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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: straussberg r. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Ambrozkiewicz MC, Borisova E, Schwark M, Ripamonti S, Schaub T, Smorodchenko A, Weber AI, Rhee HJ, Altas B, Yilmaz R, Mueller S, Piepkorn L, Horan ST, Straussberg R, Zaqout S, Jahn O, Dere E, Rosário M, Boehm-Sturm P, Borck G, Willig KI, Rhee J, Tarabykin V, Kawabe H. Ambrozkiewicz MC, et al. Among authors: straussberg r. Mol Psychiatry. 2021 Jun;26(6):1980-1995. doi: 10.1038/s41380-020-0714-8. Epub 2020 Apr 6. Mol Psychiatry. 2021. PMID: 32249816
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. Shao DD, et al. Among authors: straussberg r. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
Seventeen novel mutations that cause profound biotinidase deficiency.
Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J. Wolf B, et al. Among authors: straussberg r. Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x. Mol Genet Metab. 2002. PMID: 12359137
163 results