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Items: 3

Select item 58389841.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J. Rodenburg, Dzhamilja Safiulina, Tim M. Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B. Haack, Katrin Õunap

Eur J Hum Genet. 2018 Mar; 26(3): 407–419. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0001-6

PMCID:: PMC5838984

Abstract Article PDF–1.8M

Select item 45649882.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

Am J Hum Genet. 2015 Sep 3; 97(3): 457–464. Published online 2015 Aug 20. doi: 10.1016/j.ajhg.2015.07.014