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Page 1
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: mizerik e. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
TPI deficiency: A case report and review of the literature.
Williams A, Weisz-Hubshman M, Rossi V, Bland E, Mizerik E, Luo X, Hillman PR, Shields K, Scaglia F. Williams A, et al. Among authors: mizerik e. Mol Genet Metab. 2025 Sep-Oct;146(1-2):109227. doi: 10.1016/j.ymgme.2025.109227. Epub 2025 Aug 24. Mol Genet Metab. 2025. PMID: 40897044 Review.
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.
Rossi V, Brooks D, Dai H, Mizerik E, Salazar K, Davila-Williams D, Ben-Moshe Y, Lalani SR, Elsea SH, Gijavanekar C, Scott DA, Machol K, Bekheirnia MR, Scaglia F. Rossi V, et al. Among authors: mizerik e. Am J Med Genet A. 2025 Nov;197(11):e64177. doi: 10.1002/ajmg.a.64177. Epub 2025 Jul 9. Am J Med Genet A. 2025. PMID: 40631390
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947 Free PMC article.
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Hanchard NA, Kanca O, Wangler MF, Bellen HJ, Lee BH; Baylor College of Medicine Center for Precision Medicine Models; Yamamoto S, Machol K. Mok JW, et al. Among authors: mizerik e. Genet Med. 2025 Jul;27(7):101429. doi: 10.1016/j.gim.2025.101429. Epub 2025 Apr 10. Genet Med. 2025. PMID: 40221893 Free PMC article.
Family Lore, a Variant of Uncertain Significance, and CADASIL.
Duarte R, Vossaert L, Darilek SA, Rose C, Schauer E, Parobek C, Bland E, Machol K, Mizerik E, Murali CN. Duarte R, et al. Among authors: mizerik e. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32117. doi: 10.1002/ajmg.c.32117. Epub 2024 Oct 20. Am J Med Genet C Semin Med Genet. 2024. PMID: 39428697 Free PMC article.
24 results