Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281 · see citing works

Protein structure homology modeling using SWISS-MODEL workspace

Bordoli, L., Kiefer, F., Arnold, K., Benkert, P., Battey, J. N. D., & Schwede, T. F. (2008) · Nature Protocols · doi:10.1038/nprot.2008.197 · Cited by 1,218 · see citing works

Origin of luteinizing hormone-releasing hormone neurons

Schwanzel-Fukuda, M., & Pfaff, D. W. (1989) · Nature · doi:10.1038/338161a0 · Cited by 1,116 · see citing works

Performance of mutation pathogenicity prediction methods on missense variants

Thusberg, J., Olatubosun, A., & Vihinen, M. (2011) · Human Mutation · doi:10.1002/humu.21445 · Cited by 537 · see citing works

Updated diagnostic criteria for CHARGE syndrome: A proposal

Verloès, A. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30559 · Cited by 382 · see citing works

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Sykiotis, G. P., Plummer, L., HUGHES, V. A., Au, M., Durrani, S., Nayak-Young, S., Dwyer, A. A., Quinton, R., Hall, J. E., Gusella, J. F., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1009622107 · Cited by 356 · see citing works

A graphical interface for the FoldX forcefield

Durme, J. V., Delgado, J., Stricher, F., Serrano, L. G., Schymkowitz, J. W. H., & Rousseau, F. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr254 · Cited by 340 · see citing works

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.005 · Cited by 338 · see citing works

CHARGE syndrome: an update

Sanlaville, D., & Verloes, A. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201778 · Cited by 332 · see citing works

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Bergman, J. E. H., Janssen, N., Hoefsloot, L. H., Jongmans, M. C. J., Hofstra, R. M. W., & van Ravenswaaij‐Arts, C. M. A. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.087106 · Cited by 319 · see citing works

CHARGE syndrome

BLAKE, K. D., & Prasad, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-34 · Cited by 279 · see citing works

Mutation update on the CHD7 gene involved in CHARGE syndrome

Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjærg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij‐Arts, C. M. A., & Hoefsloot, L. H. (2012) · Human Mutation · doi:10.1002/humu.22086 · Cited by 263 · see citing works

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

Jongmans, M. C. J., van Ravenswaaij‐Arts, C. M. A., Pitteloud, N., Ogata, T., Sato, N. S., der Grinten, H. L. C., van der Donk, K. P., Seminara, S., Bergman, J., Brunner, H. G., et al. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01107.x · Cited by 210 · see citing works

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Pingault, V., Bodereau, V., Baral, V., Marcos, S., Watanabe, Y., Chaoui, A., Fouveaut, C., Leroy, C., Verier‐Mine, O., Francannet, C., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.024 · Cited by 207 · see citing works

CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development

Pinto, G., Abadie, V., Mesnage, R., Blustajn, J., Cabrol, S., Amiel, J., Hertz‐Pannier, L., Bertrand, A.-M., Lyonnet, S., Rappaport, R., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2474 · Cited by 153 · see citing works

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Schulz, Y., Wehner, P., Opitz, L., Salinas, G., Bongers, E. M. H. F., van Ravenswaaij‐Arts, C. M. A., Wincent, J., Schoumans, J., Kohlhase, J., Borchers, A., et al. (2014) · Human Genetics · doi:10.1007/s00439-014-1444-2 · Cited by 121 · see citing works

Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability

Delahaye‐Duriez, A., Sznajer, Y., Lyonnet, S., Elmaleh, M., Delpierre, I., Audollent, S., Vacher, S. R. W., Mansbach, A. L., Amiel, J., Baumann, C., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00821.x · Cited by 92 · see citing works

Role of Chd7 in Zebrafish: A Model for CHARGE Syndrome

Patten, S. A., Jacobs, N. L., Zaouter, C., Drapeau, P., Albertson, R. C., & Moldovan, F. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031650 · Cited by 85 · see citing works

The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

Marcos, S., Sarfati, J., Leroy, C., Fouveaut, C., Parent, P., Metz, C., Wołczyński, S., Gérard, M., Bieth, É., Kurtz, F., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2110 · Cited by 85 · see citing works

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjærg, L., Hoefsloot, L. H., van Ravenswaaij‐Arts, C. M. A., & Hofstra, R. M. W. (2012) · Human Mutation · doi:10.1002/humu.22106 · Cited by 73 · see citing works

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

Balasubramanian, R., & Crowley, W. F. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.07.012 · Cited by 68 · see citing works

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

Layman, W. S., Hurd, E. A., & Martin, D. M. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr216 · Cited by 68 · see citing works

The Results ofCHD7Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

Bergman, J. E. H., de Ronde, W., Jongmans, M. C. J., Wolffenbuttel, B. H. R., Drop, S. L. S., Hermus, A. R., Bocca, G., Hoefsloot, L. H., & van Ravenswaaij‐Arts, C. M. A. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2652 · Cited by 62 · see citing works

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

Bergman, J. E. H., Bosman, E. A., van Ravenswaaij‐Arts, C. M. A., & Steel, K. P. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.158 · Cited by 52 · see citing works

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

Bartels, C. F., Scacheri, C., White, L., Scacheri, P. C., & Bale, S. J. (2010) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2010.0101 · Cited by 50 · see citing works

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Vuorela, P. E., Ala‐Mello, S., Saloranta, C., Penttinen, M. T., Pöyhönen, M., Huoponen, K., Borozdin, W., Bausch, B., Botzenhart, E., Wilhelm, C., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e318156e68e · Cited by 49 · see citing works

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

Pauli, S., von Velsen, N., Burfeind, P., Steckel, M., Mänz, J., Buchholz, A., Borozdin, W., & Kohlhase, J. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01701.x · Cited by 26 · see citing works

Single-fiber PCR in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype

Silvestri, G., Rana, M., Odoardi, F., Modoni, A., Paris, E., Papacci, M., Tonali, P., & Servidei, S. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000918)94:3 · Cited by 25 · see citing works

Identification of CHD 7S as a novel splicing variant of CHD 7 with functions similar and antagonistic to those of the full‐length CHD 7L

Kita, Y., Nishiyama, M., & Nakayama, K. I. (2012) · Genes to Cells · doi:10.1111/j.1365-2443.2012.01606.x · Cited by 21 · see citing works

The developmental biology of the GnRH neurons

Crowley, W. F. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.06.023 · Cited by 15 · see citing works

Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase

Colin, C., Tobaruella, F. S., Correa, R. G., Sogayar, M. C., & Demasi, M. A. A. (2010) · BMC Research Notes · doi:10.1186/1756-0500-3-252 · Cited by 10 · see citing works

CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

Foppiani, L., Maffé, A., & Forzano, F. (2010) · Andrologia · doi:10.1111/j.1439-0272.2009.00994.x · Cited by 6 · see citing works

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

Boehm, U., Bouloux, P.-M., Dattani, M. T., de Roux, N., Dodé, C., Dunkel, L., Dwyer, A. A., Giacobini, P., Hardelin, J.-P., Juul, A., et al. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.112 · Cited by 874 · see citing works

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

Stamou, M. I., & Georgopoulos, N. A. (2017) · Metabolism · doi:10.1016/j.metabol.2017.10.012 · Cited by 194 · see citing works

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

Cangiano, B., Swee, D. S., Quinton, R., & Bonomi, M. (2020) · Human Genetics · doi:10.1007/s00439-020-02147-1 · Cited by 182 · see citing works

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

Maione, L., Dwyer, A. A., Francou, B., Guiochon‐Mantel, A., Binart, N., Bouligand, J., & Young, J. (2018) · European Journal of Endocrinology · doi:10.1530/eje-17-0749 · Cited by 153 · see citing works

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Hale, C. L., Niederriter, A. N., Green, G. E., & Martin, D. M. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37435 · Cited by 147 · see citing works

Delayed Puberty—Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries

Howard, S. R., & Dunkel, L. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00248 · Cited by 114 · see citing works

Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome

Cho, H., Shan, Y., Whittington, N. C., & Wray, S. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00121 · Cited by 89 · see citing works

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

van Ravenswaaij‐Arts, C. M. A., & Martin, D. M. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31592 · Cited by 80 · see citing works

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

Xu, C., Cassatella, D., van der Sloot, A. M., Quinton, R., Hauschild, M., Geyter, C. D., Flück, C. E., Feller, K., Bartholdi, D., Nemeth, A., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.197 · Cited by 59 · see citing works

The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs

Taroc, E. Z. M., Prasad, A., Lin, J. M., & Forni, P. E. (2017) · Biology Open · doi:10.1242/bio.029074 · Cited by 56 · see citing works

Zebrafish models of human eye and inner ear diseases

Blanco‐Sánchez, B., Clément, A., Phillips, J. B., & Westerfield, M. (2016) · Methods in cell biology · doi:10.1016/bs.mcb.2016.10.006 · Cited by 51 · see citing works

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Bouilly, J., Messina, A., Papadakis, G. E., Cassatella, D., Xu, C., Acierno, J. S., Tata, B. K., Sykiotis, G. P., Santini, S., Sidis, Y., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx408 · Cited by 48 · see citing works

Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism

Zhou, C., Niu, Y., Xu, H., Li, Z., Wang, T., Yang, W., Wang, S., Wang, D. W., & Liu, J. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.04.010 · Cited by 43 · see citing works

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Balasubramanian, R., & Crowley, W. F. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31585 · Cited by 42 · see citing works

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

Dwyer, A. A., Chavan, N. R., Lewkowitz-Shpuntoff, H., Plummer, L., Hayes, F. J., Seminara, S. B., Crowley, W. F., Pitteloud, N., & Balasubramanian, R. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02697 · Cited by 41 · see citing works

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Bélanger, C., Bérubé‐Simard, F., Leduc, E., Bernas, G., Campeau, P. M., Lalani, S. R., Martin, D. M., Bielas, S. L., Moccia, A., Srivastava, A., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1715378115 · Cited by 43 · see citing works

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature

Neocleous, V., Fanis, P., Toumba, M., Tanteles, G. A., Schiza, M., Cinarli, F., Nicolaides, N. C., Oulas, A., Spyrou, G. M., Mantzoros, C. S., et al. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00626 · Cited by 34 · see citing works

Puberty

Witchel, S. F., & Topaloglu, A. K. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00017-2 · Cited by 40 · see citing works

Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era

Stamou, M. I., Cox, K. H., & Crowley, W. F. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1045.2016.1.test · Cited by 32 · see citing works

Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease

Feng, W., Shao, C., & Liu, H. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00309 · Cited by 31 · see citing works

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

Stamou, M. I., Brand, H., Wang, M., Wong, I., Lippincott, M. F., Plummer, L., Crowley, W. F., Talkowski, M. E., Seminara, S. B., & Balasubramanian, R. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac300 · Cited by 25 · see citing works

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

Gonçalves, C. I., Patriarca, F. M., Aragüés, J. M., Carvalho, D. M., Fonseca, F., Martins, S. A., Marques, O., Pereira, B. D., Martinez‐de‐Oliveira, J., & Lemos, M. C. (2019) · Scientific Reports · doi:10.1038/s41598-018-38178-y · Cited by 25 · see citing works

GnRH-1 Neural Migration From the Nose to the Brain Is Independent From Slit2, Robo3 and NELL2 Signaling

Taroc, E. Z. M., Lin, J. M., Tulloch, A. J., Jaworski, A., & Forni, P. E. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00070 · Cited by 25 · see citing works

CHD7 Regulates Osteogenic Differentiation of Human Dental Follicle Cells via PTH1R Signaling

Liu, C., Li, Q., Xiao, Q., Gong, P., & Kang, N. (2020) · Stem Cells International · doi:10.1155/2020/8882857 · Cited by 24 · see citing works

Neurobiology of puberty and its disorders

Witchel, S. F., & Plant, T. M. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820683-6.00033-6 · Cited by 23 · see citing works

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism

Vezzoli, V., Hrvat, F., Goggi, G., Federici, S., Cangiano, B., Quinton, R., Persani, L., & Bonomi, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1069741 · Cited by 24 · see citing works

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

Davis, E. E., Balasubramanian, R., Kupchinsky, Z. A., Keefe, D. L., Plummer, L., Khan, K., Męczekalski, B., Heath, K. E., López‐González, V., Ballesta‐Martínez, M. J., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa120 · Cited by 23 · see citing works

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Gotby, A. O., Söder, O., Frisén, L., Serlachius, E., Bölte, S., Almqvist, C., Larsson, H., Lichtenstein, P., & Tammimies, K. (2019) · Journal of Neuroendocrinology · doi:10.1111/jne.12803 · Cited by 23 · see citing works

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort

Barroso, P. S., Jorge, A. A. L., Lerário, A. M., Montenegro, L. R., Vasques, G. A., Amato, L. G. L., Silveira, L. F. G., Mendonca, B. B., & Latronico, A. C. (2019) · Neuroendocrinology · doi:10.1159/000504783 · Cited by 23 · see citing works

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome

Barraud, S., Delemer, B., Poirsier-Violle, C., Bouligand, J., Mérol, J., Grange, F., Higel-Chaufour, B., Decoudier, B., Zalzali, M., Dwyer, A. A., et al. (2020) · Neuroendocrinology · doi:10.1159/000506640 · Cited by 24 · see citing works

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort

Li, J., Wu, J., Zhao, Y., Wang, X., Jiang, F., Hou, Q., Chen, D., Zheng, R., Yu, R., Zhou, W., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz182 · Cited by 21 · see citing works

Delayed and Precocious Puberty: Genetic Underpinnings and Treatments

Gohil, A., & Eugster, E. A. (2020) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2020.08.002 · Cited by 21 · see citing works

Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience

Cho, C.-Y., Tsai, W., Lee, C.-T., Liu, S., Huang, S.-Y., Chien, Y., Hwu, W., Lee, N., & Tung, Y. (2021) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2021.03.010 · Cited by 18 · see citing works

Puberty and Its Disorders

Howard, S. R., de Roux, N., Léger, J., Carel, J., & Dunkel, L. (2019) · Wiley eBooks · doi:10.1002/9781119152712.ch7 · Cited by 19 · see citing works

On‐going consequences of in utero exposure of Pb: An epigenetic perspective

Tasin, F. R., Ahmed, A., Halder, D., & Mandal, C. (2022) · Journal of Applied Toxicology · doi:10.1002/jat.4287 · Cited by 18 · see citing works

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Ayers, K. L., Bouty, A., Robevska, G., van den Bergen, J. A., Juniarto, A. Z., Listyasari, N. A., Sinclair, A. H., & Faradz, S. M. (2017) · Human Genomics · doi:10.1186/s40246-017-0098-2 · Cited by 19 · see citing works

Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

van Dijk, D. P., Bocca, G., & van Ravenswaaij‐Arts, C. M. A. (2019) · Journal of Multidisciplinary Healthcare · doi:10.2147/jmdh.s175713 · Cited by 18 · see citing works

Illuminating the terminal nerve: Uncovering the link between GnRH‐1 neuron and olfactory development

Amato, E., Taroc, E. Z. M., & Forni, P. E. (2024) · The Journal of Comparative Neurology · doi:10.1002/cne.25599 · Cited by 19 · see citing works

Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

Festa, A., Umano, G. R., del Giudice, E. M., & Grandone, A. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00253 · Cited by 16 · see citing works

Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing

Zhang, Q., He, H., Janjua, M. U., Wang, F., Yang, Y., Mo, Z., Liu, J., & Jin, P. (2020) · Andrologia · doi:10.1111/and.13594 · Cited by 15 · see citing works

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Sun, Y., Kumar, S. R., Wong, C. E. D., Tian, Z., Bai, H., Crump, J. G., Bajpai, R., & Lien, C. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1030587 · Cited by 13 · see citing works

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era

Stamou, M. I., Cox, K. H., & Crowley, W. F. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1045.2016.1 · Cited by 12 · see citing works

The CHARGE syndrome ortholog CHD-7 regulates TGF-β pathways in Caenorhabditis elegans

Jofré, D. M., Hoffman, D. K., Cervino, A. S., Hahn, G. M., Grundy, M. K., Yun, S., Amrit, F. R. G., Stolz, D. B., Godoy, L. F., Salvatore, E., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2109508119 · Cited by 12 · see citing works

Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorate disease-like phenotypes in embryo

Asad, Z., & Sachidanandan, C. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.04.018 · Cited by 12 · see citing works

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series

Cannarella, R., Gusmano, C., Condorelli, R. A., Bernini, A., Kaftalli, J., Maltese, P. E., Paolacci, S., Dautaj, A., Marceddu, G., Bertelli, M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087428 · Cited by 11 · see citing works

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

Acierno, J. S., Xu, C., Papadakis, G. E., Niederländer, N. J., Rademaker, J. D., Meylan, J., Messina, A., Kolesińska, Z., Quinton, R., Lang‐Muritano, M., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0896-0 · Cited by 11 · see citing works

HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7

Hsieh, F., Ji, F., Damle, M., Sadreyev, R. I., & Kingston, R. E. (2021) · Life Science Alliance · doi:10.26508/lsa.202101127 · Cited by 9 · see citing works

Genetic Profiles and Three-year Follow-up Study of Chinese Males with Congenital Hypogonadotropic Hypogonadism

Zhang, L., Gao, Y., Du, Q., Liu, L., Li, Y., Dey, S. K., Banerjee, S., & Liao, Z. (2021) · The Journal of Sexual Medicine · doi:10.1016/j.jsxm.2021.07.001 · Cited by 9 · see citing works

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

Cassin, J., Stamou, M. I., Keefe, K. W., Sung, K. E., Bojo, C., Tonsfeldt, K. J., Rojas, R. A., Lopes, V. F., Plummer, L., Salnikov, K. B., et al. (2023) · JCI Insight · doi:10.1172/jci.insight.164324 · Cited by 8 · see citing works

Knockout, Knockdown, and the Schrödinger Paradox: Genetic Immunity to Phenotypic Recapitulation in Zebrafish

Arana, Á. J., & Sanchez, L. E. (2024) · Genes · doi:10.3390/genes15091164 · Cited by 8 · see citing works

Transcriptional and spatiotemporal regulation of the dauer program

Godoy, L. F., & Hochbaum, D. (2023) · Transcription · doi:10.1080/21541264.2023.2190295 · Cited by 9 · see citing works

Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH

Kałużna, M., Budny, B., Rabijewski, M., Dubiel, A., Trofimiuk–Müldner, M., Szutkowski, K., Piotrowski, A., Wrotkowska, E., Hubalewska–Dydejczyk, A., Ruchała, M., et al. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1396805 · Cited by 6 · see citing works

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics

Sun, B., Wang, X., Mao, J., Zhao, Z., Zhang, W., Nie, M., & Wu, X. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2021.770680 · Cited by 6 · see citing works

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Kim, J. H., Choi, Y., Hwang, S., Kim, G.-H., Yoo, H., & Choi, J. (2022) · Endocrine Connections · doi:10.1530/ec-21-0522 · Cited by 5 · see citing works

Expanding the reproductive organ phenotype of CHD7‐spectrum disorder

Nomakuchi, T. T., Danowitz, M., Stewart, B., Leonard, J., Izumi, K., Krantz, I. D., Kolon, T. F., Langdon, D. R., Skraban, C. M., Batavia, J. V., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63148 · Cited by 5 · see citing works

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese

Chen, H., Chen, G., Li, F., Huang, Y. H., Zhu, L., Zhao, Y., Jiang, Z., Yan, X., & Yu, L. (2024) · Biology of Sex Differences · doi:10.1186/s13293-024-00648-6 · Cited by 5 · see citing works

Congenital Hypogonadotropic Hypogonadism (Isolated GnRH Deficiency)

Xu, C., & Pitteloud, N. (2019) · Contemporary Endocrinology · doi:10.1007/978-3-030-11339-1_12 · Cited by 5 · see citing works

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Driesen, J., Hoecke, H. V., Maes, L., Janssens, S., Acke, F. R. E., & Leenheer, E. D. (2024) · Genes · doi:10.3390/genes15050643 · Cited by 3 · see citing works

Overview of Congenital Hypopituitarism for the Neonatologist

Bautista, G. M. (2022) · NeoReviews · doi:10.1542/neo.23-5-e300 · Cited by 3 · see citing works

Illuminating the Terminal Nerve: Uncovering the Link between GnRH-1 and Olfactory DevelopmentPreprint

Amato, E., Taroc, E. Z. M., & Forni, P. E. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.31.555770 · Cited by 3 · see citing works

A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report

Xu, W., Zhou, W., Lin, H., Ye, D., Chen, G., Dong, F., & Shen, J. (2021) · BMC Endocrine Disorders · doi:10.1186/s12902-021-00836-0 · Cited by 2 · see citing works

ATPase-deficient CHD7 disease variant disrupts neural development via chromatin dysregulation

Wang, G., Huang, Z., He, C., Wang, Z., Dong, S., Zhu, M., Lan, F., Zhou, W., & Feng, W. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.08.012 · Cited by 2 · see citing works

Analyzing the effect of deleterious non-synonymous SNPs causing CHARGE syndrome associated with the CHD7 protein using computational approaches

Rathinam, N. S., Kumar, M. P. N., Walter, C. E. J., & Ramasamy, M. (2022) · Journal of Proteins and Proteomics · doi:10.1007/s42485-021-00082-x · Cited by 2 · see citing works

Congenital Hypogonadotropic Hypogonadism in Males: Clinical Features and Pathophysiology

Balasubramanian, R., & Crowley, W. F. (2017) · Contemporary Endocrinology · doi:10.1007/978-3-319-53298-1_5 · Cited by 2 · see citing works

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant

Petrov, S. V., Babadzhanova, E., Orbetzova, M. M., & Ivanov, H. Y. (2023) · Clinical Case Reports · doi:10.1002/ccr3.7492 · Cited by 1 · see citing works

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Obata, Y., Takayama, K., Nishikubo, H., Tobimatsu, A., Matsuda, I., Uehara, Y., Maruo, Y., Sho, H., Kosugi, M., & Yasuda, T. (2023) · BMC Endocrine Disorders · doi:10.1186/s12902-023-01373-8 · Cited by 1 · see citing works

Hormonal Manifestations of Endocrine Diseases

Singh, J., Kottarath, S. K., Bano, F., Farhan, M., Tripathi, A. K., & Srivastava, Y. (2024) · Springer eBooks · doi:10.1007/978-981-97-4723-8_11 · Cited by 1 · see citing works

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review

Wu, J., Huang, Z., Zhu, B., Zou, R., Tan, Y., Yao, W., Yang, Y. J., & Xiong, T. (2025) · BMC Pediatrics · doi:10.1186/s12887-025-06251-x · Cited by 1 · see citing works

Chromo Domain Proteins

Eissenberg, J. C. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802389-1.00006-x

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Bouilly, J., Messina, A., Papadakis, G. E., Cassatella, D., Xu, C., Acierno, J. S., Tata, B. K., Sykiotis, G. P., Santini, S., Sidis, Y., et al. (2018) · Yearbook of pediatric endocrinology · doi:10.1530/ey.15.7.10

Pesquisa de novos fatores genéticos no atraso constitucional do crescimento e desenvolvimento humano

Barroso, P. S. (2020) · doi:10.11606/t.5.2020.tde-10032020-152009

Male hypogonadotropic hypogonadism in various genetic disorders

Niedobylski, S., Laszczak, K., Warchoł, K., Marczak, A., Dobosz, M., Lewicki, M., & Obel, E. (2020) · Journal of Education Health and Sport · doi:10.12775/jehs.2020.10.09.017

Prediction of Deleterious nsSNPs Causing CHARGE Syndrome Associated with the CHD7 Protein using Computational ApproachesPreprint

Rathinam, N. S., Madhana Priya, N., & Ramasamy, M. (2021) · Research Square · doi:10.21203/rs.3.rs-233256/v1

Does residual virus replication during successful HAART lead to HIV-1 genetic evolution?

Aquaro, S., Svicher, V., & Perno, C. F. (2006) · PubMed

A Clinical Case of Hypogonadism and Anosmia Associated with a New Mutation of the KAL1/ ANOS1 Gene

Del, P. M., Fabrizio, M., Sacco, G. D., Federico, V., Gavazzi, L., Luca, P., & Bonomi, M. (2023) · Annals of Case Reports · doi:10.29011/2574-7754.101294

Additional file 2 of Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese

Chen, H., Chen, G., Li, F., Huang, Y., Zhu, L., Zhao, Y., Jiang, Z., Yan, X., & Yu, L. (2024) · Figshare · doi:10.6084/m9.figshare.27042284

Additional file 1 of Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese

Chen, H., Chen, G., Li, F., Huang, Y., Zhu, L., Zhao, Y., Jiang, Z., Yan, X., & Yu, L. (2024) · Figshare · doi:10.6084/m9.figshare.27042281

Development of a functional assay for CHD7, a protein involved in CHARGE syndrome

Brajadenta, G. S. (2019) · theses.fr (ABES) · doi:10.70675/4fbb6e82ze10az420czadafze974d3fb997c

Novel CHD7 Variants Associated with an Expanded Orofacial and Dental Phenotype

Kamolvisit, W., Porntaveetus, T., Arunratanothai, T., Theerapanon, T., Kawasaki, K., Ohazama, A., Rochanavibhata, S., Chaisuparat, R., Cheawsamoot, C., Buasong, A., et al. (2026) · European Journal of Dentistry · doi:10.1055/s-0046-1824591

Establishing the role of ZBTB20 mutations in GnRH deficiency and impaired neurogenesis in the subventricular zone: a human cohort and animal model study

Guan, J., Zhu, J., Li, Y., Nie, M., Zhang, J., Chen, Z., Liu, H., Chen, D., Zheng, R., Men, M., et al. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106416

Chromo domain proteins: Forms and functions

Eissenberg, J. C. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-19001-8.00009-x

Generation and Validation of a GnRH‐iCreERT2‐tdTomato Mouse Line for Genetic Manipulation in GnRH Neurons

Dong, S., Han, Z., He, Y., Wang, Z., Qi, D., & Feng, W. (2026) · genesis · doi:10.1002/dvg.70072

Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Balasubramanian, R., & Crowley, W. F. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31585 · Cited by 42 · see citing works

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.005 · Cited by 338 · see citing works

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort

Li, J., Wu, J., Zhao, Y., Wang, X., Jiang, F., Hou, Q., Chen, D., Zheng, R., Yu, R., Zhou, W., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz182 · Cited by 21 · see citing works

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H., & Layman, L. C. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.07.013 · Cited by 48 · see citing works

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.

Xu, C., Cassatella, D., van der Sloot, A. M., Quinton, R., Hauschild, M., De Geyter, C., Flück Pandey, C. E., Feller, K., Bartholdi, D., Nemeth, A., et al. (2018) · Open Access CRIS of the University of Bern · doi:10.7892/boris.109627