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Year Number of Results
2018 2
2019 2
2020 1
2021 2
2022 1
2023 1
2024 0

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Page 1
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B, Stern T, Shekhidem HA, Mizrahi L, Rosh I, Stern Y, Ofer P, Asleh A, Umanah GKE, Jada R, Levy NS, Levy AP, Stern S. Brant B, et al. Mol Psychiatry. 2021 Dec;26(12):7498-7508. doi: 10.1038/s41380-021-01281-0. Epub 2021 Sep 17. Mol Psychiatry. 2021. PMID: 34535765 Free PMC article.
AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
Umanah GKE, Ghasemi M, Yin X, Chang M, Kim JW, Zhang J, Ma E, Scarffe LA, Lee YI, Chen R, Tangella K, McNamara A, Abalde-Atristain L, Dar MA, Bennett S, Cortes M, Andrabi SA, Doulias PT, Ischiropoulos H, Dawson TM, Dawson VL. Umanah GKE, et al. Cell Rep. 2020 Nov 3;33(5):108329. doi: 10.1016/j.celrep.2020.108329. Cell Rep. 2020. PMID: 33147468 Free PMC article.
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Levy NS, et al. Int J Mol Sci. 2019 Jun 21;20(12):3038. doi: 10.3390/ijms20123038. Int J Mol Sci. 2019. PMID: 31234416 Free PMC article. Review.
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP. Rogers EJ, et al. Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019. Front Mol Neurosci. 2019. PMID: 30842726 Free PMC article.
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K. Piard J, et al. Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. Brain. 2018. PMID: 29659731 Free PMC article. No abstract available.