Year |
Citation |
Score |
2021 |
Lizarraga SB, Ma L, Maguire AM, van Dyck LI, Wu Q, Ouyang Q, Kavanaugh BC, Nagda D, Livi LL, Pescosolido MF, Schmidt M, Alabi S, Cowen MH, Brito-Vargas P, Hoffman-Kim D, et al. Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies. Science Translational Medicine. 13. PMID 33568516 DOI: 10.1126/scitranslmed.aaw0682 |
0.64 |
|
2020 |
Moreno-De-Luca D, Kavanaugh BC, Best CR, Sheinkopf SJ, Phornphutkul C, Morrow EM. Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample. Jama Psychiatry. PMID 32401282 DOI: 10.1001/jamapsychiatry.2020.0950 |
0.64 |
|
2020 |
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, et al. Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI-CART Study. Autism Research : Official Journal of the International Society For Autism Research. PMID 31957984 DOI: 10.1002/aur.2261 |
0.64 |
|
2019 |
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, et al. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. Human Genetics. PMID 31471722 DOI: 10.1007/s00439-019-02057-x |
0.64 |
|
2019 |
Kavanaugh BC, Warren EB, Baytas O, Schmidt M, Merck D, Buch K, Liu JS, Phornphutkul C, Caruso P, Morrow EM. Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. American Journal of Medical Genetics. Part A. PMID 31403263 DOI: 10.1002/ajmg.a.61322 |
0.64 |
|
2019 |
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Complex Neurological Phenotype in Female Carriers of Mutations. Molecular Neuropsychiatry. 5: 98-108. PMID 31192222 DOI: 10.1159/000496341 |
0.64 |
|
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