Human Genetics (Berlin)

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  • 2024 | Journal Article
    ​ ​Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes​
    Schmidt, J.; Kaulfuß, S.; Ott, H.; Gaubert, M.; Reintjes, N.; Bremmer, F. & Dreha-Kulaczewski, S. et al.​ (2024) 
    Human Genetics,.​ DOI: https://doi.org/10.1007/s00439-023-02634-1 
    ​Details  DOI  PMID  PMC 
  • 2023 | Journal Article | 
    ​ ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly​
    Schnabel, F.; Schuler, E.; Al-Maawali, A.; Chaurasia, A.; Syrbe, S.; Al-Kindi, A. & Bhavani, G. S. et al.​ (2023) 
    Human Genetics, 142(4) pp. 543​-552​.​ DOI: https://doi.org/10.1007/s00439-023-02528-2 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene​
    Pater, J. A.; Penney, C.; O’Rielly, D. D.; Griffin, A.; Kamal, L.; Brownstein, Z. & Vona, B. et al.​ (2022) 
    Human Genetics,.​ DOI: https://doi.org/10.1007/s00439-022-02444-x 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Biallelic variants in YRDC cause a developmental disorder with progeroid features​
    Schmidt, J.; Goergens, J.; Pochechueva, T.; Kotter, A.; Schwenzer, N.; Sitte, M. & Werner, G. et al.​ (2021) 
    Human Genetics, 140(12) pp. 1679​-1693​.​ DOI: https://doi.org/10.1007/s00439-021-02347-3 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | 
    ​ ​Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus​
    Melo, U. S.; Piard, J.; Fischer-Zirnsak, B.; Klever, M.-K.; Schöpflin, R.; Mensah, M. A. & Holtgrewe, M. et al.​ (2021) 
    Human Genetics, 140(10) pp. 1459​-1469​.​ DOI: https://doi.org/10.1007/s00439-021-02344-6 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​
    Ufartes, R.; Berger, H.; Till, K.; Salinas, G. ; Sturm, M.; Altmüller, J. & Nürnberg, P. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections​
    Reiss, J.​ (2019) 
    Human Genetics, 138(4) pp. 355​-361​.​ DOI: https://doi.org/10.1007/s00439-019-01992-z 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management​
    Tranebjærg, L.; Strenzke, N. ; Lindholm, S.; Rendtorff, N. D.; Poulsen, H.; Khandelia, H. & Kopec, W. et al.​ (2018) 
    Human Genetics, 137(2) pp. 111​-127​.​ DOI: https://doi.org/10.1007/s00439-017-1862-z 
    ​Details  DOI 
  • 2018 | Journal Article | Erratum
    ​ ​Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management​
    Tranebjærg, L.; Strenzke, N. ; Lindholm, S.; Rendtorff, N. D.; Poulsen, H.; Khandelia, H. & Kopec, W. et al.​ (2018) 
    Human Genetics (Berlin), 137(3) pp. 279​-280​.​ DOI: https://doi.org/10.1007/s00439-018-1870-7 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes​
    Parenti, I.; Teresa-Rodrigo, M. E.; Pozojevic, J.; Ruiz Gil, S.; Bader, I.; Braunholz, D. & Bramswig, N. C. et al.​ (2017) 
    Human Genetics, 136(3) pp. 307​-320​.​ DOI: https://doi.org/10.1007/s00439-017-1758-y 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​
    Bramswig, N. C.; Lüdecke, H.-J.; Hamdan, F. F.; Altmüller, J.; Beleggia, F.; Elcioglu, N. H. & Freyer, C. et al.​ (2017) 
    Human Genetics, 136(7) pp. 821​-834​.​ DOI: https://doi.org/10.1007/s00439-017-1795-6 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients​
    Jakubiczka-Smorag, J. ; Santamaria-Araujo, J. A.; Metz, I.; Kumar, A.; Hakroush, S.; Brueck, W. & Schwarz, G. et al.​ (2016) 
    Human Genetics, 135(7) pp. 813​-826​.​ DOI: https://doi.org/10.1007/s00439-016-1676-4 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | 
    ​ ​Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls (vol 132, pg 579, 2013)​
    Brenner, D. R.; Brennan, P. C.; Boffetta, P.; Amos, C. I.; Spitz, M. R.; Chen, C. & Goodman, G. et al.​ (2016) 
    Human Genetics, 135(8).​ DOI: https://doi.org/10.1007/s00439-016-1692-4 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​
    Bramswig, N. C.; Luedecke, H.-J.; Alanay, Y.; Albrecht, B.; Barthelmie, A.; Boduroglu, K. & Braunholz, D. et al.​ (2015) 
    Human Genetics, 134(6) pp. 553​-568​.​ DOI: https://doi.org/10.1007/s00439-015-1535-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article
    ​ ​CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance​
    Schulz, Y.; Wehner, P.; Opitz, L.; Salinas-Riester, G.; Bongers, E. M. H. F.; van Ravenswaaij-Arts, C. M. A. & Wincent, J. et al.​ (2014) 
    Human Genetics, 133(8) pp. 997​-1009​.​ DOI: https://doi.org/10.1007/s00439-014-1444-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Erratum | 
    ​ ​Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​
    Pohl, E.; Aykut, A.; Beleggia, F.; Karaca, E.; Durmaz, B.; Keupp, K. & Arslan, E. et al.​ (2013) 
    Human Genetics, 132(11) pp. 1321​-1321​.​ DOI: https://doi.org/10.1007/s00439-013-1341-0 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​
    Pohl, E.; Aykut, A.; Beleggia, F.; Karaca, E.; Durmaz, B.; Keupp, K. & Arslan, E. et al.​ (2013) 
    Human Genetics, 132(11) pp. 1311​-1320​.​ DOI: https://doi.org/10.1007/s00439-013-1337-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​
    Czeschik, J. C.; Voigt, C.; Alanay, Y.; Albrecht, B.; Avci, S.; FitzPatrick, D. & Goudie, D. R. et al.​ (2013) 
    Human Genetics, 132(8) pp. 885​-898​.​ DOI: https://doi.org/10.1007/s00439-013-1295-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article
    ​ ​Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls​
    Brenner, D. R.; Brennan, P. C.; Boffetta, P.; Amos, C. I.; Spitz, M. R.; Chen, C. & Goodman, G. et al.​ (2013) 
    Human Genetics, 132(5) pp. 579​-589​.​ DOI: https://doi.org/10.1007/s00439-013-1270-y 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​Further characterization of ATP6V0A2-related autosomal recessive cutis laxa​
    Fischer, B.; Dimopoulou, A.; Egerer, J.; Gardeitchik, T.; Kidd, A.; Jost, D. & Kayserili, H. et al.​ (2012) 
    Human Genetics (Berlin), 131(11) pp. 1761​-1773​.​ DOI: https://doi.org/10.1007/s00439-012-1197-8 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article | Research Paper
    ​ ​A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​
    Borck, G.; Wunram, H.; Steiert, A.; Volk, A. E.; Koerber, F.; Roters, S. & Herkenrath, P. et al.​ (2011) 
    Human Genetics, 129(1) pp. 45​-50​.​ DOI: https://doi.org/10.1007/s00439-010-0896-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A mutation screen in patients with Kabuki syndrome​
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al.​ (2011) 
    Human Genetics, 130(6) pp. 715​-724​.​ DOI: https://doi.org/10.1007/s00439-011-1004-y 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease​
    Metzger, S.; Bauer, P.; Tomiuk, J.; Laccone, F. A.; DiDonato, S.; Gellera, C. & Mariotti, C. et al.​ (2006) 
    Human Genetics, 120(2) pp. 285​-292​.​ DOI: https://doi.org/10.1007/s00439-006-0221-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article
    ​ ​Genetic prion disease: the EUROCJD experience​
    Kovács, G. G.; Puopolo, M.; Ladogana, A.; Pocchiari, M.; Budka, H.; Duijn, C. van & Collins, S. J. et al.​ (2005) 
    Human Genetics (Berlin), 118(2) pp. 166​-174​.​ DOI: https://doi.org/10.1007/s00439-005-0020-1 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article
    ​ ​Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase​
    Leimkuhler, S.; Charcosset, M.; Latour, P.; Dorche, C.; Kleppe, S.; Scaglia, F. & Szymczak, I. et al.​ (2005) 
    Human Genetics, 117(6) pp. 565​-570​.​ DOI: https://doi.org/10.1007/s00439-005-1341-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification​
    Chefetz, I.; Heller, R.; Galli-Tsinopoulou, A.; Richard, G.; Wollnik, B. ; Indelman, M. & Koerber, F. et al.​ (2005) 
    Human Genetics, 118(2) pp. 261​-266​.​ DOI: https://doi.org/10.1007/s00439-005-0026-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​Genome-wide targeted search for human specific and polymorphic L1 integrations​
    Buzdin, A.; Ustyugova, S.; Gogvadze, E.; Lebedev, Y.; Hunsmann, G. & Sverdlov, E.​ (2003) 
    Human Genetics, 112(5-6) pp. 527​-533​.​ DOI: https://doi.org/10.1007/s00439-002-0904-2 
    ​Details  DOI 
  • 2001 | Journal Article
    ​ ​Refinement of the chromosome 5p locus for craniometaphyseal dysplasia​
    Chandler, D.; Tinschert, S.; Lohan, K.; Harrop, K.; Goldblatt, J.; Nagy, M. & Hummel, S. L. et al.​ (2001) 
    Human Genetics, 108(5) pp. 394​-397​.​
    ​Details  PMID  PMC  WoS 
  • 2001 | Journal Article
    ​ ​Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques​
    Sauermann, U.; Nürnberg, P.; Bercovitch, F.; Berard, J.; Trefilov, A.; Widdig, A. & Kessler, M. et al.​ (2001) 
    Human Genetics, 108(3) pp. 249​-254​.​ DOI: https://doi.org/10.1007/s004390100485 
    ​Details  DOI 
  • 2001 | Journal Article
    ​ ​Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders​
    Schroder, B.; Franz, B.; Hempfling, P.; Selbert, M.; Juergens, T.; Kretzschmar, H. A. & Bodemer, M. et al.​ (2001) 
    Human Genetics, 109(3) pp. 319​-325​.​ DOI: https://doi.org/10.1007/s004390100591 
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  • 1995 | Journal Article
    ​ ​Distribution of human endogenous retrovirus HERV-K genomes in humans and different primates​
    Steinhuber, S.; Brack, M.; Hunsmann, G.; Schwelberger, H.; Dierich, M. & Vogetseder, W.​ (1995) 
    Human Genetics, 96(2) pp. 188​-192​.​ DOI: https://doi.org/10.1007/BF00207377 
    ​Details  DOI 
  • 1980 | Journal Article
    ​ ​Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation​
    Steinbach, P.; Horstmann, W. & Scholz, W.​ (1980) 
    Human Genetics, 54(3) pp. 309​-313​.​ DOI: https://doi.org/10.1007/BF00291574 
    ​Details  DOI 

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