SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy - Katharina Vill; Wolfgang Müller-Felber; Dieter Gläser; Marius Kuhn; Veronika Teusch; Herbert Schreiber; Joachim Weis; Jörg Klepper; Anja Schirmacher; Astrid Blaschek; Manuela Wiessner; Tim M. Strom; et al. (Human Genetics, 2018)

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) - Nuria C. Bramswig; Aida M. Bertoli-Avella; Beate Albrecht; Aida I. Al Aqeel; Amal Alhashem; Nouriya Al-Sannaa; Maissa Bah; Katharina Bröhl; Christel Depienne; Nathalie Dorison; Diane Doummar; Nadja Ehmke; et al. (Human Genetics, 2018)

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies - Daniel Fritzen; Alma Kuechler; Mona Grimmel; Jessica Becker; Sophia Peters; Marc Sturm; Hela Hundertmark; Axel Schmidt; Martina Kreiß; Tim M. Strom; Dagmar Wieczorek; Tobias B. Haack; et al. (Human Genetics, 2018)

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes - Muhammad Umair; Heide Seidel; Ishtiaq Ahmed; Asmat Ullah; Tobias B. Haack; Bader Alhaddad; Abid Jan; Afzal Rafique; Tim M. Strom; Farooq Ahmad; Thomas Meitinger; Wasim Ahmad (Journal of Genetics, 2017)

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability - Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; et al. (Human Genetics, 2017)

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies - Maja Hempel; Teresa Casar Tena; Thilo Diehl; Martina S. Burczyk; Tim M. Strom; Christian Kubisch; Melanie Philipp; Davor Lessel (Human Genetics, 2017)

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes - Ilaria Parenti; María E. Teresa-Rodrigo; Jelena Pozojevic; Sara Ruiz Gil; Ingrid Bader; Diana Braunholz; Nuria C. Bramswig; Cristina Gervasini; Lidia Larizza; Lutz Pfeiffer; Ferda Ozkinay; Feliciano Ramos; et al. (Human Genetics, 2017)

Neonatal encephalocardiomyopathy caused by mutations in VARS2 - Fabian Baertling; Bader Alhaddad; Annette Seibt; Sonja Budaeus; Thomas Meitinger; Tim M. Strom; Ertan Mayatepek; Jörg Schaper; Holger Prokisch; Tobias B. Haack; Felix Distelmaier (Metabolic Brain Disease, 2017)

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation - Sibylle Sabrautzki; Michael A. Sandholzer; Bettina Lorenz-Depiereux; Robert Brommage; Gerhard Przemeck; Ingrid L. Vargas Panesso; Alexandra Vernaleken; Lillian Garrett; Katharina Baron; Ali O. Yildirim; Jan Rozman; Birgit Rathkolb; et al. (Mammalian Genome, 2016)

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum - Katharina Danhauser; Tobias B. Haack; Bader Alhaddad; Marlen Melcher; Annette Seibt; Tim M. Strom; Thomas Meitinger; Dirk Klee; Ertan Mayatepek; Holger Prokisch; Felix Distelmaier (Metabolic Brain Disease, 2016)

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia - Susanne Diener; Sieglinde Bayer; Sibylle Sabrautzki; Thomas Wieland; Birgit Mentrup; Gerhard K. H. Przemeck; Birgit Rathkolb; Elisabeth Graf; Wolfgang Hans; Helmut Fuchs; Marion Horsch; Thomas Schwarzmayr; et al. (Mammalian Genome, 2016)

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes - Nuria C. Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H. Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; et al. (Human Genetics, 2015)

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum - Alma Kuechler; Marjolein H. Willemsen; Beate Albrecht; Carlos A. Bacino; Dennis W. Bartholomew; Hans van Bokhoven; Marie Jose H. van den Boogaard; Nuria Bramswig; Christian Büttner; Kirsten Cremer; Johanna Christina Czeschik; Hartmut Engels; et al. (Human Genetics, 2015)

Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis - Sibylle Sabrautzki; Isabel Rubio-Aliaga; Wolfgang Hans; Helmut Fuchs; Birgit Rathkolb; Julia Calzada-Wack; Christian M. Cohrs; Matthias Klaften; Hartwig Seedorf; Sebastian Eck; Ana Benet-Pagès; Jack Favor; et al. (Mammalian Genome, 2014)

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis - Sibylle Sabrautzki; Isabel Rubio-Aliaga; Wolfgang Hans; Helmut Fuchs; Birgit Rathkolb; Julia Calzada-Wack; Christian M. Cohrs; Matthias Klaften; Hartwig Seedorf; Sebastian Eck; Ana Benet-Pagès; Jack Favor; et al. (Mammalian Genome, 2012)

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice - Leona H. Gagnon; Joiel D. Bauschatz; Muriel T. Davisson; Linda L. Washburn; Leah Rae Donahue; Tim M. Strom; Eva M. Eicher; Kenneth R. Johnson; Victoria E. Guido; Bettina Lorenz-Depiereux; Qing Yin Zheng (Mammalian Genome, 2004)

Abstracts of the 6th FECS Conference 1998 Lectures - F. Sherwood Rowland; Donald R. Blake; B. R. Larsen; Anne Lindskog; Peter J. Peterson; W. Peter Williams; T. J. Wallington; M. J. Pilling; N. Carslaw; D. J. Creasey; D. E. Heard; P. Jacobs; et al. (Environmental Science and Pollution Research, 1998)