Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

mTOR Signaling in Growth Control and Disease

Laplante, M., & Sabatini, D. M. (2012) · Cell · doi:10.1016/j.cell.2012.03.017 · Cited by 8,509 · see citing works

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works

mTOR Signaling in Growth, Metabolism, and Disease

Saxton, R. A., & Sabatini, D. M. (2017) · Cell · doi:10.1016/j.cell.2017.02.004 · Cited by 7,555 · see citing works

mTOR Signaling in Growth, Metabolism, and Disease.

Saxton, R., & Sabatini, D. (2017) · Cell · doi:10.1016/j.cell.2017.03.035 · Cited by 3,889 · see citing works

MAGMA: Generalized Gene-Set Analysis of GWAS Data

de Leeuw, C. A., Mooij, J. M., Heskes, T., & Posthuma, D. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004219 · Cited by 3,653 · see citing works

Neuronal subtype specification in the cerebral cortex

Molyneaux, B. J., Arlotta, P., Menezes, J. R. L., & Macklis, J. D. (2007) · Nature reviews. Neuroscience · doi:10.1038/nrn2151 · Cited by 1,632 · see citing works

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546 · see citing works

A unifying model for mTORC1-mediated regulation of mRNA translation

Thoreen, C. C., Chantranupong, L., Keys, H. R., Wang, T., Gray, N. S., & Sabatini, D. M. (2012) · Nature · doi:10.1038/nature11083 · Cited by 1,477 · see citing works

Culturing nerve cells

Banker, G. A., & Goslin, K. (1998) · Cited by 1,290 · see citing works

Tuberous Sclerosis Complex Gene Products, Tuberin and Hamartin, Control mTOR Signaling by Acting as a GTPase-Activating Protein Complex toward Rheb

Tee, A. R., Manning, B. D., Roux, P. P., Cantley, L. C., & Blenis, J. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00506-2 · Cited by 1,211 · see citing works

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

Tang, G., Gudsnuk, K., Kuo, S.-H., Cotrina, M. L., Rosoklija, G., Sosunov, A., Sonders, M. S., Kanter, E., Castagna, C., Yamamoto, A., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.07.040 · Cited by 1,146 · see citing works

Coordinating ERK/MAPK signalling through scaffolds and inhibitors

Kölch, W. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1743 · Cited by 1,070 · see citing works

Making new contacts: the mTOR network in metabolism and signalling crosstalk

Shimobayashi, M., & Hall, M. N. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3757 · Cited by 1,053 · see citing works

Pten Regulates Neuronal Arborization and Social Interaction in Mice

Kwon, C.-H., Luikart, B. W., Powell, C. M., Zhou, J., Matheny, S. A., Zhang, W., Li, Y., Baker, S. J., & Parada, L. F. (2006) · Neuron · doi:10.1016/j.neuron.2006.03.023 · Cited by 970 · see citing works

Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature · doi:10.1038/nature14101 · Cited by 858 · see citing works

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior · doi:10.1007/s11682-013-9269-5 · Cited by 838 · see citing works

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(12)61134-9 · Cited by 794 · see citing works

Efficient Gene Transfer into the Embryonic Mouse Brain Using in Vivo Electroporation

Saito, T., & Nakatsuji, N. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0439 · Cited by 770 · see citing works

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

French, J. A., Lawson, J. A., Yapici, Z., Ikeda, H., Polster, T., Nabbout, R., Curatolo, P., de Vries, P. J., Dlugos, D. J., Berkowitz, N., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)31419-2 · Cited by 764 · see citing works

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2331 · Cited by 741 · see citing works

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703 · see citing works

Cell-cycle control and cortical development

Dehay, C., & Kennedy, H. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2097 · Cited by 655 · see citing works

Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of Prospective Meta-Analyses of Genome-Wide Association Studies From 5 Cohorts

Psaty, B. M., O'Donnell, C. J., Gudnason, V., Lunetta, K. L., Folsom, A. R., Rotter, J. I., Uitterlinden, A. G., Harris, T. B., Witteman, J. C. M., & Boerwinkle, E. (2009) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.108.829747 · Cited by 599 · see citing works

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Lim, J. S., Kim, W.-I., Kang, H., Kim, S. H., Park, A. H., Park, E. K., Cho, Y., Kim, H. M., Kim, J. A., Kim, J. A., et al. (2015) · Nature Medicine · doi:10.1038/nm.3824 · Cited by 524 · see citing works

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

Meikle, L. M., Pollizzi, K. N., Egnor, A., Kramvis, I., Lane, H. A., Şahin, M., & Kwiatkowski, D. J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0955-08.2008 · Cited by 500 · see citing works

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

Tavazoie, S. F., Alvarez, V. A., Ridenour, D. A., Kwiatkowski, D. J., & Sabatini, B. L. (2005) · Nature Neuroscience · doi:10.1038/nn1566 · Cited by 497 · see citing works

Growth and folding of the mammalian cerebral cortex: from molecules to malformations

Sun, T., & Hevner, R. F. (2014) · Nature reviews. Neuroscience · doi:10.1038/nrn3707 · Cited by 471 · see citing works

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E.-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Löhner, K., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4352 · Cited by 442 · see citing works

Genetic influences on human brain structure: A review of brain imaging studies in twins

Peper, J. S., Brouwer, R. M., Boomsma, D. I., Kahn, R. S., & Pol, H. E. H. (2007) · Human Brain Mapping · doi:10.1002/hbm.20398 · Cited by 429 · see citing works

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

Santini, E., Huynh, T. N., MacAskill, A. F., Carter, A. G., Pierre, P., Ruggero, D., Kaphzan, H., & Klann, E. (2012) · Nature · doi:10.1038/nature11782 · Cited by 376 · see citing works

mTOR signaling and its roles in normal and abnormal brain development

Takei, N., & Nawa, H. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00028 · Cited by 317 · see citing works

The statistical properties of gene-set analysis

de Leeuw, C., Neale, B. M., Heskes, T., & Posthuma, D. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.29 · Cited by 286 · see citing works

Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites

Raab-Graham, K. F., Haddick, P. C. G., Jan, Y. N., & Jan, L. Y. (2006) · Science · doi:10.1126/science.1131693 · Cited by 267 · see citing works

Excessive activation of mTOR in postnatally generated granule cells is sufficient to cause epilepsy

Pun, R. Y. K., Rolle, I. J., LaSarge, C. L., Hosford, B. E., Rosen, J. M., Uhl, J. D., Schmeltzer, S. N., Faulkner, C., Bronson, S. L., Murphy, B. L., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.08.002 · Cited by 266 · see citing works

Neuronal migration disorders

Guerrini, R., & Parrini, E. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.02.008 · Cited by 263 · see citing works

Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures

Goorden, S. M. I., van Woerden, G. M., van der Weerd, L., Cheadle, J. P., & Elgersma, Y. (2007) · Annals of Neurology · doi:10.1002/ana.21317 · Cited by 247 · see citing works

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Mirzaa, G., Campbell, C., Solovieff, N., Goold, C. P., Jansen, L., Menon, S., Timms, A., Conti, V., Biag, J., Adams, C., et al. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.0363 · Cited by 246 · see citing works

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

Nie, D. A., Nardo, A. D., Han, J. M., Baharanyi, H., Kramvis, I., Huynh, T., Dabora, S. L., Codeluppi, S., Pandolfi, P. P., Pasquale, E. B., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2477 · Cited by 243 · see citing works

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Adams, H., Hibar, D., Chouraki, V., Stein, J., Nyquist, P., Rentería, M. E., Trompet, S., Arias-Vásquez, A., Seshadri, S., Desriviéres, S., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4398 · Cited by 238 · see citing works

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

Zeng, L.-H., Rensing, N. R., Zhang, B., Gutmann, D. H., Gambello, M. J., & Wong, M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq491 · Cited by 231 · see citing works

denovo-db: a compendium of humande novovariants

Turner, T. N., Qian, Y., Krumm, N., Huddleston, J., Hoekzema, K., Stessman, H. A. F., Doebley, A.-L., Bernier, R., Nickerson, D. A., & Eichler, E. E. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw865 · Cited by 213 · see citing works

Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function

Bateup, H. S., Takasaki, K. T., Saulnier, J. L., Denefrio, C. L., & Sabatini, B. L. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.1617-11.2011 · Cited by 204 · see citing works

Duration of Rapamycin Treatment Has Differential Effects on Metabolism in Mice

Fang, Y., Westbrook, R., Hill, C., Boparai, R. K., Arum, O., Spong, A., Wang, F., Javors, M. A., Chen, J., Sun, L. Y., et al. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2013.02.008 · Cited by 195 · see citing works

The Interaction between Early Life Epilepsy and Autistic-Like Behavioral Consequences: A Role for the Mammalian Target of Rapamycin (mTOR) Pathway

Talos, D. M., Sun, H., Zhou, X., Fitzgerald, E. C., Jackson, M. C., Klein, P., Lan, V. J., Joseph, A., & Jensen, F. E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035885 · Cited by 182 · see citing works

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

Feliciano, D. M., Su, T. Y., López, J. M., Platel, J., & Bordey, A. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44909 · Cited by 172 · see citing works

Mammalian Target of Rapamycin Complex 1 (mTORC1) and 2 (mTORC2) Control the Dendritic Arbor Morphology of Hippocampal Neurons

Urbańska, M., Góźdź, A., Swiech, L. J., & Jaworski, J. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.374405 · Cited by 149 · see citing works

Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts

Cawthon, R., O'Connell, P., Buchberg, A. M., et al. (1990) · Genomics · doi:10.1016/0888-7543(90)90199-5 · Cited by 145 · see citing works

mTORC1 Targets the Translational Repressor 4E-BP2, but Not S6 Kinase 1/2, to Regulate Neural Stem Cell Self-Renewal In Vivo

Hartman, N. W., Lin, T. V., Zhang, L., Paquelet, G. E., Feliciano, D. M., & Bordey, A. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.09.017 · Cited by 139 · see citing works

Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome

Huang, W.-C., Chen, Y., & Page, D. T. (2016) · Nature Communications · doi:10.1038/ncomms13421 · Cited by 130 · see citing works

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Houge, G., Haesen, D., Vissers, L. E. L. M., Mehta, S., Parker, M. J., Wright, M., Vogt, J., McKee, S., Tolmie, J. L., Cordeiro, N., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci79860 · Cited by 124 · see citing works

Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model

Lozovaya, N., Gataullina, S., Tsintsadze, T. S., Tsintsadze, V., Pallesi‐Pocachard, E., Minlebaev, M., Goriounova, N. A., Buhler, E., Watrin, F., Shityakov, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5563 · Cited by 123 · see citing works

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

Baek, S. T., Copeland, B. R., Yun, E.-J., Kwon, S., Guemez‐Gamboa, A., Schaffer, A. E., Kim, S., Kang, H., Song, S., Mathern, G. W., et al. (2015) · Nature Medicine · doi:10.1038/nm.3982 · Cited by 122 · see citing works

Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement

Hsieh, L. S., Wen, J. H., Claycomb, K. I., Huang, Y., Harrsch, F. A., Naegele, J. R., Hyder, F., Buchanan, G. F., & Bordey, A. (2016) · Nature Communications · doi:10.1038/ncomms11753 · Cited by 116 · see citing works

Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventriclePreprint

Zhou, J., Shrikhande, G., Xu, J., McKay, R. M., Burns, D. K., Johnson, J. E. B., & Parada, L. F. (2011) · Genes & Development · doi:10.1101/gad.16750211 · Cited by 113 · see citing works

Selective Activation of mTORC1 Signaling Recapitulates Microcephaly, Tuberous Sclerosis, and Neurodegenerative Diseases

Kassai, H., Sugaya, Y., Noda, S., Nakao, K., Maeda, T., Kano, M., & Aiba, A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.04.048 · Cited by 107 · see citing works

Frontier of Epilepsy Research - mTOR signaling pathway

Cho, C. (2011) · Experimental & Molecular Medicine · doi:10.3858/emm.2011.43.5.032 · Cited by 92 · see citing works

Sirolimus for epilepsy in children with tuberous sclerosis complex

Overwater, I. E., Rietman, A. B., Heus, K. B., Looman, C. W. N., Rizopoulos, D., Sibindi, T. M., Cherian, P. J., Jansen, F. E., Moll, H. A., Elgersma, Y., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000003077 · Cited by 89 · see citing works

TORC1‐dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice

Abs, E., Goorden, S. M. I., Schreiber, J., Overwater, I. E., Hoogeveen‐Westerveld, M., Bruinsma, C. F., Aganović, E., Borgesius, N. Z., Nellist, M. D., & Elgersma, Y. (2013) · Annals of Neurology · doi:10.1002/ana.23943 · Cited by 82 · see citing works

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Loconte, D. C., Grossi, V., Bozzao, C., Forte, G., Bagnulo, R., Stella, A., Lastella, P., Cutrone, M., Benedicenti, F., Susca, F. C., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0123092 · Cited by 82 · see citing works

Rheb and mTOR Regulate Neuronal Polarity through Rap1B

Li, Y., Werner, H., & Püschel, A. W. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m802431200 · Cited by 78 · see citing works

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

Moon, U. Y., Park, J. Y., Park, R., Cho, J. Y., Hughes, L. J., McKenna, J., Goetzl, L. M., Cho, S., Crino, P. B., Gambello, M. J., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.013 · Cited by 64 · see citing works

Normalizing translation through 4E-BP prevents mTOR-driven cortical mislamination and ameliorates aberrant neuron integration

Lin, T. V., Hsieh, L. S., Kimura, T., Malone, T. J., & Bordey, A. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1605740113 · Cited by 64 · see citing works

In Utero Electroporation as a Tool For Genetic Manipulation In Vivo to Study Psychiatric Disorders

Taniguchi, Y., Young‐Pearse, T. L., Sawa, A., & Kamiya, A. (2011) · The Neuroscientist · doi:10.1177/1073858411399925 · Cited by 62 · see citing works

A human laterality disorder caused by a homozygous deleterious mutation in MMP21

Perles, Z., Moon, S., Ta‐Shma, A., Yaacov, B., Francescatto, L., Edvardson, S., Rein, A. J. J. T., Elpeleg, O. N., & Katsanis, N. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103336 · Cited by 57 · see citing works

Rheb Activation in Subventricular Zone Progenitors Leads to Heterotopia, Ectopic Neuronal Differentiation, and Rapamycin-Sensitive Olfactory Micronodules and Dendrite Hypertrophy of Newborn Neurons

Lafourcade, C., Lin, T. V., Feliciano, D. M., Zhang, L., Hsieh, L. S., & Bordey, A. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.1840-12.2013 · Cited by 51 · see citing works

Multiple components of eIF4F are required for protein synthesis-dependent hippocampal long-term potentiation

Hoeffer, C. A., Santini, E., Ma, T., Arnold, E. C., Whelan, A., Wong, H., Pierre, P., Pelletier, J., & Klann, E. (2012) · Journal of Neurophysiology · doi:10.1152/jn.00342.2012 · Cited by 37 · see citing works

Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex

Sugiura, H., Yasuda, S., Katsurabayashi, S., Kawano, H., Endo, K., Takasaki, K., Iwasaki, K., Ichikawa, M., Kobayashi, T., Hino, O., et al. (2015) · Nature Communications · doi:10.1038/ncomms7842 · Cited by 36 · see citing works

Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay

Hanai, S., Sukigara, S., Dai, H., Owa, T., Horike, S., Otsuki, T., SAITO, T. K., Nakagawa, E., Ikegaya, N., Kaido, T., et al. (2017) · American Journal Of Pathology · doi:10.1016/j.ajpath.2017.01.015 · Cited by 28 · see citing works

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments

Goorden, S. M. I., Abs, E., Bruinsma, C. F., Riemslagh, F. W., van Woerden, G. M., & Elgersma, Y. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv087 · Cited by 19 · see citing works

Gene set analysis for interpreting genetic studies

Pers, T. H. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw249 · Cited by 19 · see citing works

Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy

Wheless, J. W. (2015) · Epilepsy & Behavior Case Reports · doi:10.1016/j.ebcr.2015.06.008 · Cited by 16 · see citing works

mTOR at the nexus of nutrition, growth, ageing and disease

Liu, G. Y., & Sabatini, D. M. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0199-y · Cited by 2,737 · see citing works

Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future

Sakai, C., Ijaz, S., & Hoffman, E. J. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00294 · Cited by 164 · see citing works

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

Gunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., van Erp, T. G. M., Dannemann, M., Vernot, B., Neubauer, S., Guadalupe, T., et al. (2019) · Current Biology · doi:10.1016/j.cub.2018.10.065 · Cited by 117 · see citing works

Malformations of Cerebral Cortex Development: Molecules and Mechanisms

Juric‐Sekhar, G., & Hevner, R. F. (2019) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012418-012927 · Cited by 116 · see citing works

From microcephaly to megalencephaly: determinants of brain size

Pirozzi, F., Nelson, B. R., & Mirzaa, G. (2018) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2018.20.4/gmirzaa · Cited by 110 · see citing works

<scp>GATOR</scp>opathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations

Iffland, P. H., Carson, V., Bordey, A., & Crino, P. B. (2019) · Epilepsia · doi:10.1111/epi.16370 · Cited by 84 · see citing works

Protein phosphatase 2A – structure, function and role in neurodevelopmental disorders

Sandal, P., Jong, C. J., Merrill, R. A., Song, J., & Strack, S. (2021) · Journal of Cell Science · doi:10.1242/jcs.248187 · Cited by 72 · see citing works

The functional and evolutionary impacts of human-specific deletions in conserved elements

Xue, J. R., Mackay-Smith, A., Mouri, K., García, M. F., Dong, M. X., Akers, J. F., Noble, M., Li, X., Lindblad‐Toh, K., Karlsson, E. K., et al. (2023) · Science · doi:10.1126/science.abn2253 · Cited by 69 · see citing works

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies

Nguyen, L. H., & Bordey, A. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.664695 · Cited by 69 · see citing works

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Reshef, Y. A., Finucane, H. K., Kelley, D. R., Gusev, A., Kotliar, D., Ulirsch, J. C., Hormozdiari, F., Nasser, J., O’Connor, L., van de Geijn, B., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0196-7 · Cited by 68 · see citing works

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., et al. (2019) · Human Mutation · doi:10.1002/humu.23822 · Cited by 64 · see citing works

The phenomenal epigenome in neurodevelopmental disorders

Ciptasari, U., & van Bokhoven, H. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa175 · Cited by 60 · see citing works

Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice

Hsieh, L. S., Wen, J. H., Nguyen, L. H., Zhang, L., Getz, S. A., Torres-Reveron, J., Wang, Y., Spencer, D. D., & Bordey, A. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.abc1492 · Cited by 51 · see citing works

RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

Onori, M. P., Koene, L. M. C., Schäfer, C. B., Nellist, M. D., van Velze, M. D. B., Gao, Z., Elgersma, Y., & van Woerden, G. M. (2021) · PLoS Biology · doi:10.1371/journal.pbio.3001279 · Cited by 57 · see citing works

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

van Woerden, G. M., Bos, M., de Konink, C., Distel, B., Trezza, R. A., Shur, N. E., Baranano, K. W., Mahida, S., Chassevent, A., Schreiber, A., et al. (2021) · Human Mutation · doi:10.1002/humu.24176 · Cited by 55 · see citing works

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

Lee, W. S., Baldassari, S., Chipaux, M., Adle‐Biassette, H., Stephenson, S. E. M., Maixner, W. J., Harvey, A. S., Lockhart, P. J., Baulac, S., & Leventer, R. J. (2021) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51286 · Cited by 41 · see citing works

New frontiers in modeling tuberous sclerosis with human stem cell‐derived neurons and brain organoids

Blair, J. D., & Bateup, H. S. (2019) · Developmental Dynamics · doi:10.1002/dvdy.60 · Cited by 37 · see citing works

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Bossuyt, S. N. V., Punt, A. M., de Graaf, I. J., van den Burg, J., Williams, M., Heussler, H., Elgersma, Y., & Distel, B. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab050 · Cited by 36 · see citing works

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Salinas, V., Vega, P., Piccirilli, M. V., Chicco, C., Ciraolo, C. A., Christiansen, S. B., Consalvo, D., Perez-Maturo, J., Medina, N. M., González‐Morón, D., et al. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.11.005 · Cited by 34 · see citing works

FDA-Approved Kinase Inhibitors in Preclinical and Clinical Trials for Neurological Disorders

Lui, A., Vanleuven, J., Perekopskiy, D., Liu, D., Xu, D., Alzayat, O., Elgokhy, T., Do, T., Gann, M., Martin, R. M., et al. (2022) · Pharmaceuticals · doi:10.3390/ph15121546 · Cited by 35 · see citing works

Network‐regulated organ allometry: The developmental regulation of morphological scaling

Vea, I. M., & Shingleton, A. W. (2020) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.391 · Cited by 28 · see citing works

Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells

Ossola, C., & Kalebic, N. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.817218 · Cited by 22 · see citing works

L1 Cell Adhesion Molecule (L1CAM) Expression and Molecular Alterations Distinguish Low-Grade Oncocytic Tumor From Eosinophilic Chromophobe Renal Cell Carcinoma

Alghamdi, M., Chen, J., Jungbluth, A. A., Koutzaki, S. H., Palmer, M. B., Al‐Ahmadie, H. A., Fine, S. W., Gopalan, A., Sarungbam, J., Sirintrapun, S. J., et al. (2024) · Modern Pathology · doi:10.1016/j.modpat.2024.100467 · Cited by 25 · see citing works

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms

Zampeta, F. I., Sonzogni, M., Niggl, E., Lendemeijer, B., Smeenk, H., de Vrij, F. M. S., Kushner, S. A., Distel, B., & Elgersma, Y. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa194 · Cited by 25 · see citing works

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development

Liu, Z., Zhang, N., Zhang, Y., Du, Y., Zhang, T., Li, Z., Wu, J., & Wang, X. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00349 · Cited by 24 · see citing works

Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders

Kaczorowski, J. A., Smith, T. F., Shrewsbury, A. M., Thomas, L. R., Knopik, V. S., & Acosta, M. T. (2020) · Behavior Genetics · doi:10.1007/s10519-020-09991-x · Cited by 24 · see citing works

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.07.005 · Cited by 22 · see citing works

Dendrite growth and the effect of ectopic Rheb expression on cortical neurons

Sokolov, A. M., Seluzicki, C. M., Morton, M. C., & Feliciano, D. M. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.02.021 · Cited by 22 · see citing works

Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway

Moavero, R., Mühlebner, A., Luinenburg, M. J., Craiu, D., Aronica, E., & Curatolo, P. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107713 · Cited by 21 · see citing works

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

Pellikaan, K., van Woerden, G. M., Kleinendorst, L., Rosenberg, A. G. W., Horsthemke, B., Grosser, C., van Zutven, L. J. C. M., van Rossum, E. F. C., van der Lely, A. J., Resnick, J. L., et al. (2021) · Genes · doi:10.3390/genes12060875 · Cited by 19 · see citing works

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Harel, T., Griffin, J. N., Arbogast, T., Monroe, T. O., Palombo, F., Martinelli, M., Seri, M., Pippucci, T., Elpeleg, O. N., & Katsanis, N. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa073 · Cited by 18 · see citing works

Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment

Vasić, V., Jones, M. S. O., Haslinger, D., Knaus, L. S., Schmeißer, M. J., Novarino, G., & Chiocchetti, A. G. (2021) · Genes · doi:10.3390/genes12111746 · Cited by 17 · see citing works

Autism spectrum disorder and brain volume link through a set of mTOR ‐related genes

Arenella, M., Mota, N. R., Teunissen, M. W. A., Brunner, H. G., & Bralten, J. (2023) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.13783 · Cited by 16 · see citing works

The odyssey of complex neurogenetic disorders: From undetermined to positive

Salinas, V., Vega, P., Marsili, L., Perez-Maturo, J., Martínez, N., Zavala, L. J., González‐Morón, D., Medina, N. M., Rodriguez-Quiroga, S. A., Amartino, H. M., et al. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31848 · Cited by 15 · see citing works

Loss of PP2A Disrupts the Retention of Radial Glial Progenitors in the Telencephalic Niche to Impair the Generation for Late-Born Neurons During Cortical Development†

Huang, C., Liu, T., Wang, Q., Hou, W., Zhou, C., Song, Z., Shi, Y. S., Gao, X., Chen, G., Yin, Z., et al. (2020) · Cerebral Cortex · doi:10.1093/cercor/bhaa042 · Cited by 14 · see citing works

The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

Ma, Q., Chen, G., Li, Y., Guo, Z., & Zhang, X. (2023) · Genes & Diseases · doi:10.1016/j.gendis.2023.04.041 · Cited by 17 · see citing works

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Levitin, M. O., Rawlins, L. E., Sánchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C. P., Cambridge, E. L., et al. (2023) · Brain · doi:10.1093/brain/awad231 · Cited by 13 · see citing works

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

Moreno-Corona, N. C., Chentout, L., Poggi, L., Thouenon, R., Masson, C., Parisot, M., Mouël, L. L., Pïcard, C., André‐Schmutz, I., Cavazzana, M., et al. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.688022 · Cited by 13 · see citing works

Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia

Heimer, G., van Woerden, G. M., Barel, O., Marek‐Yagel, D., Kol, N., Munting, J. B., Borghei, M., Atawneh, O., Nissenkorn, A., Rechavi, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23945 · Cited by 10 · see citing works

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

Ritter, L. M., Annear, N. M. P., Baple, E., Ben-Chaabane, L. Y., Bodi, I., Brosson, L., Cadwgan, J., Coslett, B., Crosby, A. H., Davies, D., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03740-1 · Cited by 10 · see citing works

Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life

Cirnigliaro, L., Clericò, L., Russo, L. C., Prato, A., Caruso, M. M., Rizzo, R., & Barone, R. M. E. (2024) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2024.1431693 · Cited by 10 · see citing works

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

Wiel, L., Hampstead, J. E., Venselaar, H., Vissers, L. E. L. M., Brunner, H. G., Pfundt, R., Vriend, G., Veltman, J. A., & Gilissen, C. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.12.001 · Cited by 10 · see citing works

Rapamycin improves the survival of epilepsy model cells by blocking phosphorylation of mTOR base on computer simulations and cellular experiments

Li, K., Cao, J., Gong, Y., Li, X., Wu, M., Qi, Y., Ying, X., Liu, D., Ma, X., & Zhang, X. (2024) · Neurochemistry International · doi:10.1016/j.neuint.2024.105746 · Cited by 10 · see citing works

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

Silva, A. L. T. E., Glaser, T., Griesi‐Oliveira, K., Corrêa-Velloso, J. C., Wang, J. Y. T., Campos, G. D. S., Ulrich, H., Balan, A., Zarrei, M., Higginbotham, E. J., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-01997-9 · Cited by 10 · see citing works

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Reijnders, M. R. F., Seibt, A., Brügger, M., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100838 · Cited by 8 · see citing works

Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array

Heuvelmans, A. M., Onori, M. P., Frega, M., de Hoogen, J. D., Nel, E., Elgersma, Y., & van Woerden, G. M. (2024) · Experimental Neurology · doi:10.1016/j.expneurol.2024.114874 · Cited by 8 · see citing works

Development of a versatile HPLC-based method to evaluate the activation status of small GTPases

Araki, M., Yoshimoto, K., Ohta, M., Katada, T., & Kontani, K. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.101428 · Cited by 6 · see citing works

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencingPreprint

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/545772 · Cited by 8 · see citing works

Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly

Currey, L., Harvey, T. J., Pelenyi, A., Piper, M., & Thor, S. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1586550 · Cited by 8 · see citing works

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

Lecoquierre, F., Punt, A. M., Ebstein, F., Wallaard, I., Verhagen, R. F. M., Studencka‐Turski, M., Duffourd, Y., Moutton, S., Mau-Them, F. T., Philippe, C., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101119 · Cited by 9 · see citing works

A Farnesyltransferase Inhibitor Restores Cognitive Deficits inTsc2+/–Mice through Inhibition of Rheb1

Sugiura, H., Shimada, T., Moriya‐Ito, K., Goto, J.-I., Fujiwara, H., Ishii, R., Shitara, H., Taya, C., Fujii, S., Kobayashi, T., et al. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.0449-21.2022 · Cited by 7 · see citing works

CEGA: a method for inferring natural selection by comparative population genomic analysis across species

Zhao, S., Chi, L., & Chen, H. (2023) · Genome biology · doi:10.1186/s13059-023-03068-8 · Cited by 7 · see citing works

m 6 A ‐ mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly

Nishizaki, S. S., Haghani, N. K., La, G. N., Mariano, N. A. F., Uribe‐Salazar, J. M., Kaya, G., Regester, M., Andrews, D. S., Nordahl, C. W., Amaral, D. G., et al. (2025) · Autism Research · doi:10.1002/aur.3314 · Cited by 6 · see citing works

Corrigendum: Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies

Nguyen, L. H., & Bordey, A. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.715363 · Cited by 6 · see citing works

autoMEA: machine learning-based burst detection for multi-electrode array datasets

Hernandes, V., Heuvelmans, A. M., Gualtieri, V., et al. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1446578 · Cited by 5 · see citing works

Experimental and clinical tests of FDA-approved kinase inhibitors for the treatment of neurological disorders (update 2024)

Aliashrafzadeh, H., Liu, D., Alba, S. D., Akbar, I., Lui, A., Vanleuven, J., Martin, R. M., Wang, Z., & Liu, D. (2025) · Exploration of Drug Science · doi:10.37349/eds.2025.1008116 · Cited by 5 · see citing works

mTOR in Acquired and Genetic Models of Epilepsy

Wong, M., Bordey, A., & Danzer, S. C. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0004 · Cited by 4 · see citing works

Ablation of dysmorphic neurons is a safe and effective treatment for focal cortical dysplasia II

Xu, Y. H., Li, J., Wang, Z., Lu, R., Liu, Y., Wang, M., Li, H., Zhao, R., & Feng, W. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.05.023 · Cited by 3 · see citing works

mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons

Buttermore, E. D., Srinivasan, G. R., Jumo, H., Swanson, A. C., O’Kelly, B., Makhortova, N. R., Şahin, M., & Tzannis, S. T. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1595880 · Cited by 3 · see citing works

Modeling genetic mosaicism of the mammalian target of rapamycin pathway in the cerebral cortex

Feliciano, D. M. (2023) · Frontiers in Mammal Science · doi:10.3389/fmamm.2023.1231778 · Cited by 3 · see citing works

Seizure occurrence in FCD type II is predicted by lesion position and linked to cytoarchitectural alterations

Procházková, N., Olson, C. V. L., Shariati, N., Rozlivková, J. T., Populová, J., Řehořová, M., Kudláček, J., Jiruška, P., & Novák, O. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02166-x · Cited by 2 · see citing works

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains

Fasano, G., Compagnucci, C., Dallapiccola, B., Tartaglia, M., & Lauri, A. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.855786 · Cited by 2 · see citing works

Phosphatase PP2A is Required for CNS Myelination via Proteasome‐Dependent Regulation of Sox10 Expression

Liu, M., Zhang, Y., Teng, X., Wang, R., Liu, Y., Hou, J., Wang, H., Li, Y., Wang, Z., & Chen, G. (2025) · Glia · doi:10.1002/glia.70082 · Cited by 2 · see citing works

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies

Trujillo‐Quintero, J. P., Brunet‐Vega, A., Spataro, N., Petanas, J., Gallego, O., Mateo, F., Pujana, M. Á., & Ruiz, A. (2025) · Clinical Genetics · doi:10.1111/cge.14734 · Cited by 1 · see citing works

Focal postnatal deletion of Tsc2 causes epilepsy

McCoy, C., Dusing, M. R., Jerow, L. G., Winstel, G. C., Zhan, F., Rogers, J. L., Wesley, M., Otten, J. B., Danzer, S. C., & LaSarge, C. L. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1686023 · Cited by 1 · see citing works

Mouse and cellular models of KPTN -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypesPreprint

Levitin, M. O., Rawlins, L. E., Sánchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C. P., Cambridge, E. L., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.07.15.500213 · Cited by 1 · see citing works

Estudo funcional de variantes raras nos genes CACNA1H e RELN: um modelo oligogênico de herança no Transtorno do Espectro Autista

Silva, A. L. T. E. (2020) · doi:10.11606/d.41.2020.tde-30112020-001426

Clinical and Molecular Overview of Cortical Malformations

Pravatà, V. M., Gressèns, P., & andCappello, S. (2023) · Wiley eBooks · doi:10.1002/9781119860914.ch27

Research progress of the relationship between phosphoprotein phosphatases ( PPPs ) and neurodevelopmental disorders

Ji, W., Zheng, B., & Zhang, A. (2024) · Clinical Genetics · doi:10.1111/cge.14617

A spermatogonial perspective on the expansion of the mammalian brainPreprint

Bush, S. J., & Goriely, A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.15.676184

Proteome Complexity Scales with Architecture in Human Neural ModelsPreprint

Martins, M. R., Alvino, G. F., Muniz, P. D. L., Silveira, C. M. D. V., de Araujo, C. D. S., Nogueira, F. C. S., Rehen, S. K., Goto‐Silva, L., & Junqueira, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.10.681504

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

Planas‐Serra, L., Rodriguez-Ruiz, M. E., Anderson, E. N., Rodríguez‐Palmero, A., Vélez-Santamaría, V., Schlüter, A., Verdura, E., Gereñu, G., Jiménez-Zúñiga, A., Iñáñez, A., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.09.015

Additional file 2 of CEGA: a method for inferring natural selection by comparative population genomic analysis across species

Zhao, S., Chi, L., & Chen, H. (2024) · Figshare · doi:10.6084/m9.figshare.24240261

Additional file 1 of CEGA: a method for inferring natural selection by comparative population genomic analysis across species

Zhao, S., Chi, L., & Chen, H. (2023) · Figshare · doi:10.6084/m9.figshare.24240164

Drug resistant epilepsy driven by RHEB gene variants – Current evidence and a novel report of a paedatric case

Esserlind, A.-L., Pedersén, A., Abel, F., Hallböök, T., Reilly, C. J., Nilsson, D., Liakina, T., & Bontell, T. O. (2026) · Epilepsy & Behavior Reports · doi:10.1016/j.ebr.2026.100856

Microcephaly-causing WDR81 mutation alters endosomal trafficking of EGFR and leads to reduced progenitor cell proliferation

Carpentieri, J. A. (2020) · theses.fr (ABES) · doi:10.70675/1e00c88fzf627z42c5za72ez7da656ac6044

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish

Ayushma, Srivastava, P. P., & Minocha, S. (2026) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2026.1823713

Growing roles for the mTOR pathway

Sarbassov, D. D., Ali, S. M., & Sabatini, D. M. (2005) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2005.09.009 · Cited by 1,556 · see citing works

REDD2 inhibits mTOR signaling in skeletal muscle cells

Miyazaki, M., McCarthy, J. J., Zhang, X., et al. (2008) · The FASEB Journal · doi:10.1096/fasebj.22.1_supplement.959.13

PRL-3 activates mTORC1 in Cancer Progression

Ye, Z., Al-Aidaroos, A. Q., Park, J. E., Yuen, H. F., Zhang, S., Gupta, A. K., Lin, Y., Shen, H., & Zeng, Q. (2015) · Scientific Reports · doi:10.1038/srep17046 · Cited by 29 · see citing works

Recent Patents and Patent Applications Relating to mTOR Pathway

Liu, X., & Yue, Z. (2009) · Recent Patents on DNA & Gene Sequences · doi:10.2174/187221509787236192 · Cited by 2 · see citing works

Oncogenic Roles of the PI3K/AKT/mTOR axis

Aoki, M., & Fujishita, T. (2017) · Current topics in microbiology and immunology · doi:10.1007/82_2017_6 · Cited by 355 · see citing works