WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

The <i>GPR54</i> Gene as a Regulator of Puberty

Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa035322 · Cited by 2,557 · see citing works

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431 · see citing works

Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor

Ohtaki, T., Shintani, Y., Honda, S., Matsumoto, H., Hori, A., Kanehashi, K., Terao, Y., Kumano, S., Takatsu, Y., Masuda, Y., et al. (2001) · Nature · doi:10.1038/35079135 · Cited by 1,447 · see citing works

KiSS-1, a Novel Human Malignant Melanoma Metastasis-Suppressor Gene

Lee, J.-H., Miele, M. E., Hicks, D. J., Phillips, K. K., Trent, J. M., Weissman, B. E., & Welch, D. R. (1996) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/88.23.1731 · Cited by 1,072 · see citing works

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction

Topaloglu, A. K., Reimann, F., Guclu, M., Yalin, A. S., Kotan, L. D., Porter, K. M., Serin, A., Mungan, N. O., Cook, J. R., Ozbek, M. N., et al. (2009) · Nature Genetics · doi:10.1038/ng.306 · Cited by 961 · see citing works

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846 · see citing works

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Dodé, C., Levilliers, J., Dupont, J., Paepe, A. D., Dû, N. L., Soussi-Yanicostas, N., Coimbra, R., Delmaghani, S., Compain-Nouaille, S., Baverel, F., et al. (2003) · Nature Genetics · doi:10.1038/ng1122 · Cited by 822 · see citing works

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Legouis, R., Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., & Caterina, D. (1991) · Cell · doi:10.1016/0092-8674(91)90193-3 · Cited by 678 · see citing works

A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

de Roux, N., Young, J., Misrahi, M., Genet, R., Chanson, P., Schaison, G., & Milgrom, E. (1997) · New England Journal of Medicine · doi:10.1056/nejm199711273372205 · Cited by 518 · see citing works

The Physiology of Gonadotropin-Releasing Hormone (GnRH) Secretion in Men and Women

Crowley, W. F., Filicori, M., Spratt, D. I., & Santoro, N. F. (1985) · Elsevier eBooks · doi:10.1016/b978-0-12-571141-8.50015-9 · Cited by 485 · see citing works

ClustalW-MPI: ClustalW analysis using distributed and parallel computing

Li, K.-B. (2003) · Bioinformatics · doi:10.1093/bioinformatics/btg192 · Cited by 477 · see citing works

Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex.

Simeone, A., Gulisano, M., Acampora, D., Stornaiuolo, A., Rambaldi, A., & Boncinelli, E. (1992) · The EMBO Journal · doi:10.1002/j.1460-2075.1992.tb05319.x · Cited by 473 · see citing works

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M.-L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020175 · Cited by 457 · see citing works

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease

Villavicencio, E. H., Walterhouse, D. O., & Iannaccone, P. M. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62934-6 · Cited by 427 · see citing works

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34538 · Cited by 397 · see citing works

Suppression of metastasis in human breast carcinoma MDA-MB-435 cells after transfection with the metastasis suppressor gene, KiSS-1.

Lee, J., & Welch, D. R. (1997) · PubMed · Cited by 371 · 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

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

Bouligand, J., Ghervan, C., Tello, J. A., Brailly‐Tabard, S., Salenave, S., Chanson, P., Lombès, M., Millar, R. P., Guiochon‐Mantel, A., & Young, J. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900136 · Cited by 262 · see citing works

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism

Layman, L. C., Cohen, D., Jin, M., Xie, J. H., Li, Z., Reindollar, R. H., Bolbolan, S., Bick, D. P., Sherins, R. R., Duck, L. W., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-14 · Cited by 260 · see citing works

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Pitteloud, N., Acierno, J. S., Meysing, A., Eliseenkova, A. V., Ma, J., Ibrahimi, O. A., Metzger, D. L., Hayes, F. J., Dwyer, A. A., Hughes, V. A., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600962103 · Cited by 242 · see citing works

<i>Gli3</i>is required for<i>Emx</i>gene expression during dorsal telencephalon development

Theil, T., Alvarez-Bolado, G., Walter, A., & Rüther, U. (1999) · Development · doi:10.1242/dev.126.16.3561 · Cited by 228 · see citing works

Dorsoventral Patterning of the Telencephalon Is Disrupted in the Mouse Mutant extra-toesJ

Tole, S., Ragsdale, C. W., & Grove, E. A. (2000) · Developmental Biology · doi:10.1006/dbio.1999.9509 · Cited by 196 · see citing works

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

Chan, Y.-M., de Guillebon, A., Lang‐Muritano, M., Plummer, L., Cerrato, F. E., Tsiaras, S. V., Gaspert, A., Lavoie, H. B., Wu, C.-H., Crowley, W. F., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903449106 · Cited by 184 · see citing works

Identification of highly expressed genes in metastasis-suppressed chromosome 6/human malignant melanoma hybrid cells using subtractive hybridization and differential display

Lee, J., & Welch, D. R. (1997) · International Journal of Cancer · doi:10.1002/(sici)1097-0215(19970611)71:6 · Cited by 172 · see citing works

Gene networks and the neuroendocrine regulation of puberty

Ojeda, S. R., Dubay, C., Lomniczi, A., Kaidar, G., Matagne, V., Sandau, U. S., & Dissen, G. A. (2009) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2009.12.003 · Cited by 157 · see citing works

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Higgins, A. W., Alkuraya, F. S., Bosco, A. F., Brown, K. K., Bruns, G. A. P., Donovan, D., Eisenman, R. E., Fan, Y., Farra, C. G., Ferguson, H. L., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.011 · Cited by 148 · see citing works

Emx1 and Emx2 cooperate to regulate cortical size, lamination, neuronal differentiation, development of cortical efferents, and thalamocortical pathfinding

Bishop, K. M., Garel, S., Nakagawa, Y., Rubenstein, J. L. R., & O’Leary, D. D. M. (2003) · The Journal of Comparative Neurology · doi:10.1002/cne.10550 · Cited by 140 · see citing works

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

Miura, K., Acierno, J. S., & Seminara, S. B. (2004) · Journal of Human Genetics · doi:10.1007/s10038-004-0137-4 · Cited by 140 · see citing works

10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case report

Baccetti, B. (2003) · Human Reproduction · doi:10.1093/humrep/deg460 · Cited by 130 · see citing works

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Kalscheuer, V. M., FitzPatrick, D. R., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L. M., Tzschach, A., Shoichet, S. A., Menzel, C., Erdogan, F., et al. (2007) · Human Genetics · doi:10.1007/s00439-006-0284-0 · Cited by 128 · see citing works

Stealing the spotlight: CUL4-DDB1 ubiquitin ligase docks WD40-repeat proteins to destroy.

Higa, L. A., & Zhang, H. (2007) · Cell Division · doi:10.1186/1747-1028-2-5 · Cited by 124 · see citing works

Differential expression of two zebrafish emx homeoprotein mRNAs in the developing brain

Morita, T., Nitta, H., Kiyama, Y., Mori, H., & Mishina, M. (1995) · Neuroscience Letters · doi:10.1016/0304-3940(95)11988-9 · Cited by 123 · see citing works

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

Bhagavath, B., Podolsky, R. H., Özata, M., Bolu, E., Bick, D. P., Kulharya, A. S., Sherins, R. J., & Layman, L. C. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.08.044 · Cited by 110 · see citing works

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

Field, M. J., Tarpey, P. S., Smith, R., Edkins, S., O’Meara, S., Stevens, C., Tofts, C., Teague, J. W., Butler, A. P., Dicks, E., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/520677 · Cited by 89 · see citing works

The Structure of Aip1p, a WD Repeat Protein That Regulates Cofilin-mediated Actin Depolymerization

Voegtli, W. C., Madrona, A. Y., & Wilson, D. K. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m302773200 · Cited by 88 · see citing works

Novel Mechanisms of Fibroblast Growth Factor Receptor 1 Regulation by Extracellular Matrix Protein Anosmin-1

Hu, Y., Guimond, S. E., Travers, P. J., Cadman, S. M., Hohenester, E., Turnbull, J. E., Kim, S., & Bouloux, P.-M. G. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.049155 · Cited by 86 · see citing works

Identification of Functional Residues on Caenorhabditis elegans Actin-interacting Protein 1 (UNC-78) for Disassembly of Actin Depolymerizing Factor/Cofilin-bound Actin Filaments

Mohri, K., Vorobiev, S., Fedorov, A. A., Almo, S. C., & Ono, S. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m403351200 · Cited by 72 · see citing works

The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte–embryo transition

Philipps, D. L., Wigglesworth, K., Hartford, S. A., Sun, F., Pattabiraman, S., Schimenti, K. J., Handel, M. A., Eppig, J. J., & Schimenti, J. C. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.018 · Cited by 70 · see citing works

Unique expression pattern of a novel mosaic receptor in the developing cerebral cortex

Hermans‐Borgmeyer, I., Hampe, W., Schinke, B., Methner, A., Nykjær, A., Süsens, U., Fenger, U., Herbarth, B., & Schaller, H. C. (1998) · Mechanisms of Development · doi:10.1016/s0925-4773(97)00177-9 · Cited by 68 · see citing works

Bilateral Cryptorchidism Associated with Terminal Deletion of 10q

Suzuki, Y., Sasagawa, I., Nakada, T., & Onmura, Y. (1998) · Urologia Internationalis · doi:10.1159/000030321 · Cited by 67 · see citing works

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26

Ogata, T., Muroya, K., Sasagawa, I., Kosho, T., Wakui, K., Sakazume, S., Ito, K., Matsuo, N., Ohashi, H., & Nagai, T. (2000) · Kidney International · doi:10.1046/j.1523-1755.2000.00412.x · Cited by 65 · see citing works

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Kim, H., Herrick, S. R., Lemyre, E., Kishikawa, S., Salisz, J. A., Seminara, S., MacDonald, M. E., Bruns, G. A. P., Morton, C. C., Quade, B. J., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.026989 · Cited by 62 · see citing works

Gonadotropin-Releasing Hormone Neuronal Migration

Schwarting, G. A., Wierman, M. E., & Tobet, S. A. (2007) · Seminars in Reproductive Medicine · doi:10.1055/s-2007-984736 · Cited by 60 · see citing works

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism

Bhagavath, B., Özata, M., Ozdemír, I. C., Bolu, E., Bick, D. P., Sherins, R. J., & Layman, L. C. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.04.029 · Cited by 58 · see citing works

A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells

Chernova, O. B., Hunyadi, A., Malaj, E., Pan, H. H., Crooks, C. F., Roe, B. A., & Cowell, J. K. (2001) · Oncogene · doi:10.1038/sj.onc.1204694 · Cited by 57 · see citing works

The crystal structure of a cross-linked actin dimer suggests a detailed molecular interface in F-actin

Kudryashov, D. S., Sawaya, M. R., Adisetiyo, H., Norcross, T. S., Hegyi, G., Reisler, E., & Yeates, T. O. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506429102 · Cited by 53 · see citing works

Clinical Manifestations of Impaired GnRH Neuron Development and Function

Kim, H., Bhagavath, B., & Layman, L. C. (2008) · Neurosignals · doi:10.1159/000111561 · Cited by 51 · see citing works

Gene Expression Profiling of Hypothalamic Hamartomas: A Search for Genes Associated with Central Precocious Puberty

Parent, A., Matagne, V., Westphal, M., Heger, S., Ojeda, S. R., & Jung, H. (2007) · Hormone Research in Paediatrics · doi:10.1159/000111815 · Cited by 44 · see citing works

empty spiraclesis required for the development of olfactory projection neuron circuitry inDrosophila

Lichtneckert, R., Nobs, L., & Reichert, H. (2008) · Development · doi:10.1242/dev.022210 · Cited by 30 · see citing works

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Tzschach, A., Bisgaard, A., Kirchhoff, M., Graul-Neumann, L. M., Neitzel, H., Page, S., Ahmed, A., Müller, I., Erdogan, F., Ropers, H., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.163 · Cited by 26 · see citing works

Terminal deletion of chromosome 10q at band 26.1: Follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy

Leonard, N., Harley, F. L., & Lin, C. C. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990910)86:2 · Cited by 22 · see citing works

Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.

Lukusa, T., & Fryns, J. P. (2000) · PubMed · Cited by 20 · see citing works

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Schinzel, A., Lorda‐Sánchez, I., Binkert, F., Carter, N. P., Bebb, C., Ferguson-Smith, M. A., Eiholzer, U., ZACHMANN, M., & Robinson, W. P. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.12.957 · Cited by 20 · see citing works

Actin's many actions start at the genes

Franke, W. W. (2004) · Nature Cell Biology · doi:10.1038/ncb1104-1013 · Cited by 19 · see citing works

A familial MCA/MR syndrome due to translocation t(10;16)(q26;p13.1): Report of six cases

Bofinger, M. K., Opitz, J. M., Soukup, S., Ekblom, L. S., Phillips, S., Daniel, A., & Greene, E. W. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380102 · Cited by 15 · see citing works

Isolation and expression analysis of Alzheimer's disease–related gene xb51 in zebrafish

Kim, H., Kim, E., Yoo, K., Lee, M., Choi, J., Park, H., Yeo, S., Lee, D., & Kim, C. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21806 · Cited by 12 · see citing works

Long Arm Deletion of Chromosome 10 in a Boy with Monorchidism

Mutoh, I. S. A. (1999) · Scandinavian Journal of Urology and Nephrology · doi:10.1080/003655999750016357 · Cited by 12 · see citing works

Genetics of male infertility

Krausz, C. G., & Riera‐Escamilla, A. (2018) · Nature Reviews Urology · doi:10.1038/s41585-018-0003-3 · Cited by 953 · 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

Pubertal development and regulation

Abreu, A. P., & Kaiser, U. B. (2016) · The Lancet Diabetes &amp; Endocrinology · doi:10.1016/s2213-8587(15)00418-0 · Cited by 611 · see citing works

Zebrafish as an animal model for biomedical research

Choi, T., Choi, T., Lee, Y., Choe, S., & Kim, C. (2021) · Experimental & Molecular Medicine · doi:10.1038/s12276-021-00571-5 · Cited by 575 · see citing works

A Systematic Mammalian Genetic Interaction Map Reveals Pathways Underlying Ricin Susceptibility

Bassik, M. C., Kampmann, M., Lebbink, R. J., Wang, S., Hein, M. Y., Poser, I., Weibezahn, J., Horlbeck, M. A., Chen, S., Mann, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.030 · Cited by 365 · see citing works

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

Jiao, S.-Y., Yang, Y.-H., & Chen, S. (2020) · Human Reproduction Update · doi:10.1093/humupd/dmaa034 · Cited by 279 · see citing works

Proteomic Analysis of Mammalian Primary Cilia

Ishikawa, H., Thompson, J., Yates, J. R., & Marshall, W. F. (2012) · Current Biology · doi:10.1016/j.cub.2012.01.031 · Cited by 275 · see citing works

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

Hanchate, N. K., Giacobini, P., Lhuillier, P., Parkash, J., Espy, C., Fouveaut, C., Leroy, C., Baron, S., Campagne, C., Vanacker, C., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002896 · Cited by 217 · see citing works

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

Fang, Q., George, A. S., Brinkmeier, M. L., Mortensen, A. H., Gergics, P., Cheung, L., Daly, A. Z., Ajmal, A., Millan, M. I. P., Ozel, A. B., et al. (2016) · Endocrine Reviews · doi:10.1210/er.2016-1101 · Cited by 208 · see citing works

A systematic review and standardized clinical validity assessment of male infertility genes

Oud, M. S., Voložonoka, L., Smits, R. M., Vissers, L. E. L. M., Ramos, L., & Veltman, J. A. (2019) · Human Reproduction · doi:10.1093/humrep/dez022 · Cited by 204 · see citing works

Neurocristopathies: New insights 150 years after the neural crest discovery

Vega‐López, G. A., Cerrizuela, S., Tríbulo, C., & Aybar, M. J. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.05.013 · Cited by 202 · 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

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

Laitinen, E., Vaaralahti, K., Tommiska, J., Eklund, E., Tervaniemi, M. H., Valanne, L. K., & Raivio, T. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-41 · Cited by 193 · see citing works

The many blades of the β-propeller proteins: conserved but versatile

Chen, C. K.-M., Chan, N., & Wang, A. H. ‐. (2011) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2011.07.004 · Cited by 185 · 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

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Costa‐Barbosa, F. A., Balasubramanian, R., Keefe, K. W., Shaw, N. D., Tassan, N. A. A., Plummer, L., Dwyer, A. A., Buck, C. L., Choi, J., Seminara, S. B., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-4116 · Cited by 176 · 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

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory

Mitchell, A. L., Dwyer, A. A., Pitteloud, N., & Quinton, R. (2011) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2011.03.002 · Cited by 150 · see citing works

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

Bouvattier, C. M., Maione, L., Bouligand, J., Dodé, C., Guiochon‐Mantel, A., & Young, J. (2011) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2011.164 · Cited by 143 · see citing works

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Young, J., Métay, C., Bouligand, J., Tou, B., Francou, B., Maione, L., Tosca, L., Sarfati, J., Brioude, F., Esteva, B., et al. (2012) · Human Reproduction · doi:10.1093/humrep/des022 · Cited by 139 · see citing works

Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes

Valdes‐Socin, H., Rubio-Almanza, M., Fernández-Ladreda, M. T., Debray, F. G., Bours, V., & Beckers, A. M. (2014) · Frontiers in Endocrinology · doi:10.3389/fendo.2014.00109 · Cited by 125 · see citing works

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

Kim, O.-H., Cho, H.-J., Han, E., Hong, T. I., Ariyasiri, K., Choi, J. H., Hwang, K.-S., Jeong, Y.-M., Yang, S.-Y., Yu, K., et al. (2017) · Molecular Autism · doi:10.1186/s13229-017-0168-2 · Cited by 123 · see citing works

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

Topaloglu, A. K. (2018) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.2017.s010 · Cited by 110 · see citing works

Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism

Young, J. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1664 · Cited by 107 · see citing works

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Quaynor, S. D., Kim, H., Cappello, E. M., Williams, T., Chorich, L. P., Bick, D. P., Sherins, R. J., & Layman, L. C. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2011.09.046 · Cited by 105 · see citing works

NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing

Freed, E. F., Prieto, J.-L., McCann, K. L., McStay, B., & Baserga, S. J. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002892 · Cited by 99 · see citing works

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, P., Khan, T. N., Szafrański, P., Slattery, L., Streff, H. E., Vetrini, F., Bernstein, J. A., Brown, C., Rosenfeld, J. A., Rednam, S. P., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.014 · Cited by 95 · 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

Isolated and syndromic forms of congenital anosmia

Karstensen, H. G., & Tommerup, N. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01776.x · Cited by 88 · 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

Primary cilia enhance kisspeptin receptor signaling on gonadotropin-releasing hormone neurons

Koemeter-Cox, A., Sherwood, T. W., Green, J. A., Steiner, R. A., Berbari, N. F., Yoder, B. K., Kauffman, A. S., Monsma, P. C., Brown, A., Askwith, C. C., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1403286111 · Cited by 83 · see citing works

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Quaynor, S. D., Bosley, M. E., Duckworth, C. G., Porter, K. R., Kim, S., Kim, H., Chorich, L. P., Sullivan, M. E., Choi, J.-H., Cameron, R. S., et al. (2016) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2016.08.007 · Cited by 79 · see citing works

Endosome-to-TGN Trafficking: Organelle-Vesicle and Organelle-Organelle Interactions

Tu, Y., Zhao, L., Billadeau, D. D., & Jia, D. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00163 · Cited by 78 · see citing works

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Kim, H., Kim, H.-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.005 · Cited by 77 · see citing works

Mutations in FEZF1 Cause Kallmann Syndrome

Kotan, L. D., Hutchins, B. I., Özkan, Y., Demirel, F., Stoner, H., Cheng-Hathaway, P. J., Esen, İ., Gürbüz, F., Bıçakcı, Y. K., Mengen, E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.006 · Cited by 72 · see citing works

PROK2/PROKR2 Signaling and Kallmann Syndrome

Dodé, C., & Rondard, P. (2013) · Frontiers in Endocrinology · doi:10.3389/fendo.2013.00019 · Cited by 71 · see citing works

Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

Karges, B., Joseph, N., de Roux, N., & Karges, W. (2011) · International Journal of Endocrinology · doi:10.1155/2012/147893 · Cited by 70 · see citing works

Neuroendocrine Control of the Menstrual Cycle

Hall, J. E. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00007-x · Cited by 70 · see citing works

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in<i>KISS1</i>/<i>Kiss1</i>

Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2011-0518 · Cited by 68 · see citing works

Genetics of Hypogonadotropic Hypogonadism

Topaloglu, A. K., & Kotan, L. D. (2015) · Endocrine development · doi:10.1159/000438841 · Cited by 63 · 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

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Fan, Y., Zhang, X., Wang, L., Wang, R., Huang, Z., Sun, Y., Yao, R., Huang, X., Ye, J., Han, L., et al. (2017) · Scientific Reports · doi:10.1038/srep44536 · Cited by 61 · see citing works

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Labonne, J. D. J., Lee, K.-H., Iwase, S., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, C.-H., & Kim, H.-G. (2016) · Human Genetics · doi:10.1007/s00439-016-1668-4 · Cited by 61 · see citing works

Pituitary Physiology and Diagnostic Evaluation

Melmed, S. K., Kleinberg, D. L., & Ho, K. K. Y. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0324-5.00008-0 · Cited by 58 · see citing works

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Sarfati, J., Bouvattier, C. M., Bry‐Gauillard, H., Cartes, A., Bouligand, J., & Young, J. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0287-9 · Cited by 57 · see citing works

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

Globa, E., Zelinska, N., Shcherbak, Y., Bignon‐Topalovic, J., Bashamboo, A., & McElreavey, K. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.810782 · Cited by 56 · see citing works

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Kim, Y.-J., Osborn, D. P. S., Lee, J., Araki, M., Araki, K., Mohun, T. J., Känsäkoski, J., Brandstack, N., Kim, H., Miralles, F., et al. (2017) · EMBO Reports · doi:10.15252/embr.201744632 · Cited by 54 · see citing works

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Brauner, R., Bignon‐Topalovic, J., Bashamboo, A., & McElreavey, K. (2020) · PLoS ONE · doi:10.1371/journal.pone.0242358 · Cited by 54 · see citing works

The WDR11 complex facilitates the tethering of AP-1-derived vesicles

Negredo, P. N., Edgar, J. R., Manna, P. T., Antrobus, R., & Robinson, M. S. (2018) · Nature Communications · doi:10.1038/s41467-018-02919-4 · Cited by 49 · see citing works

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism

Izumi, Y., Suzuki, E., Kanzaki, S., Yatsuga, S., Kinjo, S., Igarashi, M., Maruyama, T., Sano, S., Horikawa, R., Sato, N. S., et al. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2014.06.017 · Cited by 49 · 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

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

George, A., Cogliati, T., & Brooks, B. P. (2020) · Experimental Eye Research · doi:10.1016/j.exer.2020.107940 · Cited by 48 · see citing works

The genetic basis of female reproductive disorders: Etiology and clinical testing

Layman, L. C. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.02.016 · Cited by 47 · see citing works

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

McCormack, S. E., Li, D., Kim, Y. J., Lee, J. Y., Kim, S., Rapaport, R., & Levine, M. A. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-00332 · Cited by 45 · see citing works

Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal development

Hou, H., Uusküla-Reimand, L., Makarem, M., Corre, C., Saleh, S., Metcalf, A., Goldenberg, A., Palmert, M. R., & Wilson, M. D. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx246 · Cited by 45 · see citing works

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency

Wahab, F., Quinton, R., & Seminara, S. B. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.05.043 · Cited by 42 · 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

Multiplex precise base editing in cynomolgus monkeys

Zhang, W., Aida, T., del Rosario, R. C. H., Wilde, J. J., Ding, C., Zhang, X., Baloch, Z., Huang, Y., Tang, Y., Li, D., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16173-0 · Cited by 39 · see citing works

Pituitary Physiology and Diagnostic Evaluation

Kaiser, U. B., & Ho, K. K. Y. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00008-3 · Cited by 38 · see citing works

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome

Jarząbek, K., Wołczyński, S., Lesniewicz, R., Plessis, G., & Kottler, M. (2012) · Advances in Medical Sciences · doi:10.2478/v10039-012-0036-4 · Cited by 37 · see citing works

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., & Jamieson, R. V. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.11 · Cited by 36 · see citing works

Identification of HESX1 mutations in Kallmann syndrome

Newbern, K., Natrajan, N., Kim, H., Chorich, L. P., Halvorson, L. M., Cameron, R. S., & Layman, L. C. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.01.149 · Cited by 36 · see citing works

Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism

Amato, L. G. L., Latronico, A. C., & Silveira, L. F. G. (2017) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2017.01.010 · Cited by 36 · see citing works

The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency

Oleari, R., Massa, V., Cariboni, A. M., & Lettieri, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179425 · Cited by 35 · see citing works

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome

Vaaralahti, K., Raivio, T., Koivu, R., Valanne, L. K., Laitinen, E., & Tommiska, J. (2012) · Molecular Syndromology · doi:10.1159/000338706 · Cited by 35 · see citing works

Genetics of hypogonadotropic hypogonadism

Millar, A. C., Faghfoury, H., & Bieniek, J. M. (2021) · Translational Andrology and Urology · doi:10.21037/tau.2020.03.33 · Cited by 34 · 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

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Guo, T., Tu, C., Yang, D., Ding, S., Lei, C., Wang, R., Liu, L., Kang, X., Shen, X., Yang, Y., et al. (2021) · Human Genetics · doi:10.1007/s00439-020-02241-4 · Cited by 34 · see citing works

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome

Mikhael, S., Dugar, S., Morton, M., Chorich, L. P., Tam, K. B., Lossie, A. C., Kim, H., Knight, J., Taylor, H. S., Mukherjee, S., et al. (2021) · Human Genetics · doi:10.1007/s00439-020-02239-y · Cited by 34 · see citing works

Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling

Louden, E. D., Poch, A., Kim, H., Ben‐Mahmoud, A., Kim, S., & Layman, L. C. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111334 · Cited by 34 · see citing works

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective

Al-Sayed, Y., & Howard, S. R. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01261-0 · Cited by 34 · 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

Olfactory System and Demyelination

García‐González, D., Murcia‐Belmonte, V., Clemente, D., & Castro, F. D. (2013) · The Anatomical Record · doi:10.1002/ar.22736 · Cited by 31 · see citing works

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Kim, J. H., Seo, G. H., Kim, G.-H., Huh, J., Hwang, I. T., Jang, J., Yoo, H., & Choi, J. (2018) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/a-0681-6608 · Cited by 30 · see citing works

Shaping the Reproductive System: Role of Semaphorins in Gonadotropin-Releasing Hormone Development and Function

Giacobini, P. (2015) · Neuroendocrinology · doi:10.1159/000431021 · Cited by 30 · see citing works

Homeogene emx1 is required for nephron distal segment development in zebrafish

Morales, E. E., Handa, N., Drummond, B. E., Chambers, J. M., Marra, A. N., Addiego, A., & Wingert, R. A. (2018) · Scientific Reports · doi:10.1038/s41598-018-36061-4 · Cited by 29 · see citing works

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity

Kouri, C., Sommer, G., & Flück, C. E. (2021) · Hormone Research in Paediatrics · doi:10.1159/000519691 · Cited by 29 · see citing works

The WDR11 complex is a receptor for acidic-cluster-containing cargo proteins

Deng, H., Jia, G., Li, P., Tang, Y., Zhao, L., Yang, Q., Zhao, J., Wang, J., Tu, Y., Yong, X., et al. (2024) · Cell · doi:10.1016/j.cell.2024.06.024 · Cited by 28 · see citing works

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator

Stamou, M. I., Ng, S., Brand, H., Wang, H., Plummer, L., Best, L. G., Havlicek, S., Hibberd, M. L., Khor, C. C., Gusella, J. F., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz011 · Cited by 28 · see citing works

Pathology or Normal Variant: What Constitutes a Delay in Puberty?

Villanueva, C., & Argente, J. (2014) · Hormone Research in Paediatrics · doi:10.1159/000362600 · Cited by 27 · see citing works

Genetics of Male Infertility

Krausz, C. G., Rosta, V., Swerdloff, R. S., & Wang, C. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-815236-2.00010-2 · Cited by 24 · 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

WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System

Kim, Y.-J., & Kim, S. (2020) · Endocrinology and Metabolism · doi:10.3803/enm.2020.302 · Cited by 23 · see citing works

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Choucair, N., Ghoch, J. A., Fawaz, A., Mégarbané, A., & Chouery, É. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37211 · Cited by 22 · see citing works

Genetic variation modifies risk for neurodegeneration based on biomarker status

Hohman, T. J., Koran, M. E. I., & Thornton‐Wells, T. A. (2014) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2014.00183 · Cited by 22 · see citing works

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

Aoyama, K., Mizuno, H., Tanaka, T., Togawa, T., Negishi, Y., Ohashi, K., Hori, I., Izawa, M., Hamajima, T., & Saitoh, S. (2017) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0035 · Cited by 21 · see citing works

Pituitary stalk interruption syndrome

Voutetakis, A. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820683-6.00002-6 · Cited by 19 · 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

Epigenetic profiles associated with major depression in the human brain

Bustamante, A. C., Armstrong, D. L., & Uddin, M. (2018) · Psychiatry Research · doi:10.1016/j.psychres.2017.12.010 · Cited by 18 · see citing works

Genetics of pubertal delay

Saengkaew, T., & Howard, S. R. (2021) · Clinical Endocrinology · doi:10.1111/cen.14606 · Cited by 17 · see citing works

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

Sutani, A., Shima, H., Hijikata, A., Hosokawa, S., Fukui, Y., Takasawa, K., Suzuki, E., Doi, S., Shirai, T., Morio, T., et al. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.01.016 · Cited by 17 · see citing works

Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease

Marino, M., Moriondo, V., Vighi, E., Pignatti, E., & Simoni, M. (2014) · International Journal of Endocrinology · doi:10.1155/2014/649154 · Cited by 16 · see citing works

Point mutations in KAL1 and the mitochondrial gene MT-tRNAcys synergize to produce Kallmann syndrome phenotype

Wang, F., Huang, G., Tian, H., Zhong, Y., Shi, H., Li, Z., Zhang, X., Wang, H., & Sun, F. (2015) · Scientific Reports · doi:10.1038/srep13050 · Cited by 15 · see citing works

Puberty and its disorders in the male

Palmert, M. R., Dunkel, L., & Witchel, S. F. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00026-3 · Cited by 15 · see citing works

Genetics of congenital olfactory dysfunction: a systematic review of the literature

Deller, M., Gellrich, J., Lohrer, E. C., & Schriever, V. A. (2022) · Chemical Senses · doi:10.1093/chemse/bjac028 · Cited by 15 · see citing works

Dysbindin-Associated Proteome in the P2 Synaptosome Fraction of Mouse Brain

Han, M.-H., Hu, Z., Chen, C. Y., Chen, Y., Guček, M., Li, Z., & Markey, S. P. (2014) · Journal of Proteome Research · doi:10.1021/pr500656z · Cited by 15 · see citing works

The role of WD40 repeat-containing proteins in endocrine (dys)function

Hu, Y., Bruinstroop, E., Hollenberg, A. N., Fliers, E., & Boelen, A. (2023) · Journal of Molecular Endocrinology · doi:10.1530/jme-22-0217 · Cited by 14 · see citing works

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Haag, N., Tan, E., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A., Brett, M., Mochida, G. H., DiTroia, S. P., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00943-5 · Cited by 14 · see citing works

The loss of scents: Do defects in olfactory sensory neuron development underlie human disease?

Whitlock, K. E. (2015) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21094 · Cited by 14 · 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

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Castro, S., Brunello, F., Sansó, G., Scaglia, P. A., Azcoiti, M. E., Izquierdo, A., Villegas, F., Bergadá, I., Ropelato, M. G., Marti, M. A., et al. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.887658 · Cited by 3 · see citing works

WDR11 Mutations as A Potential Player of Idiopathic Hypogonadotropic Hypogonadism

Imai, A. (2020) · Biomedical Journal of Scientific & Technical Research · doi:10.26717/bjstr.2020.28.004662 · Cited by 2 · see citing works

Loss of Kallmann syndrome-associated gene WDR11 disrupts primordial germ cell development by affecting canonical and non-canonical Hedgehog signallingPreprint

Lee, J., Kim, Y.-J., Ataliotis, P., Kim, H., Kim, D., Bennett, D. C., Brown, N. A., Layman, L. C., & Kim, S. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.06.284927 · Cited by 2 · see citing works

Kallmann syndrome-associated WDR11 regulates primordial germ cell development

Lee, J. Y., Kim, Y. J., Ataliotis, P., Bennett, D. C., BROWN, N. S., & Kim, S. (2019) · Endocrine Abstracts · doi:10.1530/endoabs.65.oc6.4