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Page 1
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.
Ozlu C, Adams RM, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Spelbrink EM, Brown TL, Nye K, Liu JS, Bailey RM, Goodspeed K, Porter BE. Ozlu C, et al. Among authors: kavanaugh bc. Dev Med Child Neurol. 2024 Dec 22. doi: 10.1111/dmcn.16218. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39710583
Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.
Adams RM, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown TL, Nye K, Liu J, Porter BE, Goodspeed K, Bailey RM. Adams RM, et al. Among authors: kavanaugh bc. Genes (Basel). 2024 Oct 18;15(10):1338. doi: 10.3390/genes15101338. Genes (Basel). 2024. PMID: 39457462 Free PMC article.
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Pescosolido MF, et al. Among authors: kavanaugh bc. Mol Neuropsychiatry. 2019 Apr;5(2):98-108. doi: 10.1159/000496341. Epub 2019 Mar 6. Mol Neuropsychiatry. 2019. PMID: 31192222 Free PMC article.
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. Ouyang Q, et al. Among authors: kavanaugh bc. Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30. Hum Genet. 2019. PMID: 31471722 Free PMC article.
Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI-CART Study.
McCormick CEB, Kavanaugh BC, Sipsock D, Righi G, Oberman LM, Moreno De Luca D, Gamsiz Uzun ED, Best CR, Jerskey BA, Quinn JG, Jewel SB, Wu PC, McLean RL, Levine TP, Tokadjian H, Perkins KA, Clarke EB, Dunn B, Gerber AH, Tenenbaum EJ, Anders TF; Rhode Island Consortium for Autism Research and Treatment (RI-CART); Sheinkopf SJ, Morrow EM. McCormick CEB, et al. Among authors: kavanaugh bc. Autism Res. 2020 Mar;13(3):474-488. doi: 10.1002/aur.2261. Epub 2020 Jan 20. Autism Res. 2020. PMID: 31957984 Free PMC article.
44 results