Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation · doi:10.1002/humu.22844 · Cited by 1,529 · see citing works

Prevalence and architecture of de novo mutations in developmental disorders

Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · see citing works

Large-scale discovery of novel genetic causes of developmental disorders

Study, T. D. D. D. (2015) · Nature · doi:10.1038/nature14135 · Cited by 1,124 · see citing works

Clinical application of whole-exome sequencing across clinical indications

Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.148 · Cited by 1,020 · see citing works

The G protein-coupled receptor repertoires of human and mouse

Vassilatis, D. K., Hohmann, J. G., Zeng, H., Li, F., Ranchalis, J., Mortrud, M. T., Brown, A., Rodriguez, S. S., Weller, J. R., Wright, A. C., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0230374100 · Cited by 779 · see citing works

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature · doi:10.1038/s41586-020-2832-5 · Cited by 615 · see citing works

G-protein signaling: back to the future

McCudden, C. R., Hains, M. D., Kimple, R. J., Siderovski, D. P., & Willard, F. S. (2005) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-004-4462-3 · Cited by 505 · see citing works

The Stability Effects of Protein Mutations Appear to be Universally Distributed

Tokuriki, N., Stricher, F., Schymkowitz, J. W. H., Serrano, L. G., & Tawfik, D. S. (2007) · Journal of Molecular Biology · doi:10.1016/j.jmb.2007.03.069 · Cited by 415 · see citing works

Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22645 · Cited by 247 · see citing works

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Nakamura, K., Kodera, H., Akita, T., Shiina, M., Kato, M., Hoshino, H., Terashima, H., Osaka, H., Nakamura, S., Tohyama, J., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.014 · Cited by 236 · see citing works

Gαi Controls the Gating of the G Protein-Activated K+ Channel, GIRK

Peleg, S., Varon, D., Ivanina, T., DESSAUER, C. W., & Dascal, N. (2002) · Neuron · doi:10.1016/s0896-6273(01)00567-0 · Cited by 161 · see citing works

Gα i1 and Gα i3 Are Required for Epidermal Growth Factor–Mediated Activation of the Akt-mTORC1 Pathway

Cao, C., Huang, X., Han, Y., Wan, Y., Birnbaumer, L., Feng, G. S., Marshall, J. J., Jiang, M., & Chu, W. (2009) · Science Signaling · doi:10.1126/scisignal.2000118 · Cited by 137 · see citing works

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.011 · Cited by 114 · see citing works

Movement disorder in<i>GNAO1</i>encephalopathy associated with gain-of-function mutations

Feng, H., Sjögren, B., Karaj, B., Shaw, V., Gezer, A., & Neubig, R. R. (2017) · Neurology · doi:10.1212/wnl.0000000000004262 · Cited by 107 · see citing works

Antidepression action of BDNF requires and is mimicked by Gαi1/3 expression in the hippocampus

Marshall, J. J., Zhou, X., Chen, G., Yang, S., Li, Y., Wang, Y., Zhang, Z.-Q., Jiang, Q., Birnbaumer, L., & Cao, C. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1722493115 · Cited by 74 · see citing works

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Myers, C. T., Stong, N., Mountier, E. I., Helbig, K. L., Freytag, S., Sullivan, J. E., Zeev, B. B., Nissenkorn, A., Tzadok, M., Heimer, G., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.013 · Cited by 71 · see citing works

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12435-8 · Cited by 61 · see citing works

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 128 · see citing works

Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements

Wirthlin, M. E., Schmid, T. A., Elie, J. E., Zhang, X., Kowalczyk, A. M., Redlich, R. W., Shvareva, V. A., Rakuljic, A., Ji, M. B., Bhat, N. S., et al. (2024) · Science · doi:10.1126/science.abn3263 · Cited by 39 · see citing works

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease

Solis, G. P., Kozhanova, T. V., Koval, A., Сергеевна, Ж. С., Mescheryakova, T. I., Abramov, A. A., Валерьевич, И. Е., Bolshakova, E. S., Осипова, К. В., Ayvazyan, S. O., et al. (2021) · Cells · doi:10.3390/cells10102749 · Cited by 34 · see citing works

Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies

Solis, G. P., Koval, A., Valnohová, J., Kazemzadeh, A., Savitsky, M., & Katanaev, V. L. (2024) · Journal of Clinical Investigation · doi:10.1172/jci172057 · Cited by 21 · see citing works

GPCR‐G protein selectivity revealed by structural pharmacology

Bernhard, S. M., Han, J., & Che, T. (2023) · FEBS Journal · doi:10.1111/febs.17049 · Cited by 17 · see citing works

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Iqbal, S., Brünger, T., Pérez‐Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P., & Lal, D. (2022) · Brain · doi:10.1093/brain/awac381 · Cited by 16 · see citing works

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders

Jauss, R., Schließke, S., & Jamra, R. A. (2022) · Genes · doi:10.3390/genes13122305 · Cited by 14 · see citing works

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Wayhelová, M., Vallová, V., Brož, P., Mikulášová, A., Loubalova, D., Filková, H., Smetana, J., Drábová, K., Gaillyová, R., & Kuglík, P. (2021) · Journal of Human Genetics · doi:10.1038/s10038-021-00988-w · Cited by 13 · see citing works

Genome-wide analysis of DNA methylation and gene expression in large yellow croaker (Larimichthys crocea) under hypoxic stress

Gao, Z., Zheng, C., Zhang, Y., Yang, J., Wang, X., Huang, L., Wu, X., Ding, J., Zhu, J., & Shen, W. (2024) · Aquaculture · doi:10.1016/j.aquaculture.2024.741624 · Cited by 11 · see citing works

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

AlMail, A., Jamjoom, A. A., Pan, A. Y., Feng, M. Y., Chau, V., D’Gama, A. M., Howell, K. B., Liang, N. S. Y., McTague, A., Poduri, A., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00408-w · Cited by 10 · see citing works

Bidirectional Hypoxic Extracellular Vesicle Signaling Between Müller Glia and Retinal Pigment Epithelium Regulates Retinal Metabolism and Barrier Function

Mansour, A., Gad, M. S., Habib, S., & Elmasry, K. (2025) · Biology · doi:10.3390/biology14081014 · Cited by 7 · see citing works

Multi-omic analysis of precocious puberty girls: pathway changes and metabolite validation

Zhou, F. J., Mao, J., Jin, Z., Zhu, L., & Li, X. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1285666 · Cited by 7 · see citing works

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

Silver, H., Greenberg, R., Siper, P. M., Zweifach, J., Soufer, R., Şahin, M., Berry‐Kravis, E., Soorya, L. V., Thurm, A., Bernstein, J. A., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09600-0 · Cited by 4 · see citing works

G-Protein Signaling in Alzheimer's Disease: Spatial Expression Validation of Semi-supervised Deep Learning-Based Computational Framework

Zhang, D. F., Penwell, T., Chen, Y., Koehler, A., Wu, R., Akhtar, S. N., & Lu, Q. (2024) · Journal of Neuroscience · doi:10.1523/jneurosci.0587-24.2024 · Cited by 5 · see citing works

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies

Katanaev, V. L., & Solis, G. P. (2025) · EMBO Molecular Medicine · doi:10.1038/s44321-025-00274-8 · Cited by 4 · see citing works

The Role of Dendritic Cells in the Host Response to Marek’s Disease Virus (MDV) as Shown by Transcriptomic Analysis of Susceptible and Resistant Birds

Chakraborty, P., Kuo, R. I., Wu, Z., Morris, K., Dutia, B. M., Kaiser, P., & Smith, J. (2022) · Pathogens · doi:10.3390/pathogens11111340 · Cited by 4 · see citing works

Transcriptome Profiling Based at Different Time Points after Hatching Deepened Our Understanding on Larval Growth and Development of Amphioctopus fangsiao

Li, Z., Bao, X., Liu, X., Wang, W., Yang, J., Zhu, X., & Wang, S. (2023) · Metabolites · doi:10.3390/metabo13080927 · Cited by 3 · see citing works

Influence of expression and purification protocols on Gα biochemical activity: kinetics of plant and mammalian G protein cycles

Gookin, T. E., Chakravorty, D., & Assmann, S. M. (2025) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2025.1513660 · Cited by 3 · see citing works

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy

Smal, N., Millevert, C., Wachter, M. D., Vriendt, E. D., Eddafir, Z., Schoonjans, A., Bayat, A., Møller, R. S., Mei, D., Balestrini, S., et al. (2025) · Epilepsia · doi:10.1111/epi.18279 · Cited by 2 · see citing works

Functional classification of <i>GNAI1</i> disorder variants in <i>Caenorhabditis elegans</i> uncovers conserved and cell-specific mechanisms of dysfunction

Salama, R., Peet, E., Morrione, T. L., Durant, S., Seager, M., Rennie, M., Scarlata, S., & Nechipurenko, I. (2025) · GENETICS · doi:10.1093/genetics/iyaf216 · Cited by 2 · see citing works

A GNAI1 Pathogenic Variant in a Case with GNAO1 ‐Isolated Dystonia: A Modifier of Disease Severity?

Monje, M. H. G., Blackburn, J., Kinsley, L. M., Krainc, D., & Mencacci, N. E. (2024) · Movement Disorders · doi:10.1002/mds.29765 · Cited by 1 · see citing works

Dysregulation of G protein subunits in autism: decreased GNAO1 and elevated GNAI1 levels in ASD

Topal, H., Şahın, N., Özdemir, Ç., Yazici, Ö. N., Başkaya, G. D., Topal, Y., & Edgünlü, T. (2025) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2025.1587727 · Cited by 1 · see citing works

Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review

Alali, F. A., Drdir, T., Yahya, A., & Amiri, E. A. (2024) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000491 · Cited by 1 · see citing works

miRNA-200a suppresses GNAI1 and PLCB4 to modulate skin pigmentation in cashmere goats

Li, J., Zhang, B., Liu, R., Li, X., Sun, X., & Zhang, Q. (2025) · Scientific Reports · doi:10.1038/s41598-025-01956-6 · Cited by 1 · see citing works

Identification of immune-related genes and molecular subtypes associated with preeclampsia via bioinformatics analysis and experimental validation

Zhao, T., & Peng, Y. (2025) · Hereditas · doi:10.1186/s41065-025-00458-9 · Cited by 1 · see citing works

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelinesPreprint

AlMail, A., Jamjoom, A. A., Pan, A. Y., Feng, M. Y., Chau, V., D’Gama, A. M., Howell, K. B., Liang, N. S. Y., McTague, A., Poduri, A., et al. (2023) · medRxiv · doi:10.1101/2023.09.13.23295418 · Cited by 1 · see citing works

Human Epilepsy Gene Discovery

Bonkowski, E. S., & Mefford, H. C. (2024) · doi:10.1093/med/9780197549469.003.0041

MeHA: A Computational Framework in Revealing the Genetic Basis of Animal Mental Health Traits Under an Intensive Farming System—A Case Study in Pigs

Jiang, J., Xu, L., Zhuang, Y., Wei, X., Zhang, Z., Zhao, W., Wang, Q., Ye, X., Gu, J., Cao, C., et al. (2024) · Biology · doi:10.3390/biology13100843

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1 ‐Associated Neurodevelopmental Disorder

de Albuquerque, M. A. V., & Kok, F. (2025) · Clinical Case Reports · doi:10.1002/ccr3.71442

Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variantsPreprint

de Albuquerque, M. A. V. (2025) · Research Square · doi:10.21203/rs.3.rs-8242970/v1

GNAI1 missense mutations associated with a neurodevelopmental syndrome modify Gα i1 function

Fritsche, M., Picozzi, G., Nyman, T., Zeberg, H., & Ågren, R. (2025) · Science Signaling · doi:10.1126/scisignal.adt8890

Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay

Qin, J., Zeng, Y., Qin, S., Wang, W., Huang, J., Wei, X., Chang, R., Zheng, X., Li, Y., Yuan, D., et al. (2025) · Molecular Cytogenetics · doi:10.1186/s13039-025-00739-y

Tracking Neural Deterioration in proNGF-Overexpressing Mice: Hippocampal Serotonergic Dysfunction and Synaptic Loss Drive Neurodegeneration

Bell, N. A., Imami, A. S., Srivatsan, M., Jiang, N., Musalgavkar, A., Ridi, A., & McCullumsmith, R. E. (2025) · Translation The University of Toledo Journal of Medical Sciences · doi:10.46570/utjms-2025-1901

GNAI2 activating variants and MAGIS syndrome: long-term endocrine and growth outcome

Giannakopoulos, A., Sertedaki, A., Efthymiadou, A., Kostopoulou, E., & Chrysis, D. (2026) · HORMONES · doi:10.1007/s42000-026-00835-7

Quantifying the impact of genetic mutations on enhancer dynamics

Das, M., Banerjee, D., Hossain, A., Jensen, M., Mogre, S., Sun, J., Mao, J., Glick, A. B., Salis, H. M., & Girirajan, S. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.118131

Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variantsPreprint

de Albuquerque, M. A. V. (2025) · Research Square · doi:10.21203/rs.3.rs-8242970/v1

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1 ‐Associated Neurodevelopmental Disorder

de Albuquerque, M. A. V., & Kok, F. (2025) · Clinical Case Reports · doi:10.1002/ccr3.71442

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Wayhelová, M., Vallová, V., Brož, P., Mikulášová, A., Loubalova, D., Filkova, H., Smetana, J., Drábová, K., Gaillyová, R., & Kuglík, P. (2022) · Newcastle University ePrints (Newcastle Univesity) · doi:10.25405/ncl.34440267

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

Kelly, M., Park, M., Mihalek, I., Rochtus, A. M., Gramm, M., Pérez‐Palma, E., Axeen, E. T., Hung, C., Olson, H. E., Swanson, L. C., et al. (2019) · Epilepsia · doi:10.1111/epi.14653 · Cited by 73 · see citing works

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Saitsu, H., Fukai, R., Ben‐Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.92 · Cited by 124 · see citing works