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The Journal of Experimental Medicine|June 1, 2016
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LATBaerbel Keller, Irina Zaidman, O Sascha Yousefi, et al.JIMD Reports|August 5, 2015
Transaldolase Deficiency: A New Case Expands the Phenotypic SpectrumEhud Banne, Vardiella Meiner, Avraham Shaag, et al.Journal of Medical Genetics|October 4, 2016
Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disabilitySimon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, et al.American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.Journal of Clinical Immunology|April 21, 2015
Enteroviral Infection in a Patient with BLNK Adaptor Protein DeficiencyAdeeb NaserEddin, Oded Shamriz, Baerbel Keller, et al.Clinical Immunology (Orlando, Fla.)|May 2, 2015
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutationShoshana Revel-Vilk, Ute Fischer, Bärbel Keller, et al.Journal of Medical Genetics|November 2, 2016
Congenital valvular defects associated with deleterious mutations in the <i>PLD1</i> geneAsaf Ta-Shma, Kai Zhang, Ekaterina Salimova, et al.Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.Blood|November 15, 2012
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathyYoram Nevo, Bruria Ben-Zeev, Adi Tabib, et al.Proceedings of the National Academy of Sciences of the United States of America|August 27, 2020
A mutation in POLR3E impairs antiviral immune response and RNA polymerase IIIAravind Ramanathan, Michael Weintraub, Natalie Orlovetskie, et al.Pageof 10