@article{HauerPoppTaheretal.2019,
  author    = {Hauer, Nadine N. and Popp, Bernt and Taher, Leila and Vogl, Carina and Dhandapany, Perundurai S. and B{\"u}ttner, Christian and Uebe, Steffen and Sticht, Heinrich and Ferrazzi, Fulvia and Ekici, Arif B. and De Luca, Alessandro and Klinger, Patrizia and Kraus, Cornelia and Zweier, Christiane and Wiesener, Antje and Abou Jamra, Rami and Kunstmann, Erdmute and Rauch, Anita and Wieczorek, Dagmar and Jung, Anna-Marie and Rohrer, Tilman R. and Zenker, Martin and Doerr, Helmuth-Guenther and Reis, Andr{\´e} and Thiel, Christian T.},
  title     = {Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature},
  series = {European Journal of Human Genetics},
  volume    = {27},
  journal   = {European Journal of Human Genetics},
  doi       = {10.1038/s41431-019-0362-0},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-227899},
  pages     = {1061-1071},
  year      = {2019},
  abstract  = {Height is a heritable and highly heterogeneous trait. Short stature affects 3\% of the population and in most cases is genetic in origin. After excluding known causes, 67\% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequencing in 254 unrelated families with short stature of unknown cause and identified variants in 63 candidate genes in 92 (36\%) independent families. Based on systematic characterization of variants and functional analysis including expression in chondrocytes, we classified 13 genes as strong candidates. Whereas variants in at least two families were detected for all 13 candidates, two genes had variants in 6 (UBR4) and 8 (LAMA5) families, respectively. To facilitate their characterization, we established a clustered network of 1025 known growth and short stature genes, which yielded 29 significantly enriched clusters, including skeletal system development, appendage development, metabolic processes, and ciliopathy. Eleven of the candidate genes mapped to 21 of these clusters, including CPZ, EDEM3, FBRS, IFT81, KCND1, PLXNA3, RASA3, SLC7A8, UBR4, USP45, and ZFHX3. Fifty additional growth-related candidates we identified await confirmation in other affected families. Our study identifies Mendelian forms of growth retardation as an important component of idiopathic short stature.},
  language  = {en}
}
@article{GhoshHoenscheidDueckersetal.2017,
  author    = {Ghosh, Sujal and H{\"o}nscheid, Andrea and D{\"u}ckers, Gregor and Ginzel, Sebastian and Gohlke, Holger and Gombert, Michael and Kempkes, Bettina and Klapper, Wolfram and Kuhlen, Michaela and Laws, Hans-J{\"u}rgen and Linka, Ren{\´e} Martin and Meisel, Roland and Mielke, Christian and Niehues, Tim and Schindler, Detlev and Schneider, Dominik and Schuster, Friedhelm R. and Speckmann, Carsten and Borkhardt, Arndt},
  title     = {Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency},
  series = {Haematologica},
  volume    = {102},
  journal   = {Haematologica},
  number    = {2},
  doi       = {10.3324/haematol.2016.155838},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-180862},
  pages     = {e69-e72},
  year      = {2017},
  abstract  = {No abstract available.},
  language  = {en}
}
@article{HernandezJoseRamirezMinguillonetal.2018,
  author    = {Hern{\´a}ndez, Gonzalo and Jos{\´e} Ram{\´i}rez, Mar{\´i}a and Minguill{\´o}n, Jordi and Quiles, Paco and Ruiz de Garibay, Gorka and Aza-Carmona, Miriam and Bogliolo, Massimo and Pujol, Roser and Prados-Carvajal, Rosario and Fern{\´a}ndez, Juana and Garc{\´i}a, Nadia and L{\´o}pez, Adri{\`a} and Guti{\´e}rrez-Enr{\´i}quez, Sara and Diez, Orland and Ben{\´i}tez, Javier and Salinas, M{\´o}nica and Teul{\´e}, Alex and Brunet, Joan and Radice, Paolo and Peterlongo, Paolo and Schindler, Detlev and Huertas, Pablo and Puente, Xose S. and L{\´a}zaro, Conxi and {\`A}ngel Pujana, Miquel and Surrall{\´e}s, Jordi},
  title     = {Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1},
  series = {Nature Communications},
  volume    = {9},
  journal   = {Nature Communications},
  doi       = {10.1038/s41467-018-03433-3},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-319929},
  year      = {2018},
  abstract  = {BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. Therefore, uncovering additional components of this DNA repair pathway is of extreme importance for further understanding cancer development and therapeutic vulnerabilities. Here, we identify EDC4, a known component of processing-bodies and regulator of mRNA decapping, as a member of the BRCA1-BRIP1-TOPBP1 complex. EDC4 plays a key role in homologous recombination by stimulating end resection at double-strand breaks. EDC4 deficiency leads to genome instability and hypersensitivity to DNA interstrand cross-linking drugs and PARP inhibitors. Lack-of-function mutations in EDC4 were detected in BRCA1/2-mutation-negative breast cancer cases, suggesting a role in breast cancer susceptibility. Collectively, this study recognizes EDC4 with a dual role in decapping and DNA repair whose inactivation phenocopies BRCA1 deficiency.},
  language  = {en}
}
@article{HauerPoppSchoelleretal.2018,
  author    = {Hauer, Nadine N. and Popp, Bernt and Schoeller, Eva and Schuhmann, Sarah and Heath, Karen E. and Hisado-Oliva, Alfonso and Klinger, Patricia and Kraus, Cornelia and Trautmann, Udo and Zenker, Martin and Zweier, Christiane and Wiesener, Antje and Jamra, Rami Abou and Kunstmann, Erdmute and Wieczorek, Dagmar and Uebe, Steffen and Ferrazzi, Fulvia and B{\"u}ttner, Christian and Ekici, Arif B. and Rauch, Anita and Sticht, Heinrich and D{\"o}rr, Helmuth-G{\"u}nther and Reis, Andr{\´e} and Thiel, Christian T.},
  title     = {Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature},
  series = {Genetics in Medicine},
  volume    = {20},
  journal   = {Genetics in Medicine},
  doi       = {10.1038/gim.2017.159},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-227888},
  pages     = {630-638},
  year      = {2018},
  abstract  = {Purpose Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. Methods We systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth. Results By standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13.6\% of the 565 patients. Whole-exome sequencing in 200 patients identified additional mutations in known short-stature genes in 16.5\% of these patients who manifested only part of the symptomatology. In 15.5\% of the 200 patients our findings were of significant clinical relevance. Heterozygous carriers of recessive skeletal dysplasia alleles represented 3.5\% of the cases. Conclusion A combined approach of systematic phenotyping, targeted genetic testing, and whole-exome sequencing allows the identification of the underlying cause of short stature in at least 33\% of cases, enabling physicians to improve diagnosis, treatment, and genetic counseling. Exome sequencing significantly increases the diagnostic yield and consequently care in patients with short stature.},
  language  = {en}
}