Publications

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.

M Ross E, Mason CE, Finnell RH.  2017.  Genomic approaches to the assessment of human spina bifida risk.. Birth Defects Res. 109(2):120-128.

Sudarov A, Zhang X-J, Braunstein L, LoCastro E, Singh S, Taniguchi Y, Raj A, Shi S-H, Moore H, M Ross E.  2017.  Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition.. Biol Psychiatry.

Akimova D, Wlodarczyk BJ, Lin Y, M Ross E, Finnell RH, Chen Q, Gross SS.  2017.  Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.. Birth Defects Res. 109(2):106-119.

Elsaid MFawzi, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA et al..  2017.  Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.. Ann Neurol. 81(1):68-78.

Bendriem RM, M Ross E.  2017.  Wiring the Human Brain: A User's Handbook.. Neuron. 95(3):482-485.

Gupta I, Collier PG, Haase B, Mahfouz A, Joglekar A, Floyd T, Koopmans F, Barres B, Smit AB, Sloan SA et al..  2018.  Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells.. Nat Biotechnol.

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.

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.  Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.

Wolujewicz P, M Ross E.  2019.  The search for genetic determinants of human neural tube defects.. Curr Opin Pediatr.

Wolujewicz P, M Ross E.  2019.  The search for genetic determinants of human neural tube defects.. Curr Opin Pediatr. 31(6):739-746.

Bendriem RM, Singh S, Aleem AAbdel, Antonetti DA, M Ross E.  2019.  Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex.. Elife. 8

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.

Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E.  2021.  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Aleem AAbdel, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y et al..  2021.  Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.. Proc Natl Acad Sci U S A. 118(51)

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.

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.

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.

A Banday R, Stanifer ML, Florez-Vargas O, Onabajo OO, Papenberg BW, Zahoor MA, Mirabello L, Ring TJ, Lee C-H, Albert PS et al..  2022.  Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.. Nat Genet.

Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.

Allen M, Huang BS, Notaras MJ, Lodhi A, Barrio-Alonso E, Lituma PJ, Wolujewicz P, Witztum J, Longo F, Chen M et al..  2022.  Spontaneous generation of ASD astrocytes.. Mol Psychiatry. 27(5):2369.