1. Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. Issue 6 (30th January 2017) Authors: Vivero, M.; Cho, M.T.; Begtrup, A.; Wentzensen, I.M.; Walsh, L.; Payne, K.; Zarate, Y.A.; Bosanko, K.; Schaefer, G.B.; DeBrosse, S.; Pollack, L.; Mason, K.; Retterer, K.; DeWard, S.; Juusola, J.; Chung, W.K. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 929 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Issue 2 (23rd January 2017) Authors: Stern, D.; Cho, M.T.; Chikarmane, R.; Willaert, R.; Retterer, K.; Kendall, F.; Deardorff, M.; Hopkins, S.; Bedoukian, E.; Slavotinek, A.; Schrier Vergano, S.; Spangler, B.; McDonald, M.; McConkie‐Rosell, A.; Burton, B.K.; Kim, K.H.; Oundjian, N.; Kronn, D.; Chandy, N.; Baskin, B. Journal: Clinical genetics Issue: Volume 92:Issue 2(2017) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Issue 5 (29th September 2016) Authors: Webster, R.; Cho, M.T.; Retterer, K.; Millan, F.; Nowak, C.; Douglas, J.; Ahmad, A.; Raymond, G.V.; Johnson, M.R.; Pujol, A.; Begtrup, A.; McKnight, D.; Devinsky, O.; Chung, W.K. Journal: Clinical genetics Issue: Volume 91:Issue 5(2017) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018) Authors: van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1000 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. Issue 5 (13th March 2018) Authors: Wynn, J.; Ottman, R.; Duong, J.; Wilson, A.L.; Ahimaz, P.; Martinez, J.; Rabin, R.; Rosen, E.; Webster, R.; Au, C.; Cho, M.T.; Egan, C.; Guzman, E.; Primiano, M.; Shaw, J.E.; Sisson, R.; Klitzman, R.L.; Appelbaum, P.S.; Lichter‐Konecki, U.; Anyane‐Yeboa, K. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1039 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Issue 4 (7th January 2018) Authors: Powis, Z.; Farwell Hagman, K.D.; Mroske, C.; McWalter, K.; Cohen, J.S.; Colombo, R.; Serretti, A.; Fatemi, A.; David, K.L.; Reynolds, J.; Immken, L.; Nagakura, H.; Cunniff, C.M.; Payne, K.; Barbaro‐Dieber, T.; Gripp, K.W.; Baker, L.; Stamper, T.; Aleck, K.A.; Jordan, E.S. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗