Publications

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Journal Article
Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ et al..  2014.  Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.. Am J Hum Genet. 94(6):870-83.
Hettige NC, Manzano-Vargas K, Jefri M, Ernst C.  2017.  Strategies to advance drug discovery in rare monogenic intellectual disability syndromes.. Int J Neuropsychopharmacol.
Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, Wu H, Silveira H, Théroux J-F, Moquin L et al..  2020.  Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells.. Stem Cells Transl Med. 9(6):697-712.
Ernst C.  2020.  A roadmap for neurodevelopmental disease modeling for non-stem cell biologists.. Stem Cells Transl Med. 9(5):567-574.
Bell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TPan, Ernst C.  2017.  A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.. Stem Cells Transl Med. 6(3):886-896.
Ernst C.  2016.  Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.. Trends Neurosci. 39(5):290-9.
Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG et al..  2017.  Potential molecular consequences of transgene integration: The R6/2 mouse example.. Sci Rep. 7:41120.
Lutz P-E, Chay M-A, Pacis A, Chen GG, Aouabed Z, Maffioletti E, Théroux J-F, Grenier J-C, Yang J, Aguirre M et al..  2021.  Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation.. Nat Commun. 12(1):1132.
W Farmer T, Abrahamsson T, Chierzi S, Lui C, Zaelzer C, Jones EV, Bally BPonroy, Chen GG, Théroux J-F, Peng J et al..  2016.  Neurons diversify astrocytes in the adult brain through sonic hedgehog signaling.. Science. 351(6275):849-54.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  2019.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.. Am J Hum Genet. 104(5):815-834.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  2019.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics.
Gigek CO, Chen ES, Ota VK, Maussion G, Peng H, Vaillancourt K, Diallo AB, Lopez JP, Crapper L, Vasuta C et al..  2015.  A molecular model for neurodevelopmental disorders.. Transl Psychiatry. 5:e565.
Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, Vaillancourt K, Lopez JP, Crapper L, Poujol R et al..  2014.  Molecular convergence of neurodevelopmental disorders.. Am J Hum Genet. 95(5):490-508.
Vaillancourt K, Chen GG, Fiori L, Maussion G, Yerko V, Théroux J-F, Ernst C, Labonte B, Calipari E, Nestler EJ et al..  2021.  Methylation of the tyrosine hydroxylase gene is dysregulated by cocaine dependence in the human striatum.. iScience. 24(10):103169.
Chen GG, Gross JA, Lutz P-E, Vaillancourt K, Maussion G, Bramoulle A, Théroux J-F, Gardini ES, Ehlert U, Bourret G et al..  2017.  Medium throughput bisulfite sequencing for accurate detection of 5-methylcytosine and 5-hydroxymethylcytosine.. BMC Genomics. 18(1):96.
Bell S, Kolobova I, Crapper L, Ernst C.  2016.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.. Mol Syndromol. 7(6):302-311.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, Crapper L, O'Leary LA, Zhang X, Zhang Y et al..  2021.  Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.. Stem Cell Reports. 16(7):1749-1762.
Maussion G, Diallo AB, Gigek CO, Chen ES, Crapper L, Théroux J-F, Chen GG, Vasuta C, Ernst C.  2015.  Investigation of genes important in neurodevelopment disorders in adult human brain.. Hum Genet. 134(10):1037-53.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Implication of LRRC4C and DPP6 in neurodevelopmental disorders.. Am J Med Genet A. 173(2):395-406.
Hettige NC, Ernst C.  2019.   Dose in Brain Development.. Front Pediatr. 7:482.
Vaillancourt K, Ernst C, Mash D, Turecki G.  2017.  DNA Methylation Dynamics and Cocaine in the Brain: Progress and Prospects.. Genes (Basel). 8(5)
Bell S, Maussion G, Jefri M, Peng H, Théroux J-F, Silveira H, Soubannier V, Wu H, Hu P, Galat E et al..  2018.  Disruption of GRIN2B Impairs Differentiation in Human Neurons.. Stem Cell Reports. 11(1):183-196.
Merner N, d'Arc BForgeot, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L et al..  2016.  A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.. Am J Med Genet A. 170A(5):1225-35.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Cover Image, Volume 173A, Number 2, February 2017.. Am J Med Genet A. 173(2):i.
Crapper L, Ernst C.  2015.  Comparative analysis of self-injury in people with psychopathology or neurodevelopmental disorders.. Pediatr Clin North Am. 62(3):619-31.

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