1. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. Issue 3 (30th March 2017) Authors: Gripp, K.W.; Kolbe, V.; Brandenstein, L.I.; Rosenberger, G. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. Issue 5 (19th April 2017) Authors: Gripp, K.W.; Baker, L.; Kandula, V.; Piatt, J.; Walter, A.; Chen, Z.; Messiaen, L. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy. Issue 5 (16th December 2016) Authors: Pode‐Shakked, B.; Barash, H.; Ziv, L.; Gripp, K.W.; Flex, E.; Barel, O.; Carvalho, K.S.; Scavina, M.; Chillemi, G.; Niceta, M.; Eyal, E.; Kol, N.; Ben‐Zeev, B.; Bar‐Yosef, O.; Marek‐Yagel, D.; Bertini, E.; Duker, A.L.; Anikster, Y.; Tartaglia, M.; Raas‐Rothschild, A. Journal: Clinical genetics Issue: Volume 91:Issue 5(2017) Page Start: 725 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗