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Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Jepsen WM, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, Bilagody C, De Both M, Gupta R, Naymik M, Pandey R, Piras IS, Sanchez-Castillo M, Rangasamy S, Narayanan V, Huentelman MJ. Jepsen WM, et al. Among authors: sanchez castillo m. Clin Genet. 2019 Aug;96(2):183-185. doi: 10.1111/cge.13580. Epub 2019 Jun 24. Clin Genet. 2019. PMID: 31236915 Free PMC article.
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S. Ramsey K, et al. Among authors: sanchez castillo m. Mol Genet Genomic Med. 2022 Feb;10(2):e1857. doi: 10.1002/mgg3.1857. Epub 2022 Jan 7. Mol Genet Genomic Med. 2022. PMID: 34994087 Free PMC article. No abstract available.
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Among authors: sanchez castillo m. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. Frankel E, et al. Among authors: sanchez castillo m. Cells. 2023 May 21;12(10):1437. doi: 10.3390/cells12101437. Cells. 2023. PMID: 37408271 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: sanchez castillo m. Clin Genet. 2024 May 8. doi: 10.1111/cge.14542. Online ahead of print. Clin Genet. 2024. PMID: 38715525
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, Hassett K, Jepsen WM, Sankaramoorthy A, Stewart TM, Foley JR, Rangasamy S, Huentelman MJ, Narayanan V, Ramsey K. Leung M, et al. Among authors: sanchez castillo m. Rare. 2024;2:100017. doi: 10.1016/j.rare.2023.100017. Epub 2023 Dec 13. Rare. 2024. PMID: 38770537 Free PMC article.
Early protein energy malnutrition impacts life-long developmental trajectories of the sources of EEG rhythmic activity.
Bosch-Bayard J, Razzaq FA, Lopez-Naranjo C, Wang Y, Li M, Galan-Garcia L, Calzada-Reyes A, Virues-Alba T, Rabinowitz AG, Suarez-Murias C, Guo Y, Sanchez-Castillo M, Roger K, Gallagher A, Prichep L, Anderson SG, Michel CM, Evans AC, Bringas-Vega ML, Galler JR, Valdes-Sosa PA. Bosch-Bayard J, et al. Among authors: sanchez castillo m. Neuroimage. 2022 Jul 1;254:119144. doi: 10.1016/j.neuroimage.2022.119144. Epub 2022 Mar 24. Neuroimage. 2022. PMID: 35342003 Free article.
Critical Modulation of Hematopoietic Lineage Fate by Hepatic Leukemia Factor.
Wahlestedt M, Ladopoulos V, Hidalgo I, Sanchez Castillo M, Hannah R, Säwén P, Wan H, Dudenhöffer-Pfeifer M, Magnusson M, Norddahl GL, Göttgens B, Bryder D. Wahlestedt M, et al. Among authors: sanchez castillo m. Cell Rep. 2017 Nov 21;21(8):2251-2263. doi: 10.1016/j.celrep.2017.10.112. Cell Rep. 2017. PMID: 29166614 Free PMC article.
Manganese and Mercury Levels in Water, Sediments, and Children Living Near Gold-Mining Areas of the Nangaritza River Basin, Ecuadorian Amazon.
González-Merizalde MV, Menezes-Filho JA, Cruz-Erazo CT, Bermeo-Flores SA, Sánchez-Castillo MO, Hernández-Bonilla D, Mora A. González-Merizalde MV, et al. Among authors: sanchez castillo mo. Arch Environ Contam Toxicol. 2016 Aug;71(2):171-82. doi: 10.1007/s00244-016-0285-5. Epub 2016 May 12. Arch Environ Contam Toxicol. 2016. PMID: 27173830
16 results