Browsing by Author "Topf, Ana"

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  • Cummings, Beryl B.; Marshall, Jame L.; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A. Reghan; Bolduc, Veronique; Waddell, Leigh B.; Sandaradura, Sarah A.; O'Grady, Gina L.; Estrella, Elicia; Reddy, Hemakumar M.; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J.; O'Donnell-Luria, Anne H.; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristi; Joshi, Adam Bournazos; Oates, Emily C.; Ghaoui, Roula; Davis, Mark R.; Laing, Nigel G.; Topf, Ana; Genotype-Tissue Expression (GTEx) Consortium; Kang, Peter B.; Beggs, Alan H.; North, Kathryn N.; Straub, Volker; Dowling, James J.; Muntoni, Francesco; Clarke, Nigel F.; Cooper, Sandra T.; Bönnemann, Carsten G.; Guigó Serra, Roderic (American Association for the Advancement of Science (AAAS), 2017)
    Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is ...
  • Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Topf, Ana; de Paula Estephan, Eduardo; Poloavarapu, Kiran; Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns (Wiley-VCH Verlag, 2019)
    Phenotype-based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently unclear how extensive this phenotypic annotation should be. In this ...
  • Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...

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