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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246.
Hum Mol Genet. 2023.
PMID: 36190515
Free PMC article.
Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
Alam MS, Cooper B, Farris JD, Haldar K.
Alam MS, et al. Among authors: farris jd.
Sci Rep. 2018 Mar 1;8(1):3875. doi: 10.1038/s41598-018-22162-7.
Sci Rep. 2018.
PMID: 29497113
Free PMC article.
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Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J, Alam MS, Rajashekara AM, Haldar K.
Farris J, et al.
PLoS Genet. 2021 Feb 1;17(2):e1009307. doi: 10.1371/journal.pgen.1009307. eCollection 2021 Feb.
PLoS Genet. 2021.
PMID: 33524012
Free PMC article.
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Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J, Calhoun B, Alam MS, Lee S, Haldar K.
Farris J, et al.
PLoS Comput Biol. 2020 May 18;16(5):e1007871. doi: 10.1371/journal.pcbi.1007871. eCollection 2020 May.
PLoS Comput Biol. 2020.
PMID: 32421718
Free PMC article.
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Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW.
Farris J, et al.
Am J Med Genet A. 2024 May;194(5):e63542. doi: 10.1002/ajmg.a.63542. Epub 2024 Jan 17.
Am J Med Genet A. 2024.
PMID: 38234180
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