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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan; Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Santiago-Sim T, et al. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343629 Free PMC article.
Orbital nodular fasciitis in child with biallelic germline RBL2 variant.
Rips J, Abu-Libdeh B, Koplewitz BZ, Kehat-Ophir S, Frenkel S, Elpeleg O, Harel T. Rips J, et al. Among authors: abu libdeh b. Eur J Med Genet. 2022 Jun;65(6):104513. doi: 10.1016/j.ejmg.2022.104513. Epub 2022 Apr 26. Eur J Med Genet. 2022. PMID: 35487417
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y. Steg Saban O, et al. Among authors: abu libdeh b. Eur J Med Genet. 2022 Jun;65(6):104518. doi: 10.1016/j.ejmg.2022.104518. Epub 2022 May 9. Eur J Med Genet. 2022. PMID: 35550444
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
47 results