NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
Open accessAbstract
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations creating a premature termination codon, and three subjects harbored single-nucleotide variations resulting in an inactive protein as determined using an in vitro reporter assay. All individuals presented with additional variable neurodevelopmental phenotypes, including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. While structural brain anomalies, including dysgenesis of corpus callosum, were variable, individuals most frequently presented with macrocephaly. To determine whether macrocephaly could be a functional consequence of NFIB disruption, we analyzed a cortex-specific Nfib conditional knockout mouse model, which is postnatally viable. Utilizing magnetic resonance imaging and histology, we demonstrate that Nfib conditional knockout mice have enlargement of the cerebral cortex but preservation of overall brain structure and interhemispheric connectivity. Based on our findings, we propose that haploinsufficiency of NFIB causes ID with macrocephaly.
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A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · 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
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,949 · see citing works
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521 · see citing works
MutationTaster2: mutation prediction for the deep-sequencing age
Schwarz, J. M., Cooper, D. N., Schuelke, M., & Seelow, D. (2014) · Nature Methods · doi:10.1038/nmeth.2890 · Cited by 3,652 · see citing works
ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
ClinVar: public archive of interpretations of clinically relevant variants
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758 · see citing works
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990 · 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
De Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works
The Database of Genomic Variants: a curated collection of structural variation in the human genome
MacDonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L., & Scherer, S. W. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt958 · Cited by 1,346 · see citing works
Genome-wide association study identifies 74 loci associated with educational attainment
Okbay, A., Beauchamp, J. P., Fontana, M. A., Lee, J. J., Pers, T. H., Rietveld, C. A., Turley, P., Chen, G.-B., Emilsson, V., Meddens, S. F. W., et al. (2016) · Nature · doi:10.1038/nature17671 · Cited by 1,297 · see citing works
Kessaris, N., Fogarty, M., Iannarelli, P., Grist, M., Wegner, M., & Richardson, W. D. (2006) · Nature Neuroscience · doi:10.1038/nn1620 · Cited by 1,195 · see citing works
Characterising and Predicting Haploinsufficiency in the Human Genome
Huang, N., Lee, I., Marcotte, E. M., & Hurles, M. E. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001154 · Cited by 649 · see citing works
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
Segurado, R., Detera‐Wadleigh, S. D., Levinson, D. F., Lewis, C. M., Gill, M., Nürnberger, J. I., Craddock, N. J., DePaulo, J. R., Baron, M., Gershon, E. S., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/376547 · Cited by 569 · see citing works
Roles of the NFI/CTF gene family in transcription and development
Gronostajski, R. M. (2000) · Gene · doi:10.1016/s0378-1119(00)00140-2 · Cited by 545 · see citing works
Hagman, K. D. F., Shahmirzadi, L., El‐Khechen, D., Powis, Z., Chao, E., Davis, B. T., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.154 · Cited by 469 · see citing works
Ma, Y., Hof, P. R., Grant, S. C., Blackband, S. J., Bennett, R., Slatest, L. A., McGuigan, M., & Benveniste, H. (2005) · Neuroscience · doi:10.1016/j.neuroscience.2005.07.014 · Cited by 441 · see citing works
Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3720 · Cited by 334 · see citing works
Self-citationIsolation of Microtubule Protein from Cultured Mouse Neuroblastoma Cells
Olmsted, J. B., Carlson, K., Klebe, R. J., Ruddle, F. H., & Rosenbaum, J. L. (1970) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.65.1.129 · Cited by 315 · see citing works
The Transcription Factor Gene Nfib Is Essential for both Lung Maturation and Brain Development
Steele-Perkins, G., Plachez, C., Butz, K. G., Yang, G., Bachurski, C. J., Kinsman, S. L., Litwack, E. D., Richards, L. J., & Gronostajski, R. M. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.2.685-698.2005 · Cited by 310 · see citing works
das Neves, L., Duchala, C. S., Godinho, F., Haxhiu, M. A., Colmenares, C., Macklin, W. B., Campbell, C. E., Butz, K. G., & Gronostajski, R. M. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.21.11946 · Cited by 236 · see citing works
Tatton‐Brown, K., Loveday, C., Yost, S. E., Clarke, M., Ramsay, E., Zachariou, A., Elliott, A., Wylie, H., Ardissone, A., Rittinger, O., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.010 · Cited by 222 · see citing works
Abnormal Development of Forebrain Midline Glia and Commissural Projections inNfiaKnock-Out Mice
Shu, T., Butz, K. G., Plachez, C., Gronostajski, R. M., & Richards, L. J. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-01-00203.2003 · Cited by 213 · see citing works
A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder
Prasad, A., Merico, D., Thiruvahindrapuram, B., Wei, J., Lionel, A. C., Sato, D., Rickaby, J., Lu, C., Szatmari, P., Roberts, W., et al. (2012) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.112.004689 · Cited by 206 · see citing works
Le‐Niculescu, H., Patel, S. D., Bhat, M., Kuczenski, R., Faraone, S. V., Tsuang, M. T., McMahon, F. J., Schork, N. J., Nurnberger, J. I., & Niculescu, A. B. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30887 · Cited by 201 · see citing works
Bendl, J. M., Musil, M., Štourač, J., Zendulka, J., Damborský, J., & Brezovský, J. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004962 · Cited by 199 · see citing works
The transcription factor Nfixis essential for normal brain development
Campbell, C. E., Piper, M., Plachez, C., Yeh, Y.-T., Baizer, J. S., Osinski, J. M., Litwack, E. D., Richards, L. J., & Gronostajski, R. M. (2008) · BMC Developmental Biology · doi:10.1186/1471-213x-8-52 · Cited by 179 · see citing works
Self-citationMalan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis-Dit-Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G. R., Nampoothiri, S., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.001 · Cited by 173 · see citing works
Mikhail, F. M., Lose, E. J., Robin, N. H., Descartes, M. D., Rutledge, K. D., Rutledge, S. L., Korf, B. R., & Carroll, A. J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34177 · Cited by 168 · see citing works
NFIB is a governor of epithelial–melanocyte stem cell behaviour in a shared niche
Chang, C.-Y., Pasolli, H. A., Γιαννοπούλου, Ε., Guasch, G., Gronostajski, R. M., Elemento, O., & Fuchs, E. V. (2013) · Nature · doi:10.1038/nature11847 · Cited by 163 · see citing works
A genome-wide association study of attempted suicide
Willour, V. L., Seifuddin, F., Mahon, P. B., Jancic, D., Pirooznia, M., Steele, J., Schweizer, B. W., Goes, F. S., Mondimore, F. M., MacKinnon, D. F., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.4 · Cited by 162 · see citing works
Zhang, X., Snijders, A. M., Segraves, R., Zhang, X., Niebuhr, A., Albertson, D. G., Yang, H., Gray, J. W., Niebuhr, E., Bolund, L., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427762 · Cited by 140 · see citing works
Nuclear Factor I X Deficiency Causes Brain Malformation and Severe Skeletal Defects
Driller, K., Pagenstecher, A., Uhl, M., Omran, H., Berlis, A., Gründer, A., & Sippel, A. E. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.02293-06 · Cited by 139 · see citing works
Astrocyte activation and dysfunction and neuron death by HIV-1 Tat expression in astrocytes
Zhou, B. Y., Liu, Y., Kim, B. O., Xiao, Y., & He, J. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.003 · Cited by 133 · see citing works
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
Lu, W., Quintero‐Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D., Xi, Q. J., Turbé-Doan, A., Li, Q., Campbell, C., Shanske, A. L., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030080 · Cited by 128 · see citing works
Nuclear Factor One Transcription Factors in CNS Development
Mason, S. L., Piper, M., Gronostajski, R. M., & Richards, L. J. (2008) · Molecular Neurobiology · doi:10.1007/s12035-008-8048-6 · Cited by 116 · see citing works
Sajan, S. A., Fernández, L., Nieh, S. E., Rider, E., Bukshpun, P., Wakahiro, M. L. J., Christian, S. L., Rivière, J., Sullivan, C. T., Sudi, J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003823 · Cited by 113 · see citing works
Westermark, B. (1973) · International Journal of Cancer · doi:10.1002/ijc.2910120215 · Cited by 108 · see citing works
Nuclear factor I-B (Nfib) deficient mice have severe lung hypoplasia
Gründer, A., Ebel, T. T., Mallo, M., Schwarzkopf, G., Shimizu, T., Sippel, A. E., & Schrewe, H. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00640-2 · Cited by 105 · see citing works
Common genetic variation and performance on standardized cognitive tests
Cirulli, E. T., Kasperavičiūtė, D., Attix, D. K., Need, A. C., Ge, D., Gibson, G., & Goldstein, D. B. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.2 · Cited by 98 · see citing works
Specific Glial Populations Regulate Hippocampal Morphogenesis
Barry, G., Piper, M., Lindwall, C., Moldrich, R. X., Mason, S., Little, E. B., Sarkar, A., Tole, S., Gronostajski, R. M., & Richards, L. J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.4000-08.2008 · Cited by 95 · see citing works
Nuclear factor I gene expression in the developing forebrain
Plachez, C., Lindwall, C., Sunn, N., Piper, M., Moldrich, R. X., Campbell, C. E., Osinski, J. M., Gronostajski, R. M., & Richards, L. J. (2008) · The Journal of Comparative Neurology · doi:10.1002/cne.21645 · Cited by 91 · see citing works
Hsu, Y.-C., Osinski, J. M., Campbell, C. E., Litwack, E. D., Wang, D., Liu, S., Bachurski, C. J., & Gronostajski, R. M. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.04.002 · Cited by 82 · see citing works
Gobius, I., Morcom, L. R., Suárez, R., Bunt, J., Bukshpun, P., Reardon, W., Dobyns, W. B., Rubenstein, J. L. R., Barkovich, A. J., Sherr, E. H., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.09.033 · Cited by 82 · see citing works
NFIB-Mediated Repression of the Epigenetic FactorEzh2Regulates Cortical Development
Piper, M., Barry, G., Harvey, T. J., McLeay, R. C., Smith, A. G., Harris, L., Mason, S., Stringer, B. W., Day, B. W., Wray, N. R., et al. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2319-13.2014 · Cited by 79 · see citing works
Further delineation of Malan syndrome
Priolo, M., Schanze, D., Tatton‐Brown, K., Mulder, P. A., Tenorio, J. A., Kooblall, K. G., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., et al. (2018) · Human Mutation · doi:10.1002/humu.23563 · Cited by 78 · see citing works
Klaassens, M., Morrogh, D., Rosser, E. M., Jaffer, F., Vreeburg, M., Bok, L. A., Segboer, T., van Belzen, M., Quinlivan, R. C. M., Kumar, A., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.162 · Cited by 76 · see citing works
Comparative mouse brain tractography of diffusion magnetic resonance imaging
Moldrich, R. X., Pannek, K., Hoch, R. V., Rubenstein, J. L. R., Kurniawan, N. D., & Richards, L. J. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.03.035 · Cited by 73 · see citing works
Betancourt, J., Katzman, S. J., & Chen, B. (2013) · The Journal of Comparative Neurology · doi:10.1002/cne.23373 · Cited by 67 · see citing works
Multiple non-cell-autonomous defects underlie neocortical callosal dysgenesis in Nfib-deficient mice
Piper, M., Moldrich, R. X., Lindwall, C., Little, E. B., Barry, G., Mason, S., Sunn, N., Kurniawan, N. D., Gronostajski, R. M., & Richards, L. J. (2009) · Neural Development · doi:10.1186/1749-8104-4-43 · Cited by 67 · see citing works
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., et al. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.7 · Cited by 64 · see citing works
Mitogenic and anti-proliferative signals for neural crest cells and the neurogenic action of TGF-β1
Zhang, J., Hoffmann, R. G., & Sieber‐Blum, M. (1997) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199703)208:3 · Cited by 62 · see citing works
Brun, M. M., Coles, J. E., Monckton, E. A., Glubrecht, D. D., Bisgrove, D. A., & Godbout, R. (2009) · Journal of Molecular Biology · doi:10.1016/j.jmb.2009.06.041 · Cited by 56 · see citing works
Liu, Y., Bernard, H., & Apt, D. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.16.10739 · Cited by 55 · see citing works
Revah‐Politi, A., Ganapathi, M., Bier, L., Cho, M. T., Goldstein, D. B., Hemati, P., Iglesias, A. D., Juusola, J., Pappas, J., Petrovski, S., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38460 · Cited by 55 · see citing works
Martı́nez, F., Reina, P. M., Calvo, A. S., Aytés, A. P., Oltra, S., Rosello, M., Mayo, S., Monfort, S., Pantoja, J., & Orellana, C. (2015) · Pediatric Research · doi:10.1038/pr.2015.135 · Cited by 53 · see citing works
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation
Shimojima, K. Y., Okamoto, N., Tamasaki, A., Sangu, N., Shimada, S., & Yamamoto, T. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36959 · Cited by 52 · see citing works
Piper, M., Harris, L., Barry, G., Heng, Y. H. E., Plachez, C., Gronostajski, R. M., & Richards, L. J. (2011) · The Journal of Comparative Neurology · doi:10.1002/cne.22721 · Cited by 49 · see citing works
Alby, C., Malan, V., Boutaud, L., Marangoni, M., Bessières, B., Bonnière, M., Ichkou, A., Elkhartoufi, N., Bahi‐Buisson, N., Sonigo, P., et al. (2015) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23472 · Cited by 48 · see citing works
Koehler, U., Holinski‐Feder, E., Ertl-Wagner, B. B., Kunz, J., von Moers, A., von Voß, H., & Schell-Apacik, C. C. (2009) · European Journal of Pediatrics · doi:10.1007/s00431-009-1057-2 · Cited by 44 · see citing works
Silfhout, A. T. V., van Ravenswaaij‐Arts, C. M. A., Hehir‐Kwa, J. Y., Verwiel, E. T. P., Dirks, R., Vooren, S. V., Schinzel, A., Vries, B. B. A. D., & de Leeuw, N. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.06.010 · Cited by 43 · see citing works
Nuclear factor one B (NFIB) encodes a subtype-specific tumour suppressor in glioblastoma
Stringer, B. W., Bunt, J., Day, B. W., Barry, G., Jamieson, P. R., Ensbey, K. S., Bruce, Z. C., Goasdoué, K., Vidal, H., Charmsaz, S., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.8720 · Cited by 43 · see citing works
Transcriptional regulation of intermediate progenitor cell generation during hippocampal development
Harris, L., Zalucki, O. H., Gobius, I., McDonald, H., Osinki, J., Harvey, T. J., Essebier, A., Vidovic, D., Gladwyn-Ng, I. E., Burne, T. H. J., et al. (2016) · Development · doi:10.1242/dev.140681 · Cited by 42 · see citing works
Rao, A. C. A., O’Donnell, S., Bain, N. L., Meldrum, C. J., Shorter, D., & Goel, H. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.12.011 · Cited by 41 · see citing works
Zhao, W.-W. (2013) · Molecular Cytogenetics · doi:10.1186/1755-8166-6-26 · Cited by 41 · see citing works
Chen, K., Harris, L., Lim, J. W. C., Harvey, T. J., Piper, M., Gronostajski, R. M., Richards, L. J., & Bunt, J. (2017) · The Journal of Comparative Neurology · doi:10.1002/cne.24206 · Cited by 38 · see citing works
Chen, C., Su, Y., Chen, Y., Chern, S., Liu, Y.-P., Wu, P., Lee, C., Chen, Y., & Wang, W. (2011) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2011.07.014 · Cited by 37 · see citing works
Combined allelic dosage of Nfia and Nfib regulates cortical development
Bunt, J., Osinski, J. M., Lim, J. W. C., Vidovic, D., Ye, Y., Zalucki, O. H., O’Connor, T. R., Harris, L., Gronostajski, R. M., Richards, L. J., et al. (2017) · Brain and Neuroscience Advances · doi:10.1177/2398212817739433 · Cited by 37 · see citing works
Gurrieri, F., Cavaliere, M. L., Wischmeijer, A., Mammì, C., Neri, G., Pisanti, M. A., Rodella, G., Laganà, C., & Priolo, M. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.06.009 · Cited by 35 · see citing works
Familial craniosynostosis associated with a microdeletion involving the NFIA gene
Nyboe, D., Kreiborg, S., Kirchhoff, M., & Hove, H. (2015) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000079 · Cited by 33 · see citing works
Schanze, D., Neubauer, D., Cormier‐Daire, V., Delrue, M., Dieux‐Coëslier, A., Hasegawa, T., Holmberg, E., Koenig, R., Krüger, G., Schanze, I., et al. (2014) · Human Mutation · doi:10.1002/humu.22603 · Cited by 31 · see citing works
Truncating mutation in NFIA causes brain malformation and urinary tract defects
Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., et al. (2015) · Human Genome Variation · doi:10.1038/hgv.2015.7 · Cited by 31 · see citing works
Oshima, T., Hara, H., Takeda, N., Hasumi, E., Kuroda, Y., Taniguchi, G., Inuzuka, R., Nawata, K., Morita, H., & Komuro, I. (2017) · Human Genome Variation · doi:10.1038/hgv.2017.22 · Cited by 28 · see citing works
Ji, J., Salamon, N., & Quintero‐Rivera, F. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.03.004 · Cited by 25 · see citing works
Choi, J., Ababon, M. R., Matteson, P. G., & Millonig, J. H. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr594 · Cited by 23 · see citing works
EMX1 regulates NRP1-mediated wiring of the mouse anterior cingulate cortex
Lim, J. W. C., Donahoo, A.-L. S., Bunt, J., Edwards, T. J. C., Fenlon, L. R., Liu, Y., Zhou, J., Moldrich, R. X., Piper, M., Gobius, I., et al. (2015) · Development · doi:10.1242/dev.119909 · Cited by 21 · see citing works
Jezela‐Stanek, A., Kucharczyk, M., Falana, K., Jurkiewicz, D., Młynek, M., Wicher, D., Rydzanicz, M., Kugaudo, M., Cieślikowska, A., Ciara, E., et al. (2016) · Biomedical Papers · doi:10.5507/bp.2016.006 · Cited by 21 · see citing works
Gobius, I., Suárez, R., Morcom, L. R., Paolino, A., Edwards, T. J. C., Kozulin, P., & Richards, L. J. (2017) · Neural Development · doi:10.1186/s13064-017-0086-1 · Cited by 16 · see citing works
Genetic markers of white matter integrity in schizophrenia revealed by parallel ICA
Gupta, C. N., Chen, J., Liu, J., Damaraju, E., Wright, C., Perrone‐Bizzozero, N. I., Pearlson, G. D., Luo, L., Michael, A. M., Turner, J. A., et al. (2015) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2015.00100 · Cited by 15 · see citing works
Aggarwal, A., Nguyen, J., Rivera‐Dávila, M., & Rodriguez‐Buritica, D. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.04.012 · Cited by 15 · see citing works
PAX6 does not regulate Nfia and Nfib expression during neocortical development
Bunt, J., Lim, J. W. C., Zhao, L., Mason, S., & Richards, L. J. (2015) · Scientific Reports · doi:10.1038/srep10668 · Cited by 13 · see citing works
Dong, H.-Y., Zeng, H., Hu, Y., Xie, L., Wang, J., Wang, X., Yang, Y., & Tan, Z. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0282-4 · Cited by 11 · see citing works
Flagged first, then by citations
1 of the 84 references couldn’t be matched to a known paper.
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Zanella, M., Vitriolo, A., Andirko, A., Martins, P. T., Sturm, S., O’Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw7908 · Cited by 101 · see citing works
Variants in nuclear factor I genes influence growth and development
Zenker, M., Bunt, J., Schanze, I., Schanze, D., Piper, M., Priolo, M., Gerkes, E. H., Gronostajski, R. M., Richards, L. J., Vogt, J., et al. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31747 · Cited by 56 · see citing works
Martins‐Costa, C., Wiegers, A., Pham, V. A., Sidhaye, J., Doleschall, B., Novatchkova, M., Lendl, T., Piber, M., Peer, A. M., Möseneder, P., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.04.014 · Cited by 55 · see citing works
Popova, G., Retallack, H., Kim, C. N., Wang, A., Shin, D. S., DeRisi, J. L., & Nowakowski, T. J. (2023) · eLife · doi:10.7554/elife.87696 · Cited by 30 · see citing works
Yan, L., Li, L., & Lei, J. (2021) · Bioengineered · doi:10.1080/21655979.2021.2005928 · Cited by 25 · see citing works
Yeon, G., Shin, W., Yoo, S. H., Kim, D., Jeon, B., Park, W., Bae, Y., Park, J., You, S., Na, D., et al. (2021) · Journal of Cellular Physiology · doi:10.1002/jcp.30405 · Cited by 23 · see citing works
FGF8-mediated gene regulation affects regional identity in human cerebral organoids
Bertacchi, M., Maharaux, G., Loubat, A., Jung, M., & Studer, M. (2024) · eLife · doi:10.7554/elife.98096 · Cited by 20 · see citing works
Dony, L., Krontira, A. C., Kaspar, L., Ahmad, R., Demirel, I. S., Grochowicz, M., Schäfer, T., Begum, F., Sportelli, V., Raimundo, C., et al. (2025) · Science Advances · doi:10.1126/sciadv.adn8631 · Cited by 19 · see citing works
Morcom, L. R., Edwards, T. J. C., Rider, E., Jones, D. M., Lim, J. W. C., Chen, K., Dean, R. J., Bunt, J., Ye, Y., Gobius, I., et al. (2021) · eLife · doi:10.7554/elife.61618 · Cited by 20 · see citing works
Shao, Y., Bajikar, S. S., Tirumala, H. P., Gutierrez, M. E. C., Wythe, J. D., & Zoghbi, H. Y. (2021) · Genes & Development · doi:10.1101/gad.345397.120 · Cited by 18 · see citing works
Single-cell proteomic landscape of the developing human brain
Wu, T., Jiang, L., Mukhtar, T., Wang, L., Jian, R., Wang, C., Trinh, T., Kriegstein, A. R., Snyder, M., & Li, J. (2026) · Nature Biotechnology · doi:10.1038/s41587-025-02980-7 · Cited by 23 · see citing works
Spatiotemporal transcriptome atlas of human embryos after gastrulation
Pan, J., Li, Y., Lin, Z., Lan, Q., Zhang, Y., Chen, H., Sui, S., Zhai, M., Zhang, G., Cheng, Y., et al. (2026) · Nature · doi:10.1038/s41586-026-10545-0 · Cited by 17 · see citing works
Chevarin, M., Duffourd, Y., Barnard, R., Moutton, S., Lecoquierre, F., Daoud, F., Kuentz, P., Cabret, C., Thévenon, J., Gautier, É., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106425 · Cited by 16 · see citing works
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
Alonso-González, A., Calaza, M., Amigo, J., González‐Peñas, J., Martínez-Regueiro, R., Fernández‐Prieto, M., Parellada, M., Arango, C., Rodriguez‐Fontenla, C., & Carracedo, Á. (2021) · Scientific Reports · doi:10.1038/s41598-020-79412-w · Cited by 16 · see citing works
Mohamed, A. M., Kamel, A. K., Eid, M. M., Eid, O. M., Mekkawy, M. K., Hussein, S. H., Zaki, M. S., Esmail, S., Afifi, H. H., El‐Kamah, G. Y., et al. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1829 · Cited by 14 · see citing works
NFIA and NFIB function as tumour suppressors in high-grade glioma in mice
Chen, K., Lynton, Z., Lim, J. W. C., Robertson, T., Gronostajski, R. M., Bunt, J., & Richards, L. J. (2020) · Carcinogenesis · doi:10.1093/carcin/bgaa139 · Cited by 14 · see citing works
scCompass: An Integrated Multi‐Species scRNA‐seq Database for AI‐Ready
Wang, P., Liu, W., Wang, J., Liu, Y., Li, P., Xu, P., Cui, W., Zhang, R., Long, Q., Hu, Z., et al. (2025) · Advanced Science · doi:10.1002/advs.202500870 · Cited by 17 · see citing works
Uehara, T., Sanuki, R., Ogura, Y., Yokoyama, A., Yoshida, T., Futagawa, H., Yoshihashi, H., Yamada, M., Suzuki, H., Takenouchi, T., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62226 · Cited by 12 · see citing works
Wang, Y., Sun, Z., He, Q., Li, J., Ni, M., & Yang, M. (2022) · Patterns · doi:10.1016/j.patter.2022.100651 · Cited by 13 · see citing works
Rao, A. C. A., & Goel, H. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104092 · Cited by 10 · see citing works
Jeon, S. T., Park, J., Moon, J. H., Shin, D., Li, L., O’Shea, H., Hwang, S., Lee, H., Brimble, E., Lee, J. W., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59838-4 · Cited by 9 · see citing works
NFI transcriptionally represses CDON and is required for SH-SY5Y cell survival
Uluca, B., Lektemur, C., Erdogan, S. S., & Kumbasar, A. (2022) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2022.194798 · Cited by 8 · see citing works
da Costa, S. S., Fishman, V., Pinheiro, M. M. L. S., Rodrigueiro, A., Sanseverino, M. T. V., Zielinsky, P., Carvalho, C. M. B., Rosenberg, C., & Krepischi, A. C. V. (2024) · Chromosome Research · doi:10.1007/s10577-024-09750-2 · Cited by 8 · see citing works
HIV-1 Tat and cocaine impact astrocytic energy reservoir influence on miRNA epigenetic regulation
Doke, M., Kashanchi, F., Khan, M. A., & Samikkannu, T. (2021) · Genomics · doi:10.1016/j.ygeno.2021.08.013 · Cited by 8 · see citing works
Nuclear factor I/B: Duality in action in cancer pathophysiology
Perumal, N., Gopalakrishnan, P., Burkovetskaya, M. E., Doss, D., Dukkipati, S. S., Kanchan, R. K., & Mahapatra, S. (2024) · Cancer Letters · doi:10.1016/j.canlet.2024.217349 · Cited by 7 · see citing works
Zhou, L., Wang, Q., Mao, L., Chen, S., Yang, Z., Liu, X., Gao, Y., Li, X., Zhou, Z., & He, S. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.875324 · Cited by 7 · see citing works
Joshi, A., Giorgi, F. M., & Sanna, P. P. (2024) · eNeuro · doi:10.1523/eneuro.0118-24.2024 · Cited by 6 · see citing works
Further characterization of NFIB ‐associated phenotypes: Report of two new individuals
Marinella, G., Conti, E., Buchignani, B., Sgherri, G., Pasquariello, R., Giordano, F., Cristofani, P., Battini, R., & Battaglia, A. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63018 · Cited by 6 · see citing works
Translocations and Gene Fusions in Sinonasal Malignancies
Larkin, R. M., Hermsen, M. A. J. A., & London, N. R. (2023) · Current Oncology Reports · doi:10.1007/s11912-023-01364-x · Cited by 6 · see citing works
Marderstein, A. R., Kundu, S., Padhi, E. M., Deshpande, S., Wang, A., Robb, E., Sun, Y., Yun, C. M., Pomales-Matos, D. A., Xie, Y., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.18.638922 · Cited by 6 · see citing works
Wu, J., Yu, H., Dou, X., Yin, B., Hou, L., Xue, Y., Qiang, B., Shu, P., & Peng, X. (2025) · Advanced Science · doi:10.1002/advs.202411732 · Cited by 5 · see citing works
Progress in magnetic resonance imaging of autism model mice brain
Yang, D., Zhao, Y., Nie, B., An, L., Wan, X., Wang, Y., Wang, W., Cai, G., & Wu, S. (2022) · Wiley Interdisciplinary Reviews Cognitive Science · doi:10.1002/wcs.1616 · Cited by 5 · see citing works
Campbell, C. E., Webber, K., Bard, J., Chaves, L. D., Osinski, J. M., & Gronostajski, R. M. (2024) · Stem Cells and Development · doi:10.1089/scd.2022.0204 · Cited by 5 · see citing works
Loss of NFIA Impairs Adult Hippocampal Neurogenesis
Wang, M., van Bruggen, R., Mohammed, L., Egor, K., & Tan, Q. (2025) · Hippocampus · doi:10.1002/hipo.70016 · Cited by 5 · see citing works
Barrus, K., Rego, S. M., Yip, T., Martin, P., Glen, O. A., Ziffle, J. V., & Slavotinek, A. M. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61852 · Cited by 5 · see citing works
Zanella, M., Vitriolo, A., Andirkó, A., Martins, P. T., Sturm, S., O’Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., et al. (2020) · Yearbook of pediatric endocrinology · doi:10.1530/ey.17.14.7 · Cited by 5 · see citing works
ARID1B controls transcriptional programs of axon projection in the human corpus callosumPreprint
Martins‐Costa, C., Pham, V. A., Wiegers, A., Sidhaye, J., Doleschall, B., Novatchkova, M., Lendl, T., Piber, M., Peer, A. M., Möseneder, P., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.04.539362 · Cited by 5 · see citing works
scCompass: An integrated cross-species scRNA-seq database for AI-readyPreprint
Wang, P., Liu, W., Wang, J., Liu, Y., Li, P., Xu, P., Cui, W., Zhang, R., Long, Q., Hu, Z., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.11.12.623138 · Cited by 5 · see citing works
Lu, L., McLinden, A. P., Walker, N. M., Vittal, R., Wang, Y., Fattahi, F., Russell, S. T., Combs, M. P., Welch, J. D., & Lama, V. N. (2026) · JCI Insight · doi:10.1172/jci.insight.196651 · Cited by 4 · see citing works
Romano, L. E. L., Tsukagoshi, S., Davey, E. E., Ajredini, R., Manasi, K., Ortiz, T. V. R., Rijos, E., Bourgon, N. J., Ames, E. S., Garrett, T. J., et al. (2026) · Life Science Alliance · doi:10.26508/lsa.202503555 · Cited by 3 · see citing works
Decoding common and rare noncoding variant effects across cellular and developmental contexts
Marderstein, A. R., Kundu, S., Padhi, E. M., Deshpande, S., Wang, A., Robb, E., Sun, Y., Yun, C. M., Pomales-Matos, D. A., Xie, Y., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02619-6 · Cited by 9 · see citing works
Popova, G., Retallack, H., Kim, C. N., Wang, A., Shin, D., DeRisi, J. L., & Nowakowski, T. J. (2023) · eLife · doi:10.7554/elife.87696.3 · Cited by 3 · see citing works
Gana, S., Serpieri, V., Giorgio, E., Iorio, M., Rognone, E., Pichiecchio, A., Chiappedi, M. A., & Valente, E. M. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63138 · Cited by 3 · see citing works
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
Dawson, A. J., Hovanes, K., Liu, J., Marles, S. L., Greenberg, C. R., Mhanni, A. A., Chudley, A. E., Frosk, P., Sahoo, T., Schanze, D., et al. (2020) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000351 · Cited by 3 · see citing works
Srivastava, M., Suresh, V., & Tole, S. (2024) · Journal of Biosciences · doi:10.1007/s12038-024-00479-y · Cited by 2 · see citing works
Fu, L., Kim, C. A., TOKITA, M., Miyata, Y., Okamoto, N., Makita, Y., Osaka, H., Fujimoto, A., Daida, A., Nirei, J., et al. (2026) · npj Genomic Medicine · doi:10.1038/s41525-026-00561-4 · Cited by 2 · see citing works
Huang, H., Jin, J., Wu, L., Wu, H., Pi, H., Dong, Y., & Xiang, R. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.865181 · Cited by 2 · see citing works
Lim, J. W. C., Bunt, J., Bridges, C. R., Moey, C., Jacobs, M. T., Chen, K., & Richards, L. J. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.12.26.474186 · Cited by 2 · see citing works
Pan, S., Pei, W., Zhang, J., Min, J., & Liu, K. (2025) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2025236 · Cited by 1 · see citing works
Zhang, Q., Yuan, G., Albizzati, E., Yang, J., Zhao, Z., Yu, X., Chang, X., Lee, C. H., Du, H., Lao, Z., et al. (2026) · Neuron · doi:10.1016/j.neuron.2026.08.021 · Cited by 1 · see citing works
Erdogan, S. S., Yilmaz, A. Y., & Kumbasar, A. (2024) · FEBS Letters · doi:10.1002/1873-3468.15010 · Cited by 1 · see citing works
Zhao, J., Chen, P., Ren, Y., Li, S., Zhang, W., Li, Y., & Wang, F. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1550937 · Cited by 1 · see citing works
Popova, G., Retallack, H., Kim, C. N., Wang, A., Shin, D., DeRisi, J. L., & Nowakowski, T. J. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.24.513565 · Cited by 1 · see citing works
Postzygotic and germinal de novo mutations in ASD: exploring their biological rolePreprint
Alonso-González, A., Calaza, M., Amigo, J., González‐Peñas, J., Martínez-Regueiro, Fernández‐Prieto, M., Parellada, M., Rodriguez‐Fontenla, C., & Carracedo, Á. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.21.107987
Popova, G., Retallack, H., Kim, C. N., Shin, D., Wang, A., DeRisi, J. L., & Nowakowski, T. J. (2023) · eLife · doi:10.7554/elife.87696.1
Popova, G., Retallack, H., Kim, C. N., Wang, A., Shin, D., DeRisi, J. L., & Nowakowski, T. J. (2023) · eLife · doi:10.7554/elife.87696.2
Yahya, D., Stoyanova, M., Hachmeriyan, M., & Levkova, M. (2025) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-025-00747-y
Romano, L. E. L., Tsukagoshi, S., Davey, E. E., Ajredini, R., Manasi, K., Ortiz, T. V. R., Rijos, E., Bourgon, N. J., Ames, E. S., Garrett, T. J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.21.671563
Roles of the NFI/CTF gene family in transcription and development: update 2025
Gronostajski, R. M. (2025) · Academia Biology · doi:10.20935/acadbiol8079
Zhang, Q., Yuan, G., Albizzati, E., Yang, J., Zhao, Z., Yu, X., Chang, X., Lee, C. H., Du, H., Lao, Z., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.27.696675
Zhang, Y., Yue, F., Qi, T., & Liu, R. (2026) · Medicine · doi:10.1097/md.0000000000048420
Justice, C. M., Ahn, K., Jung, B., Norman, L. J., Sudre, G. P., Sharp, W. S., Bouyssi-Kobar, M., Choudhury, S., Gligorovic, S., Kundzicz, P. M., et al. (2026) · Human Genetics · doi:10.1007/s00439-026-02840-7
Eynde, N. V., Hérissant, L., Landais, E., Egloff, M., Rio, M., Baujat, G., Giuliano, F., Karmous‐Benailly, H., Coutton, C., Satre, V., et al. (2026) · Clinical Genetics · doi:10.1111/cge.70215
- Authors
- Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., Boppudi, S., Bridges, C. J., Cho, M. T., Dobyns, W. B., Donnai, D., Douglas, J., Earl, D. L., Edwards, T. J., Faivre, L., Fregeau, B., Genevieve, D., Gérard, M., Gatinois, V., Holder-Espinasse, M., Huth, S. F., Izumi, K., Kerr, B., Lacaze, E., Lakeman, P., Mahida, S., Mirzaa, G. M., Morgan, S. M., Nowak, C., Peeters, H., Petit, F., Pilz, D. T., Puechberty, J., Reinstein, E., Rivière, J.-B., Santani, A. B., Schneider, A., Sherr, E. H., Smith-Hicks, C., Wieland, I., Zackai, E., Zhao, X., Gronostajski, R. M., Zenker, M., & Richards, L. J.
- Affiliations
- University Hospital Magdeburg (DE)
- The University of Queensland (AU)
- Amsterdam UMC Location University of Amsterdam (NL)
- Inserm (FR)
- Haukeland University Hospital (NO)
- Seattle Children's Hospital (US)
- Manchester Academic Health Science Centre (GB)
- Boston Children's Hospital (US)
- Université de Bourgogne (FR)
- University of California, San Francisco (US)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Children's Hospital of Philadelphia (US)
- Groupe Hospitalier du Havre (FR)
- Kennedy Krieger Institute (US)
- Universitair Ziekenhuis Leuven (BE)
- Centre Hospitalier Universitaire de Lille (FR)
- Queen Elizabeth University Hospital (GB)
- Tel Aviv University (IL)
- University at Buffalo, State University of New York (US)
- Corresponding author
- Bunt, Jens
- Zenker, Martin
- ORCID
- Bunt, Jens
- Lim, Jonathan W.C.
- Schanze, Denny
- Dean, Ryan J.
- Alders, Marielle
- Berland, Siren
- Boppudi, Sangamitra
- Cho, Megan T.
- Dobyns, William B.
- Earl, Dawn L.
- Edwards, Timothy J.
- Faivre, Laurence
- Huth, Samuel F.
- Izumi, Kosuke
- Kerr, Bronwyn
- Lacaze, Elodie
- Lakeman, Phillis
- Mahida, Sonal
- Mirzaa, Ghayda M.
- Peeters, Hilde
- Petit, Florence
- Puechberty, Jacques
- Reinstein, Eyal
- Rivière, Jean-Baptiste
- Santani, Avni B.
- Sherr, Elliott H.
- Wieland, Ilse
- Zackai, Elaine
- Zhao, Xiaonan
- Gronostajski, Richard M.
- Zenker, Martin
- Richards, Linda J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2018-11
- Volume
- 103
- Issue
- 5
- Pages
- 752-768
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC6218805
- OpenAlex
- W2898850951
- Cited by
- 63
- References
- 84
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 9 · 2023: 7 · 2022: 7 · 2021: 9 · 2020: 7 · 2019: 2
- FWCI
- 2.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Lirias (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (234567890, K08NS092898, 1R01NS092772, 1R01NS058721)
- Bundesministerium für Bildung und Forschung (01GM1519A, LE100100074)
- Queensland Brain Institute
- Ministère des Affaires Sociales et de la Santé
- National Institutes of Health
- New York State Stem Cell Science (C026429, C026714, C030133)
- National Imaging Facility
- National Health and Medical Research Council (GNT1100443, GNT1005751)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- NFIB, haploinsufficiency, intellectual disability, macrocephaly, autism spectrum disorder, attention deficit disorder, conditional knockout mice, neurodevelopmental disorders
- MeSH terms
- Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Corpus Callosum, Female, Humans, Male, Intellectual Disability, Cohort Studies, Mice, Knockout, Codon, Nonsense, Polymorphism, Single Nucleotide, Mice, NFI Transcription Factors, Young Adult, Haploinsufficiency, Megalencephaly
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