowat, David; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 166:Issue 2(2014) Page Start: 184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Bi‐allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. Issue 3 (17th January 2018) Authors: Ruggeri, Gaia; Timms, Andrew E.; Cheng, Chi; Weiss, Avery; Kollros, Peter; Chapman, Teresa; Tully, Hannah; Mirzaa, Ghayda M. Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cerebellar hypoplasia: Differential diagnosis and diagnostic approach. Issue 2 (16th May 2014) Authors: Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 166:Issue 2(2014) Page Start: 211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. Issue 11 (31st July 2018) Authors: Piacitelli, Andrew M.; Jensen, Dana M.; Brandling‐Bennett, Heather; Gray, Megan Mariner; Batra, Maneesh; Gust, Juliane; Thaker, Ameet; Paschal, Catherine; Tsuchiya, Karen; Pritchard, Colin C.; Perkins, Jonathan; Mirzaa, Ghayda M.; Bennett, James T. Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Issue 11 (12th August 2014) Authors: Mirzaa, Ghayda M.; Enyedi, Laura; Parsons, Gretchen; Collins, Sarah; Medne, Livija; Adams, Carissa; Ward, Thomas; Davitt, Bradley; Bicknese, Alma; Zackai, Elaine; Toriello, Helga; Dobyns, William B.; Christian, Susan Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2879 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Congenital microcephaly. Issue 2 (9th May 2014) Authors: Alcantara, Diana; O'Driscoll, Mark; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 166:Issue 2(2014) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879–86". Issue 2 (14th November 2015) Authors: Mirzaa, Ghayda M.; Collins, Sarah; Dobyns, William B. Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy. Issue 12 (4th December 2018) Authors: Bozarth, Xiuhua; Dines, Jennifer N.; Cong, Qian; Mirzaa, Ghayda M.; Foss, Kimberly; Lawrence Merritt, J.; Thies, Jenny; Mefford, Heather C.; Novotny, Edward Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗