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Seabra CM, Aneichyk T, Erdin S, et al. (2020) Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Molecular Autism. 11: 45
Long JD, Lee JM, Aylward EH, et al. (2018) Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. American Journal of Human Genetics
Lee JM, Chao MJ, Harold D, et al. (2017) A modifier of Huntington's disease onset at the MLH1 locus. Human Molecular Genetics. 26: 3859-3867
Seabra CM, Szoko N, Erdin S, et al. (2017) A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. American Journal of Medical Genetics. Part A
Maussion G, Cruceanu C, Rosenfeld JA, et al. (2016) Implication of LRRC4C and DPP6 in neurodevelopmental disorders. American Journal of Medical Genetics. Part A
Rodan LH, Cohen J, Fatemi A, et al. (2016) A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. European Journal of Human Genetics : Ejhg
Ramos EM, Gillis T, Mysore JS, et al. (2015) Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 135-43
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, et al. (2015) MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human Molecular Genetics. 24: 2375-89
Lee JM, Wheeler VC, Chao MJ, et al. (2015) Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease Cell. 162: 516-526
Jones L, Gusella J, MacDonald M, et al. (2014) A03 Genetic Modifiers Affecting The Age At Motor Onset In Huntington’s Disease Journal of Neurology, Neurosurgery, and Psychiatry. 85