Molecular Genetics & Genomic Medicine

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  • 2020 | Journal Article
    ​ ​An update of pathogenic variants in ASPM , WDR62, CDK5RAP2 , STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan​
    Rasool, S.; Baig, J. M.; Moawia, A.; Ahmad, I.; Iqbal, M.; Waseem, S. S. & Asif, M. et al.​ (2020) 
    Molecular Genetics & Genomic Medicine, 8(9).​ DOI: https://doi.org/10.1002/mgg3.1408 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency​
    Staretz‐Chacham, O.; Schlotawa, L.; Wormser, O.; Golan‐Tripto, I.; Birk, O. S.; Ferreira, C. R. & Dierks, T. et al.​ (2020) 
    Molecular Genetics & Genomic Medicine, 8(9).​ DOI: https://doi.org/10.1002/mgg3.1167 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon​
    Schucht, S.; Minso, R.; Lex, C. ; Reiss, J.; Stanke, F.; Tamm, S. & van Barneveld, A. et al.​ (2019) 
    Molecular Genetics & Genomic Medicine, 7(2) pp. e00526​.​ DOI: https://doi.org/10.1002/mgg3.526 
    ​Details  DOI 
  • 2018 | Journal Article | 
    ​ ​The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome​
    van der Sluijs, P. J.; Jansen, S.; Vergano, S. A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A. & Baban, A. et al.​ (2018) 
    Genetics in Medicine, 21(6) pp. 1295​-1307​.​ DOI: https://doi.org/10.1038/s41436-018-0330-z 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​
    Moosa, S. ; Altmüller, J.; Lyngbye, T.; Christensen, R.; Li, Y. ; Nürnberg, P. & Yigit, G.  et al.​ (2017) 
    Molecular Genetics & Genomic Medicine, 5(5) pp. 580​-584​.​ DOI: https://doi.org/10.1002/mgg3.287 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations​
    Rath, M.; Spiegler, S.; Nath, N.; Schwefel, K.; Di Donato, N.; Gerber, J. & Korenke, G. C. et al.​ (2016) 
    Molecular Genetics & Genomic Medicine, 5(1) pp. 21​-27​.​ DOI: https://doi.org/10.1002/mgg3.256 
    ​Details  DOI 
  • 2016 | Journal Article | 
    ​ ​The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy​
    Pehlivan, D.; Beck, C. R.; Okamoto, Y.; Harel, T.; Akdemir, Z. H. C.; Jhangiani, S. N. & Withers, M. A. et al.​ (2016) 
    Genetics in Medicine, 18(5) pp. 443​-451​.​ DOI: https://doi.org/10.1038/gim.2015.124 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | 
    ​ ​Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters​
    Matthaei, J.; Tzvetkov, M. V.; Gal, V.; Sachse-Seeboth, C.; Sehrt, D.; Hjelmborg, J. B. & Hofmann, U. et al.​ (2016) 
    Genome Medicine, 8 art. 119​.​ DOI: https://doi.org/10.1186/s13073-016-0372-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​Mutations in CDK5RAP2 cause Seckel syndrome​
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al.​ (2015) 
    Molecular Genetics & Genomic Medicine, 3(5) pp. 467​-480​.​ DOI: https://doi.org/10.1002/mgg3.158 
    ​Details  DOI 
  • 2015 | Journal Article | 
    ​ ​The oxidative demethylase ALKBH3 marks hyperactive gene promoters in human cancer cells​
    Liefke, R.; Windhof-Jaidhauser, I. M.; Gaedcke, J.; Salinas-Riester, G.; Wu, F.; Ghadimi, M. B. & Dango, S.​ (2015) 
    Genome Medicine, 7 art. 66​.​ DOI: https://doi.org/10.1186/s13073-015-0180-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | 
    ​ ​Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1​
    Seitz, T.; Stalmann, R.; Dalila, N.; Chen, J. ; Pojar, S.; Pereira, J. N. dos S. & Kraetzner, R. et al.​ (2015) 
    Genome Medicine, 7 art. 56​.​ DOI: https://doi.org/10.1186/s13073-015-0172-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | 
    ​ ​High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.​
    Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al.​ (2014) 
    Molecular genetics & genomic medicine, 2(2) pp. 176​-185​.​ DOI: https://doi.org/10.1002/mgg3.60 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article
    ​ ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​
    Keupp, K.; Li, Y. ; Vargel, I.; Hoischen, A.; Richardson, R.; Neveling, K. & Alanay, Y. et al.​ (2013) 
    Molecular Genetics & Genomic Medicine, 1(4) pp. 223​-237​.​ DOI: https://doi.org/10.1002/mgg3.28 
    ​Details  DOI 
  • 1997 | Journal Article | 
    ​ ​Astrotactin (ASTN), a gene for glial-guided neuronal migration, maps to human chromosome 1q25.2.​
    Fink, J. M.​ (1997) 
    Genomics, 49(1) pp. 202​-205​.​ DOI: https://doi.org/10.1006/geno.1996.4538 
    ​Details  DOI 

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