https://m2.mtmt.hu/ eng 2026-09-21 14:49 JournalArticle 31279837 VALIDATED true Cited By :16 Export Date: 17 August 2022 CODEN: HUGED Correspondence Address: Patócs, A.; Department of Laboratory Medicine, Nagyvárad tér 4, Hungary; email: patocs.attila@med.semmelweis-univ.hu 0 false 2026-08-13T16:21:39.932+0000 2022-07-28T06:01:17.560+0000 2020-04-15T16:53:45.623+0000 true 10015206 Áncsán Gizella /api/admin/10015206 Admin Gizella Áncsán (SE admin) true 10015206 2024-10-01T12:09:36.172+0000 2022-07-28T06:01:17.808+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin Márta Molnár-Taga (SE 4-es admin) true 10062250 Admin 10003134 /api/admin/10003134 György Wolf (MTMT Központi admin) Wolf György true 10003134 true 2024-04-11T07:19:53.187+0000 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType Survey paper (Journal Article) 102 true 1134514 true 1 /api/category/1 Category Scientific true 1 Butz, Henriett true true /api/journal/1803 REVIEWED HUMAN GENETICS 0340-6717 1432-1203 true false 1803 false 1803 true 0340-6717 1432-1203 Journal FOREIGN 140 1 113 134 113 22 2021 Funding 2008831 /api/funding/2008831 (Open access funding of Semmelweis University) false true Funding 2008832 /api/funding/2008832 Nemzeti Bionika Program(ED_17-1-2017-0009) false true true true 2020 true true true false true false GOLD 2026-08-13 true https://doi.org/10.1007/s00439-020-02148-0 56 0 54 53 1 55 53 49 50 54 54 53 53 55 1 0 56 55 54 53 0 3 3 Folyóiratcikk Journal Article 24 52 Könyvrészlet Chapter in Book 25 1 Könyv Book 23 1 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 1 Egyéb Miscellaneous 29 1 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2020 0 1 1 1 1 2021 0 10 10 10 10 2022 0 15 15 15 15 2023 0 8 8 8 8 2024 0 11 10 11 10 2025 0 7 7 7 7 2026 0 4 4 4 4 Q1 false 10001006,10025130 false false false 2020-07-14T16:54:01.719+0000 II. Sz. Belgyógyászati Klinika (SE / AOK / K); Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Molekuláris Medicina Kutatócsoport (SE / AOK / K / BOK); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Országos Onkológiai Intézet 5 27 5 5 0 true 10003134 Language 10002 /api/language/10002 English Angol English true 2 true PersonAuthorship 91420140 /api/authorship/91420140 Butz, Henriett [Butz, Henriett (orvostudomány), author] National Institute of Oncology; Department of Laboratory Medicine (SU / FM / I); MTA-SE Research Group for Hereditary Tumors (SU / FM / I / DLM) 1 0.2 true false false Author 10020420 /api/author/10020420 Henriett Butz (orvostudomány) Butz Henriett true 10020420 true Butz Henriett true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 91420141 /api/authorship/91420141 Nyírő, Gábor [Nyírő, Gábor (Molekuláris bioló...), author] MTA-SE Molecular Medicine Research Unit (SU / FM / C / DIMO); II. Department of Internal Medicine (SU / FM / C) 2 0.2 false false false Author 10027574 /api/author/10027574 Gábor Nyírő (Molekuláris biológia-genetika) Nyírő Gábor true 10027574 true Nyírő Gábor true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 91420142 /api/authorship/91420142 Kurucz, Petra Anna [Kurucz, Petra (Belgyógyászat), author] Department of Laboratory Medicine (SU / FM / I) 3 0.2 false false false Author 10084386 /api/author/10084386 Petra Kurucz (Belgyógyászat) Kurucz Petra true true Kurucz Petra Anna true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 91420143 /api/authorship/91420143 Likó, István [Likó, István (Bioinformatika-Mo...), author] MTA-SE Research Group for Hereditary Tumors (SU / FM / I / DLM) 4 0.2 false false false Author 10025130 /api/author/10025130 István Likó (Bioinformatika-Molekuláris biológia) Likó István true 10025130 true Likó István true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 91420144 /api/authorship/91420144 Patócs, Attila ✉ [Patócs, Attila Balázs (Orvostudomány), author] National Institute of Oncology; Department of Laboratory Medicine (SU / FM / I); MTA-SE Research Group for Hereditary Tumors (SU / FM / I / DLM) 5 0.2 false true true Author 10001006 /api/author/10001006 Attila Balázs Patócs (Orvostudomány) Patócs Attila Balázs true 10001006 true Patócs Attila true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PublicationIdentifier 16835687 /api/publicationidentifier/16835687 DOI: 10.1007/s00439-020-02148-0 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.1007/s00439-020-02148-0 https://doi.org/10.1007/s00439-020-02148-0 false true PublicationIdentifier 16835689 /api/publicationidentifier/16835689 WoS: 000522010600001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000522010600001 https://www.webofscience.com/wos/woscc/full-record/000522010600001 false true PublicationIdentifier 16863730 /api/publicationidentifier/16863730 Scopus: 85082421136 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85082421136 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85082421136 false true PublicationIdentifier 17017267 /api/publicationidentifier/17017267 PubMed: 32222824 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 32222824 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32222824&dopt=Abstract false true Classification 12215 /api/classification/12215 Clinical medicine true true SjrRating 11229271 /api/sjrrating/11229271 sjr:Q1 (2021) Scopus - Genetics (clinical) HUMAN GENETICS 0340-6717 1432-1203 11 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 Scopus - Genetics (clinical) true 2716 true Q1 DIRECT true true Reference 2620397 /api/reference/2620397 1. Abreu AP, Kaiser UB, Latronico AC (2010) The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. Neuroendocrinology 91:283–290. https://doi.org/, DOI: 10.1159/000308880DOI:10.1159/000308880 1 10.1159/000308880DOI:10.1159/000308880 false true Reference 2620398 /api/reference/2620398 2. Alkelai A, Olender T, Dode C et al (2017) Next-generation sequencing of patients with congenital anosmia. Eur J Hum Genet 25:1377–1387. https://doi.org/, DOI: 10.1038/s41431-017-0014-1DOI:10.1038/s41431-017-0014-1 2 10.1038/s41431-017-0014-1DOI:10.1038/s41431-017-0014-1 false true Reference 2620399 /api/reference/2620399 3. Alsters SI, Goldstone AP, Buxton JL et al (2015) Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism. PLoS One 10:e0131417. https://doi.org/, DOI: 10.1371/journal.pone.0131417DOI:10.1371/journal.pone.0131417 3 10.1371/journal.pone.0131417DOI:10.1371/journal.pone.0131417 false true Reference 2620400 /api/reference/2620400 4. Amato LGL, Montenegro LR, Lerario AM et al (2019) New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. Eur J Endocrinol 181:103–119. https://doi.org/, DOI: 10.1530/EJE-18-0764DOI:10.1530/EJE-18-0764 4 10.1530/EJE-18-0764DOI:10.1530/EJE-18-0764 false true Reference 2620401 /api/reference/2620401 5. Aoyama K, Mizuno H, Tanaka T et al (2017) Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. J Pediatr Endocrinol Metab 30:1111–1118. https://doi.org/, DOI: 10.1515/jpem-2017-0035DOI:10.1515/jpem-2017-0035 5 10.1515/jpem-2017-0035DOI:10.1515/jpem-2017-0035 false true Reference 2620402 /api/reference/2620402 6. Beneduzzi D, Trarbach EB, Min L et al (2014) Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertil Steril 102:838–846.e2. https://doi.org/, DOI: 10.1016/j.fertnstert.2014.05.044DOI:10.1016/j.fertnstert.2014.05.044 6 10.1016/j.fertnstert.2014.05.044DOI:10.1016/j.fertnstert.2014.05.044 false true Reference 2620403 /api/reference/2620403 7. Bertalan R, Bencsik Z, Mezei P et al (2019) Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. Mol Biol Rep 46:4599–4604. https://doi.org/, DOI: 10.1007/s11033-019-04688-9DOI:10.1007/s11033-019-04688-9 7 10.1007/s11033-019-04688-9DOI:10.1007/s11033-019-04688-9 false true Reference 2620404 /api/reference/2620404 8. Biesecker LG, Green RC (2014) Diagnostic clinical genome and exome sequencing. N Engl J Med 370:2418–2425. https://doi.org/, DOI: 10.1056/NEJMra1312543DOI:10.1056/NEJMra1312543 8 10.1056/NEJMra1312543DOI:10.1056/NEJMra1312543 false true Reference 2620405 /api/reference/2620405 9. Boehm U, Bouloux P-M, Dattani MT et al (2015) European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11:547–564. https://doi.org/, DOI: 10.1038/nrendo.2015.112DOI:10.1038/nrendo.2015.112 9 10.1038/nrendo.2015.112DOI:10.1038/nrendo.2015.112 false true Reference 2620406 /api/reference/2620406 10. Butz H, Patócs A (2019) Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next-generation sequencing, etc.). In: Igaz P, Patócs A (eds) Genetics of Endocrine diseases and syndromes. Springer International Publishing, Cham, pp 33–52, DOI: 10.1007/978-3-030-25905-1_4 10 10.1007/978-3-030-25905-1_4 false true Reference 2620407 /api/reference/2620407 11. Cariboni A, André V, Chauvet S et al (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. J Clin Invest 125:2413–2428. https://doi.org/, DOI: 10.1172/JCI78448DOI:10.1172/JCI78448 11 10.1172/JCI78448DOI:10.1172/JCI78448 false true Reference 2620408 /api/reference/2620408 12. Caronia LM, Martin C, Welt CK et al (2011) A genetic basis for functional hypothalamic amenorrhea. N Engl J Med 364:215–225. https://doi.org/, DOI: 10.1056/NEJMoa0911064DOI:10.1056/NEJMoa0911064 12 10.1056/NEJMoa0911064DOI:10.1056/NEJMoa0911064 false true Reference 2620409 /api/reference/2620409 13. Cassatella D, Howard SR, Acierno JS et al (2018) Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. Eur J Endocrinol 178:377–388. https://doi.org/, DOI: 10.1530/EJE-17-0568DOI:10.1530/EJE-17-0568 13 10.1530/EJE-17-0568DOI:10.1530/EJE-17-0568 false true Reference 2620410 /api/reference/2620410 14. Chew S, Balasubramanian R, Chan WM et al (2013) A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain 136:522–535. https://doi.org/, DOI: 10.1093/brain/aws345DOI:10.1093/brain/aws345 14 10.1093/brain/aws345DOI:10.1093/brain/aws345 false true Reference 2620411 /api/reference/2620411 15. Cingolani P, Platts A, Wang LL et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118 15 false true Reference 2620412 /api/reference/2620412 16. iso-2 16 false true Reference 2620413 /api/reference/2620413 17. iso-3. Fly (Austin) 6:80–92. https://doi.org/, DOI: 10.4161/fly.19695DOI:10.4161/fly.19695 17 10.4161/fly.19695DOI:10.4161/fly.19695 false true Reference 2620414 /api/reference/2620414 18. Cioppi F, Riera-Escamilla A, Manilall A et al (2019) Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. Andrology 7:88–101. https://doi.org/, DOI: 10.1111/andr.12563DOI:10.1111/andr.12563 18 10.1111/andr.12563DOI:10.1111/andr.12563 false true Reference 2620415 /api/reference/2620415 19. Cole LW, Sidis Y, Zhang C et al (2008) Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab 93:3551–3559. https://doi.org/, DOI: 10.1210/jc.2007-2654DOI:10.1210/jc.2007-2654 19 10.1210/jc.2007-2654DOI:10.1210/jc.2007-2654 false true Reference 2620416 /api/reference/2620416 20. Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC (2001) Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J Clin Endocrinol Metab 86:2680–2686. https://doi.org/, DOI: 10.1210/jcem.86.6.7551DOI:10.1210/jcem.86.6.7551 20 10.1210/jcem.86.6.7551DOI:10.1210/jcem.86.6.7551 false true Reference 2620417 /api/reference/2620417 21. Costa-Barbosa FA, Balasubramanian R, Keefe KW et al (2013) Prioritizing genetic testing in patients with kallmann syndrome using clinical phenotypes. J ClinEndocrinol Metabol 98:E943–E953. https://doi.org/, DOI: 10.1210/jc.2012-4116DOI:10.1210/jc.2012-4116 21 10.1210/jc.2012-4116DOI:10.1210/jc.2012-4116 false true Reference 2620418 /api/reference/2620418 22. Courage C, Jackson CB, Owczarek-Lipska M et al (2019) Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Am J Med Genet 179:2447–2453. https://doi.org/, DOI: 10.1002/ajmg.a.61354DOI:10.1002/ajmg.a.61354 22 10.1002/ajmg.a.61354DOI:10.1002/ajmg.a.61354 false true Reference 2620419 /api/reference/2620419 23. Deans ZC, Costa JL, Cree I et al (2017) Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours 23 false true Reference 2620420 /api/reference/2620420 24. an expert opinion on behalf of IQN Path ASBL. Virchows Arch 470:5–20. https://doi.org/, DOI: 10.1007/s00428-016-2025-7DOI:10.1007/s00428-016-2025-7 24 10.1007/s00428-016-2025-7DOI:10.1007/s00428-016-2025-7 false true Reference 2620421 /api/reference/2620421 25. DePristo MA, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498. https://doi.org/, DOI: 10.1038/ng.806DOI:10.1038/ng.806 25 10.1038/ng.806DOI:10.1038/ng.806 false true Reference 2620422 /api/reference/2620422 26. Di Resta C, Galbiati S, Carrera P, Ferrari M (2018) Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC 29:4–14 26 false true Reference 2620423 /api/reference/2620423 27. Digilio MC, Magliozzi M, Di Pede A et al (2019) Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations. Am J Med Genet A 179:1570–1574. https://doi.org/, DOI: 10.1002/ajmg.a.61195DOI:10.1002/ajmg.a.61195 27 10.1002/ajmg.a.61195DOI:10.1002/ajmg.a.61195 false true Reference 2620424 /api/reference/2620424 28. Dodé C, Teixeira L, Levilliers J et al (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2:e175. https://doi.org/, DOI: 10.1371/journal.pgen.0020175DOI:10.1371/journal.pgen.0020175 28 10.1371/journal.pgen.0020175DOI:10.1371/journal.pgen.0020175 false true Reference 2620425 /api/reference/2620425 29. Fang Q, George AS, Brinkmeier ML et al (2016) Genetics of combined pituitary hormone deficiency: roadmap into the genome era. Endocr Rev 37:636–675. https://doi.org/, DOI: 10.1210/er.2016-1101DOI:10.1210/er.2016-1101 29 10.1210/er.2016-1101DOI:10.1210/er.2016-1101 false true Reference 2620426 /api/reference/2620426 30. Farooqi IS, O’Rahilly S (2008) Mutations in ligands and receptors of the leptin–melanocortin pathway that lead to obesity. Nat Rev Endocrinol 4:569–577. https://doi.org/, DOI: 10.1038/ncpendmet0966DOI:10.1038/ncpendmet0966 30 10.1038/ncpendmet0966DOI:10.1038/ncpendmet0966 false true Reference 2620427 /api/reference/2620427 31. Gianetti E, Tusset C, Noel SD et al (2010) TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin b in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metabol 95:2857–2867. https://doi.org/, DOI: 10.1210/jc.2009-2320DOI:10.1210/jc.2009-2320 31 10.1210/jc.2009-2320DOI:10.1210/jc.2009-2320 false true Reference 2620428 /api/reference/2620428 32. Gianetti E, Hall JE, Au MG et al (2012) When genetic load does not correlate with phenotypic spectrum: lessons from the gnrh receptor (GNRHR). J Clin Endocrinol Metabol 97:E1798–E1807. https://doi.org/, DOI: 10.1210/jc.2012-1264DOI:10.1210/jc.2012-1264 32 10.1210/jc.2012-1264DOI:10.1210/jc.2012-1264 false true Reference 2620429 /api/reference/2620429 33. Graziola F, Garone G, Stregapede F et al (2019) Diagnostic yield of a targeted next-generation sequencing gene panel for pediatric-onset movement disorders: a 3-year cohort study. Front Genet 10:1026. https://doi.org/, DOI: 10.3389/fgene.2019.01026DOI:10.3389/fgene.2019.01026 33 10.3389/fgene.2019.01026DOI:10.3389/fgene.2019.01026 false true Reference 2620430 /api/reference/2620430 34. Gürbüz F, Kotan LD, Mengen E et al (2012) Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol 4:121–126. https://doi.org/, DOI: 10.4274/jcrpe.725DOI:10.4274/jcrpe.725 34 10.4274/jcrpe.725DOI:10.4274/jcrpe.725 false true Reference 2620431 /api/reference/2620431 35. Halász Z, Tőke J, Patócs A et al (2006) High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocr 30:255–260. https://doi.org/, DOI: 10.1007/s12020-006-0002-7DOI:10.1007/s12020-006-0002-7 35 10.1007/s12020-006-0002-7DOI:10.1007/s12020-006-0002-7 false true Reference 2620432 /api/reference/2620432 36. Hannema SE, Wit JM, Houdijk ME et al (2016) Novel leptin receptor mutations identified in two girls with severe obesity are associated with increased bone mineral density. Horm Res Paediatr 85:412–420. https://doi.org/, DOI: 10.1159/000444055DOI:10.1159/000444055 36 10.1159/000444055DOI:10.1159/000444055 false true Reference 2620433 /api/reference/2620433 37. Hietamäki J, Hero M, Holopainen E et al (2017) GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency. PLoS ONE 12:e0188750. https://doi.org/, DOI: 10.1371/journal.pone.0188750DOI:10.1371/journal.pone.0188750 37 10.1371/journal.pone.0188750DOI:10.1371/journal.pone.0188750 false true Reference 2620434 /api/reference/2620434 38. Hughes LA, McKay-Bounford K, Webb EA et al (2019) Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). Endocr Connect 8:100–110. https://doi.org/, DOI: 10.1530/EC-18-0376DOI:10.1530/EC-18-0376 38 10.1530/EC-18-0376DOI:10.1530/EC-18-0376 false true Reference 2620435 /api/reference/2620435 39. Izumi Y, Suzuki E, Kanzaki S et al (2014) Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertil Steril 102:1130–1136.e3. https://doi.org/, DOI: 10.1016/j.fertnstert.2014.06.017DOI:10.1016/j.fertnstert.2014.06.017 39 10.1016/j.fertnstert.2014.06.017DOI:10.1016/j.fertnstert.2014.06.017 false true Reference 2620436 /api/reference/2620436 40. Jackson RS, Creemers JWM, Ohagi S et al (1997) Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 16:303–306. https://doi.org/, DOI: 10.1038/ng0797-303DOI:10.1038/ng0797-303 40 10.1038/ng0797-303DOI:10.1038/ng0797-303 false true Reference 2620437 /api/reference/2620437 41. Känsäkoski J, Fagerholm R, Laitinen EM et al (2014) Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism. Pediatr Res 75:641–644. https://doi.org/, DOI: 10.1038/pr.2014.23DOI:10.1038/pr.2014.23 41 10.1038/pr.2014.23DOI:10.1038/pr.2014.23 false true Reference 2620438 /api/reference/2620438 42. Kim JH, Seo GH, Kim G-H et al (2019) Targeted gene panel sequencing for molecular diagnosis of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Exp Clin Endocrinol Diabetes 127:538–544. https://doi.org/, DOI: 10.1055/a-0681-6608DOI:10.1055/a-0681-6608 42 10.1055/a-0681-6608DOI:10.1055/a-0681-6608 false true Reference 2620439 /api/reference/2620439 43. Kong SW, Lee IH, Liu X et al (2018) Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med 20:1617–1626. https://doi.org/, DOI: 10.1038/gim.2018.51DOI:10.1038/gim.2018.51 43 10.1038/gim.2018.51DOI:10.1038/gim.2018.51 false true Reference 2620440 /api/reference/2620440 44. Kotan LD, Cooper C, Darcan Ş et al (2016) Idiopathic hypogonadotropic hypogonadism caused by inactivating mutations in SRA1. J Clin Res Pediatr Endocrinol 8:125–134. https://doi.org/, DOI: 10.4274/jcrpe.3248DOI:10.4274/jcrpe.3248 44 10.4274/jcrpe.3248DOI:10.4274/jcrpe.3248 false true Reference 2620441 /api/reference/2620441 45. Lee H, Deignan JL, Dorrani N et al (2014) Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312:1880–1887. https://doi.org/, DOI: 10.1001/jama.2014.14604DOI:10.1001/jama.2014.14604 45 10.1001/jama.2014.14604DOI:10.1001/jama.2014.14604 false true Reference 2620442 /api/reference/2620442 46. Maione L, Dwyer AA, Francou B et al (2018) Genetics in endocrinology: genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. Eur J Endocrinol 198:R55–R80. https://doi.org/, DOI: 10.1530/EJE-17-0749DOI:10.1530/EJE-17-0749 46 10.1530/EJE-17-0749DOI:10.1530/EJE-17-0749 false true Reference 2620443 /api/reference/2620443 47. Malone SA, Papadakis GE, Messina A et al (2019) Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism. Elife 8:e47198. https://doi.org/, DOI: 10.7554/eLife.47198DOI:10.7554/eLife.47198 47 10.7554/eLife.47198DOI:10.7554/eLife.47198 false true Reference 2620444 /api/reference/2620444 48. Mancini A, Howard SR, Cabrera CP et al (2019) EAP1 regulation of GnRH promoter activity is important for human pubertal timing. Hum Mol Genet 28:1357–1368. https://doi.org/, DOI: 10.1093/hmg/ddy451DOI:10.1093/hmg/ddy451 48 10.1093/hmg/ddy451DOI:10.1093/hmg/ddy451 false true Reference 2620445 /api/reference/2620445 49. Matthijs G, Souche E, Alders M et al (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5. https://doi.org/, DOI: 10.1038/ejhg.2015.226DOI:10.1038/ejhg.2015.226 49 10.1038/ejhg.2015.226DOI:10.1038/ejhg.2015.226 false true Reference 2620446 /api/reference/2620446 50. Miraoui H, Dwyer AA, Sykiotis GP et al (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet 92:725–743. https://doi.org/, DOI: 10.1016/j.ajhg.2013.04.008DOI:10.1016/j.ajhg.2013.04.008 50 10.1016/j.ajhg.2013.04.008DOI:10.1016/j.ajhg.2013.04.008 false true Reference 2620447 /api/reference/2620447 51. Miura K, Acierno JS, Seminara SB (2004) Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet 49:265–268. https://doi.org/, DOI: 10.1007/s10038-004-0137-4DOI:10.1007/s10038-004-0137-4 51 10.1007/s10038-004-0137-4DOI:10.1007/s10038-004-0137-4 false true Reference 2620448 /api/reference/2620448 52. Monnier C, Dodé C, Fabre L et al (2009) PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum Mol Genet 18:75–81. https://doi.org/, DOI: 10.1093/hmg/ddn318DOI:10.1093/hmg/ddn318 52 10.1093/hmg/ddn318DOI:10.1093/hmg/ddn318 false true Reference 2620449 /api/reference/2620449 53. Muller E, Goardon N, Brault B et al (2016) OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice. Oncotarget 7:79485–79493. https://doi.org/, DOI: 10.18632/oncotarget.13103DOI:10.18632/oncotarget.13103 53 10.18632/oncotarget.13103DOI:10.18632/oncotarget.13103 false true Reference 2620450 /api/reference/2620450 54. Oliver GR, Hart SN, Klee EW (2015) Bioinformatics for clinical next generation sequencing. Clin Chem 61:124–135. https://doi.org/, DOI: 10.1373/clinchem.2014.224360DOI:10.1373/clinchem.2014.224360 54 10.1373/clinchem.2014.224360DOI:10.1373/clinchem.2014.224360 false true Reference 2620451 /api/reference/2620451 55. Patel RM, Liu D, Gonzaga-Jauregui C et al (2017) An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud 3:a000984. https://doi.org/, DOI: 10.1101/mcs.a000984DOI:10.1101/mcs.a000984 55 10.1101/mcs.a000984DOI:10.1101/mcs.a000984 false true Reference 2620452 /api/reference/2620452 56. Pitteloud N, Quinton R, Pearce S et al (2007) Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 117:457–463. https://doi.org/, DOI: 10.1172/JCI29884DOI:10.1172/JCI29884 56 10.1172/JCI29884DOI:10.1172/JCI29884 false true Reference 2620453 /api/reference/2620453 57. Quaynor SD, Bosley ME, Duckworth CG et al (2016) Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 437:86–96. https://doi.org/, DOI: 10.1016/j.mce.2016.08.007DOI:10.1016/j.mce.2016.08.007 57 10.1016/j.mce.2016.08.007DOI:10.1016/j.mce.2016.08.007 false true Reference 2620454 /api/reference/2620454 58. Radhakrishna U, Bornholdt D, Scott HS et al (1999) The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B 58 false true Reference 2620455 /api/reference/2620455 59. No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 65:645–655. https://doi.org/, DOI: 10.1086/302557DOI:10.1086/302557 59 10.1086/302557DOI:10.1086/302557 false true Reference 2620456 /api/reference/2620456 60. Raivio T, Avbelj M, McCabe MJ et al (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metabol 97:E694–E699. https://doi.org/, DOI: 10.1210/jc.2011-2938DOI:10.1210/jc.2011-2938 60 10.1210/jc.2011-2938DOI:10.1210/jc.2011-2938 false true Reference 2620457 /api/reference/2620457 61. Rehm HL, Bale SJ, Bayrak-Toydemir P et al (2013) ACMG clinical laboratory standards for next-generation sequencing. Genet Med 15:733–747. https://doi.org/, DOI: 10.1038/gim.2013.92DOI:10.1038/gim.2013.92 61 10.1038/gim.2013.92DOI:10.1038/gim.2013.92 false true Reference 2620458 /api/reference/2620458 62. Reynaud R, Jayakody SA, Monnier C et al (2012) PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab 97:E1068–E1073. https://doi.org/, DOI: 10.1210/jc.2011-3056DOI:10.1210/jc.2011-3056 62 10.1210/jc.2011-3056DOI:10.1210/jc.2011-3056 false true Reference 2620459 /api/reference/2620459 63. Richards S, Aziz N, Bale S et al (2015) 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. Genet Med 17:405–424. https://doi.org/, DOI: 10.1038/gim.2015.30DOI:10.1038/gim.2015.30 63 10.1038/gim.2015.30DOI:10.1038/gim.2015.30 false true Reference 2620460 /api/reference/2620460 64. Rizzo JM, Buck MJ (2012) Key principles and clinical applications of “next-generation” DNA sequencing. Cancer Prev Res 5:887–900. https://doi.org/, DOI: 10.1158/1940-6207.CAPR-11-0432DOI:10.1158/1940-6207.CAPR-11-0432 64 10.1158/1940-6207.CAPR-11-0432DOI:10.1158/1940-6207.CAPR-11-0432 false true Reference 2620461 /api/reference/2620461 65. Salian-Mehta S, Xu M, Knox AJ et al (2014) Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. J Clin Endocrinol Metab 99:1452–1460. https://doi.org/, DOI: 10.1210/jc.2013-3426DOI:10.1210/jc.2013-3426 65 10.1210/jc.2013-3426DOI:10.1210/jc.2013-3426 false true Reference 2620462 /api/reference/2620462 66. Sawyer SL, Hartley T, Dyment DA et al (2016) Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care: Whole-exome sequencing for rare disease diagnosis. Clin Genet 89:275–284. https://doi.org/, DOI: 10.1111/cge.12654DOI:10.1111/cge.12654 66 10.1111/cge.12654DOI:10.1111/cge.12654 false true Reference 2620463 /api/reference/2620463 67. Sayitoğlu M (2016) Clinical interpretation of genomic variations. Turk J Haematol 33:172–179. https://doi.org/, DOI: 10.4274/tjh.2016.0149DOI:10.4274/tjh.2016.0149 67 10.4274/tjh.2016.0149DOI:10.4274/tjh.2016.0149 false true Reference 2620464 /api/reference/2620464 68. Spilker C, Grochowska KM, Kreutz MR (2016) What do we learn from the murine Jacob/Nsmf gene knockout for human disease? Rare Dis 4:e1241361. https://doi.org/, DOI: 10.1080/21675511.2016.1241361DOI:10.1080/21675511.2016.1241361 68 10.1080/21675511.2016.1241361DOI:10.1080/21675511.2016.1241361 false true Reference 2620465 /api/reference/2620465 69. Stamou MI, Georgopoulos NA (2018) Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism 86:124–134. https://doi.org/, DOI: 10.1016/j.metabol.2017.10.012DOI:10.1016/j.metabol.2017.10.012 69 10.1016/j.metabol.2017.10.012DOI:10.1016/j.metabol.2017.10.012 false true Reference 2620466 /api/reference/2620466 70. Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD (1998) A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 18:213–215. https://doi.org/, DOI: 10.1038/ng0398-213DOI:10.1038/ng0398-213 70 10.1038/ng0398-213DOI:10.1038/ng0398-213 false true Reference 2620467 /api/reference/2620467 71. Strom SP (2016) Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med 13:3–11. https://doi.org/, DOI: 10.28092/j.issn.2095-3941.2016.0004DOI:10.28092/j.issn.2095-3941.2016.0004 71 10.28092/j.issn.2095-3941.2016.0004DOI:10.28092/j.issn.2095-3941.2016.0004 false true Reference 2620468 /api/reference/2620468 72. Tommiska J, Toppari J, Vaaralahti K et al (2012) PROKR2 mutations in autosomal recessive Kallmann syndrome. Fertil Steril. 99:815–818. https://doi.org/, DOI: 10.1016/j.fertnstert.2012.11.003DOI:10.1016/j.fertnstert.2012.11.003 72 10.1016/j.fertnstert.2012.11.003DOI:10.1016/j.fertnstert.2012.11.003 false true Reference 2620469 /api/reference/2620469 73. Topaloglu AK, Lu ZL, Farooqi IS et al (2006) Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. Neuroendocrinology 84:301–308. https://doi.org/, DOI: 10.1159/000098147DOI:10.1159/000098147 73 10.1159/000098147DOI:10.1159/000098147 false true Reference 2620470 /api/reference/2620470 74. Topaloglu AK, Kotan LD (2016) Genetics of hypogonadotropic hypogonadism. Endocr Dev 29:36–49. https://doi.org/, DOI: 10.1159/000438841DOI:10.1159/000438841 74 10.1159/000438841DOI:10.1159/000438841 false true Reference 2620471 /api/reference/2620471 75. Topaloğlu AK (2018) Update on the genetics of idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol 30:113–122. https://doi.org/, DOI: 10.4274/jcrpe.2017.S010DOI:10.4274/jcrpe.2017.S010 75 10.4274/jcrpe.2017.S010DOI:10.4274/jcrpe.2017.S010 false true Reference 2620472 /api/reference/2620472 76. Trubetskoy V, Rodriguez A, Dave U et al (2015) Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes. Bioinformatics 31:187–193. https://doi.org/, DOI: 10.1093/bioinformatics/btu591DOI:10.1093/bioinformatics/btu591 76 10.1093/bioinformatics/btu591DOI:10.1093/bioinformatics/btu591 false true Reference 2620473 /api/reference/2620473 77. Tusset C, Noel SD, Trarbach EB et al (2012) Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metab 56:646–652. https://doi.org/, DOI: 10.1590/S0004-27302012000900008DOI:10.1590/S0004-27302012000900008 77 10.1590/S0004-27302012000900008DOI:10.1590/S0004-27302012000900008 false true Reference 2620474 /api/reference/2620474 78. Wang Y, Gong C, Qin M et al (2017) Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism. Clin Endocrinol 87:757–766. https://doi.org/, DOI: 10.1111/cen.13451DOI:10.1111/cen.13451 78 10.1111/cen.13451DOI:10.1111/cen.13451 false true Reference 2620475 /api/reference/2620475 79. Wang L, Zhang J, Chen N et al (2018) Application of whole exome and targeted panel sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and comparison study. Genes 9:e360. https://doi.org/, DOI: 10.3390/genes9070360DOI:10.3390/genes9070360 79 10.3390/genes9070360DOI:10.3390/genes9070360 false true Reference 2620476 /api/reference/2620476 80. Xu N, Kim H-G, Bhagavath B et al (2011) Nasal Embryonic LHRH Factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertil Steril 95(1613–20):e1–7. https://doi.org/, DOI: 10.1016/j.fertnstert.2011.01.010DOI:10.1016/j.fertnstert.2011.01.010 80 10.1016/j.fertnstert.2011.01.010DOI:10.1016/j.fertnstert.2011.01.010 false true Reference 2620477 /api/reference/2620477 81. Young J, Xu C, Papadakis GE et al (2019) Clinical management of congenital hypogonadotropic hypogonadism. Endocrine Rev 40:669–710. https://doi.org/, DOI: 10.1210/er.2018-00116DOI:10.1210/er.2018-00116 81 10.1210/er.2018-00116DOI:10.1210/er.2018-00116 false true Reference 2620478 /api/reference/2620478 82. Zhou C, Niu Y, Xu H et al (2018) Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertil Steril 110:486–495.e5. https://doi.org/, DOI: 10.1016/j.fertnstert.2018.04.010DOI:10.1016/j.fertnstert.2018.04.010 82 10.1016/j.fertnstert.2018.04.010DOI:10.1016/j.fertnstert.2018.04.010 false true Reference 2620479 /api/reference/2620479 83. Zhu J, Choa RE-Y, Guo MH et al (2015) A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metabol 100:E646–E654. https://doi.org/, DOI: 10.1210/jc.2015-1080DOI:10.1210/jc.2015-1080 83 10.1210/jc.2015-1080DOI:10.1210/jc.2015-1080 false true /api/publication/31279837 Butz Henriett et al. Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. (2021) HUMAN GENETICS 0340-6717 1432-1203 140 1 113-134<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10020420"><a href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz Henriett (<span class="authorship-author-name">Butz Henriett</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">National Institute of Oncology; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Department of Laboratory Medicine; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Department of Laboratory Medicine">DLM</span>/MTA-SE Research Group for Hereditary Tumors</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10027574"><a href="/gui2/?type=authors&mode=browse&sel=10027574" target="_blank">Nyírő Gábor (<span class="authorship-author-name">Nyírő Gábor</span> <span class="authorAux-mtmt"> Molekuláris biológia-genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Department of Internal Medicine and Oncology">DIMO</span>/MTA-SE Molecular Medicine Research Unit; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/II. Department of Internal Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10084386"><a href="/gui2/?type=authors&mode=browse&sel=10084386" target="_blank">Kurucz Petra Anna (<span class="authorship-author-name">Kurucz Petra</span> <span class="authorAux-mtmt"> Belgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Department of Laboratory Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025130"><a href="/gui2/?type=authors&mode=browse&sel=10025130" target="_blank">Likó István (<span class="authorship-author-name">Likó István</span> <span class="authorAux-mtmt"> Bioinformatika-Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Department of Laboratory Medicine">DLM</span>/MTA-SE Research Group for Hereditary Tumors</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001006"><a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs Attila ✉ (<span class="authorship-author-name">Patócs Attila Balázs</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil">National Institute of Oncology; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Department of Laboratory Medicine; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Department of Laboratory Medicine">DLM</span>/MTA-SE Research Group for Hereditary Tumors</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31279837" target="_blank">Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice</a></div> <div> <span class="journal-title">HUMAN GENETICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0340-6717">0340-6717</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1432-1203">1432-1203</a>)</span>: <span class="journal-volume">140</span> <span class="journal-issue">1</span> <span class="page"> pp 113-134 </span> <span class="year">(2021)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1007/s00439-020-02148-0" target="_blank" href="https://doi.org/10.1007/s00439-020-02148-0"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000522010600001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000522010600001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85082421136" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85082421136"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="32222824" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32222824&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Genetics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 56</span> | Independent citation: 55 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 49 | Number of citations in Scopus:&nbsp;50 | WoS/Scopus assigned:&nbsp;54 | Number of citations with DOI:&nbsp;53 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31279837&sort=publishedYear,desc&sort=title"> Number of cited publications: 3 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 31279837</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Survey paper ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (Open access funding of Semmelweis University), Nemzeti Bionika Program(ED_17-1-2017-0009) </div> <div class="lastModified">Last Modified: 2022.07.28. 08:01 Márta Molnár-Taga (SE 4-es admin) </div> <div class="lockedBy">Centrally managed 2024.04.11. 09:19 György Wolf (MTMT Központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</u>: Cited By :16 Export Date: 17 August 2022 CODEN: HUGED Correspondence Address: Patócs, A.; Department of Laboratory Medicine, Nagyvárad tér 4, Hungary; email: patocs.attila@med.semmelweis-univ.hu</pre> </div></div>