Publications

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Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S et al.. 2014. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.. Nat Genet. 46(5):510-515.

Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAndrea Pim, Cabrera RM, Lin YLinda, Wlodarczyk BJ, Shaw GM et al.. 2022. CIC missense variants contribute to susceptibility for spina bifida.. Hum Mutat.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al.. 2020. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al.. 2019. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.

Allen M, Huang BS, Notaras MJ, Lodhi A, Barrio-Alonso E, Lituma PJ, Wolujewicz P, Witztum J, Longo F, Chen M et al.. 2022. Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling.. Mol Psychiatry.

Vo ML, Levy T, Lakhani S, Wang C, M Ross E. 2022. Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.. Mol Genet Genomic Med. :e1906.