{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T17:47:49Z","timestamp":1790531269848,"version":"4.1.0"},"reference-count":75,"publisher":"Oxford University Press (OUP)","issue":"2","funder":[{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["# 310030_173260"],"award-info":[{"award-number":["# 310030_173260"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,15]]},"DOI":"10.1093\/hmg\/ddx408","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T17:46:47Z","timestamp":1511977607000},"page":"359-372","source":"Crossref","is-referenced-by-count":47,"title":["DCC\/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development"],"prefix":"10.1093","volume":"27","author":[{"given":"Justine","family":"Bouilly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Messina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Papadakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Cassatella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James S","family":"Acierno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke","family":"Tata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerasimos","family":"Sykiotis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Santini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yisrael","family":"Sidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eglantine","family":"Elowe-Gruau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Phan-Hug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hauschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Marc","family":"Bouloux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Quinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarosaria","family":"Lang-Muritano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Favre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Giacobini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A","family":"Dwyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas J","family":"Niederl\u00e4nder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Pitteloud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,11,30]]},"reference":[{"key":"key\n\t\t\t\t20180105052516_ddx408-B1","volume-title":"GnRH: The Master Molecule of Reproduction","year":"2002"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B2","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1111\/j.1365-2826.2010.02034.x","article-title":"From nose to brain: development of gonadotrophin-releasing hormone-1 neurones","volume":"22","year":"2010","journal-title":"J. Neuroendocrinol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/338161a0","article-title":"Origin of luteinizing hormone-releasing hormone neurons","volume":"338","year":"1989","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.yfrne.2010.07.005","article-title":"Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function","volume":"32","year":"2011","journal-title":"Front. Neuroendocrinol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B5","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism\u2013pathogenesis, diagnosis and treatment","volume":"11","year":"2015","journal-title":"Nat. Rev. Endocrinol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B6","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0959-437X(05)80152-2","article-title":"The gene for X-linked Kallmann syndrome: a human neuronal migration defect","volume":"2","year":"1992","journal-title":"Curr. Opin. Genet. Dev"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B7","first-page":"249","article-title":"Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory","volume":"22","year":"2011","journal-title":"Trends Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B8","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1172\/JCI29884","article-title":"Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism","volume":"117","year":"2007","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B9","doi-asserted-by":"crossref","first-page":"15140","DOI":"10.1073\/pnas.1009622107","article-title":"Oligogenic basis of isolated gonadotropin-releasing hormone deficiency","volume":"107","year":"2010","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B10","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0092-8674(91)90193-3","article-title":"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules","volume":"67","year":"1991","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B11","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/978-1-4614-8090-7_12","article-title":"The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond","volume":"8","year":"2014","journal-title":"Adv. Neurobiol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B12","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1210\/jc.2013-3426","article-title":"Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism","volume":"99","year":"2014","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B13","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2013.04.008","article-title":"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism","volume":"92","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B14","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1038\/ng0794-408","article-title":"MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM","volume":"7","year":"1994","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B15","doi-asserted-by":"crossref","first-page":"592.","DOI":"10.1126\/science.1186463","article-title":"Mutations in DCC cause congenital mirror movements","volume":"328","year":"2010","journal-title":"Science"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B16","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/ng.3794","article-title":"Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance","volume":"49","year":"2017","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B17","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/j.ajhg.2010.02.015","article-title":"Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction","volume":"86","year":"2010","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B18","doi-asserted-by":"crossref","first-page":"E943","DOI":"10.1210\/jc.2012-4116","article-title":"Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes","volume":"98","year":"2013","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B19","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1523\/JNEUROSCI.21-03-00911.2001","article-title":"Deleted in colorectal cancer (DCC) regulates the migration of luteinizing hormone-releasing hormone neurons to the basal forebrain","volume":"21","year":"2001","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B20","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1460-9568.2004.03094.x","article-title":"Netrin 1-mediated chemoattraction regulates the migratory pathway of LHRH neurons","volume":"19","year":"2004","journal-title":"Eur. J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B21","doi-asserted-by":"crossref","first-page":"4440","DOI":"10.1523\/JNEUROSCI.4442-11.2012","article-title":"Netrin\/DCC signaling guides olfactory sensory axons to their correct location in the olfactory bulb","volume":"32","year":"2012","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B22","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1212\/WNL.0000000000000477","article-title":"Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases","volume":"82","year":"2014","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B23","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/nrm2142","article-title":"Netrins: beyond the brain","volume":"8","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/mcne.2001.1075","article-title":"The netrin-1 receptor DCC promotes filopodia formation and cell spreading by activating Cdc42 and Rac1","volume":"19","year":"2002","journal-title":"Mol. Cell Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B25","doi-asserted-by":"crossref","first-page":"4314","DOI":"10.1093\/hmg\/dds264","article-title":"An ancient founder mutation in PROKR2 impairs human reproduction","volume":"21","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B26","doi-asserted-by":"crossref","first-page":"E458","DOI":"10.1210\/jc.2013-2431","article-title":"Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways","volume":"99","year":"2014","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B27","doi-asserted-by":"crossref","first-page":"e1002896.","DOI":"10.1371\/journal.pgen.1002896","article-title":"SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome","volume":"8","year":"2012","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B28","doi-asserted-by":"crossref","first-page":"17953","DOI":"10.1073\/pnas.1417438111","article-title":"Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency","volume":"111","year":"2014","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B29","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/ng.3794","article-title":"Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance","volume":"49","year":"2017","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B30","doi-asserted-by":"crossref","first-page":"11703","DOI":"10.1073\/pnas.0903449106","article-title":"GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism","volume":"106","year":"2009","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B31","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1006\/dbio.1994.1320","article-title":"A subset of peripherin positive olfactory axons delineates the luteinizing hormone releasing hormone neuronal migratory pathway in developing mouse","volume":"166","year":"1994","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B32","doi-asserted-by":"crossref","first-page":"367","DOI":"10.2108\/zsj.12.367","article-title":"Cell migration from the olfactory placode and the ontogeny of the neuroendocrine compartments","volume":"12","year":"1995","journal-title":"Zoolog. Sci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B33","doi-asserted-by":"crossref","first-page":"4825","DOI":"10.1002\/cne.22497","article-title":"Composition of the migratory mass during development of the olfactory nerve","volume":"518","year":"2010","journal-title":"J. Comp. Neurol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B34","doi-asserted-by":"crossref","first-page":"6915","DOI":"10.1523\/JNEUROSCI.6087-10.2011","article-title":"Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells","volume":"31","year":"2011","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B35","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1242\/dev.139444","article-title":"Development of the neurons controlling fertility in humans: new insights from 3D imaging and transparent fetal brains","volume":"143","year":"2016","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B36","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/0896-6273(90)90444-K","article-title":"The unc-5, unc-6, and unc-40 genes guide circumferential migrations of pioneer axons and mesodermal cells on the epidermis in C. elegans","volume":"4","year":"1990","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B37","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0092-8674(00)81336-7","article-title":"Deleted in Colorectal Cancer (DCC) encodes a netrin receptor","volume":"87","year":"1996","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B38","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1212\/WNL.0b013e318207b1e0","article-title":"A novel DCC mutation and genetic heterogeneity in congenital mirror movements","volume":"76","year":"2011","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B39","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1242\/jcs.111278","article-title":"N-terminal horseshoe conformation of DCC is functionally required for axon guidance and might be shared by other neural receptors","volume":"126","year":"2013","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B40","doi-asserted-by":"crossref","first-page":"32561","DOI":"10.1074\/jbc.M302943200","article-title":"Netrin binds discrete subdomains of DCC and UNC5 and mediates interactions between DCC and heparin","volume":"278","year":"2003","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B41","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1126\/science.1255149","article-title":"Structures of netrin-1 bound to two receptors provide insight into its axon guidance mechanism","volume":"344","author":"Neural migration","year":"2014","journal-title":"Science"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B42","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.pbiomolbio.2015.04.001","article-title":"Signaling mechanism of the netrin-1 receptor DCC in axon guidance","volume":"118","year":"2015","journal-title":"Prog. Biophys. Mol. Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B43","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/nrm2406","article-title":"Filopodia: molecular architecture and cellular functions","volume":"9","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B44","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.cell.2011.06.010","article-title":"Life at the leading edge","volume":"145","year":"2011","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B45","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1242\/jcs.094946","article-title":"Differential regulation of myosin X movements by its cargos, DCC and neogenin","volume":"125","year":"2012","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B46","doi-asserted-by":"crossref","first-page":"14018","DOI":"10.1523\/JNEUROSCI.0943-11.2011","article-title":"Draxin inhibits axonal outgrowth through the netrin receptor DCC","volume":"31","year":"2011","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B47","doi-asserted-by":"crossref","first-page":"e84823.","DOI":"10.1371\/journal.pone.0084823","article-title":"Defining the ligand specificity of the deleted in colorectal cancer (DCC) receptor","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B48","doi-asserted-by":"crossref","first-page":"7595","DOI":"10.1073\/pnas.0811343106","article-title":"Netrin-1-alpha3beta1 integrin interactions regulate the migration of interneurons through the cortical marginal zone","volume":"106","year":"2009","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B49","doi-asserted-by":"crossref","first-page":"2951","DOI":"10.1073\/pnas.0811083106","article-title":"DSCAM functions as a netrin receptor in commissural axon pathfinding","volume":"106","year":"2009","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B50","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/386796a0","article-title":"Phenotype of mice lacking functional Deleted in colorectal cancer (Dcc) gene","volume":"386","year":"1997","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B51","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/S0092-8674(00)81795-X","article-title":"Netrin-1 is required for commissural axon guidance in the developing vertebrate nervous system","volume":"87","year":"1996","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B52","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/ng.3804","article-title":"Biallelic mutations in human DCC cause developmental split-brain syndrome","volume":"49","year":"2017","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B53","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B54","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng1122","article-title":"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome","volume":"33","year":"2003","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B55","doi-asserted-by":"crossref","first-page":"6281","DOI":"10.1073\/pnas.0600962103","article-title":"Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism","volume":"103","year":"2006","journal-title":"Proc. Natl Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B56","doi-asserted-by":"crossref","first-page":"4128","DOI":"10.1210\/jc.2002-020518","article-title":"Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism","volume":"87","year":"2002","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B57","doi-asserted-by":"crossref","first-page":"E136","DOI":"10.1210\/jc.2011-2041","article-title":"Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications","volume":"97","year":"2012","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B58","first-page":"172","article-title":"Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism","volume":"8","year":"2011","journal-title":"Nat. Rev. Endocrinol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B59","doi-asserted-by":"crossref","first-page":"6.","DOI":"10.1186\/1471-2261-8-6","article-title":"The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome","volume":"8","year":"2008","journal-title":"BMC Cardiovasc. Disord"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B60","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1126\/science.1217876","article-title":"An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people","volume":"337","year":"2012","journal-title":"Science"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B61","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/tpj.2011.20","article-title":"Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations","volume":"12","year":"2012","journal-title":"Pharmacogenomics J"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B62","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.2337\/db11-0985","article-title":"Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation","volume":"61","year":"2012","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B63","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B64","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","year":"2011","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B65","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","year":"2012","journal-title":"Fly (Austin)"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B66","doi-asserted-by":"crossref","first-page":"E2393","DOI":"10.1002\/humu.22376","article-title":"dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations","volume":"34","year":"2013","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B67","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","year":"2000","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B68","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.15252\/emmm.201607376","article-title":"KLB, encoding beta-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism","volume":"9","year":"2017","journal-title":"EMBO Mol. Med"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B69","doi-asserted-by":"crossref","first-page":"2006","DOI":"10.1093\/hmg\/ddx080","article-title":"Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice","volume":"26","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B70","doi-asserted-by":"crossref","first-page":"e1001025.","DOI":"10.1371\/journal.pcbi.1001025","article-title":"Identifying a high fraction of the human genome to be under selective constraint using GERP\u2009++","volume":"6","year":"2010","journal-title":"PLoS Comput. Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B71","first-page":"80","article-title":"Sexual dimorphism of kisspeptin and neurokinin B immunoreactive neurons in the infundibular nucleus of aged men and women","volume":"2","year":"2011","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B72","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1523\/JNEUROSCI.1964-15.2016","article-title":"Normal Molecular Specification and Neurodegenerative Disease-Like Death of Spinal Neurons Lacking the SNARE-Associated Synaptic Protein Munc18-1","volume":"36","year":"2016","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B73","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/nm.3467","article-title":"Netrin-1 promotes adipose tissue macrophage retention and insulin resistance in obesity","volume":"20","year":"2014","journal-title":"Nat. Med"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B74","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1093\/jmcb\/mju006","article-title":"NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis","volume":"6","year":"2014","journal-title":"J. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20180105052516_ddx408-B75","doi-asserted-by":"crossref","first-page":"4759","DOI":"10.1093\/hmg\/ddr403","article-title":"Dysregulation of Semaphorin7A\/beta1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility","volume":"20","year":"2011","journal-title":"Hum. Mol. Genet"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/2\/359\/23265523\/ddx408.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T23:40:31Z","timestamp":1570405231000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/27\/2\/359\/4676002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,30]]},"references-count":75,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,11,30]]},"published-print":{"date-parts":[[2018,1,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx408","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,1,15]]},"published":{"date-parts":[[2017,11,30]]}}}