Andrea Superti-Furga
- DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
2017/10/01 by Mathieu Quinodoz, Beryl Royer-Bertrand, Béryl Royer‐Bertrand +5 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Artificial intelligence #Biochemistry #Biology #Computational biology #Computer science #Domino #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Machine learning
- Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
2006/02/03 by Jörn Oliver Sass, Verena Mohr, Heike Olbrich +16 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Amino acid #Biochemistry #Biology #Endocrinology #Gene #Genetics #Glycosylation and Glycoproteins Research #Inborn error of metabolism #Internal medicine #Isoleucine #Leucine #Medicine #Methionine #Missense mutation #Mutation #Peptidase Inhibition and Analysis #Ubiquitin and proteasome pathways #Valine
- Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
2011/05/01 by Lisenka E.L.M. Vissers, Lisenka E.L.M. Vissers, Ekkehart Lausch +21 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Alkaline phosphatase #Biochemical and Molecular Research #Biochemistry #Biology #Brachydactyly #Connective tissue disorders research #Endocrinology #Enzyme #Exome sequencing #Gene #Genetics #Hypophosphatasia #Missense mutation #Mutation #Short stature #Ubiquitin and proteasome pathways
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
2011/01/09 by Ekkehart Lausch, Andreas Janecke, Matthias Bros +22 · 1 citation
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Autoimmunity #Biology #Bone Metabolism and Diseases #Bone and Dental Protein Studies #Cancer research #Dysplasia #Endocrinology #Galectins and Cancer Biology #Genetics #Immune system #Immunology #Osteopontin #Pathogenesis
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
1996/01/01 by Andrea Superti-Furga, Andrea Superti‐Furga, Johanna Hästbacka +10 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Bone health and treatments #Connective tissue disorders research #Proteoglycans and glycosaminoglycans research
- TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
2008/11/01 by Ekkehart Lausch, Pia Hermanns, Henner F. Farin +12 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Congenital Heart Disease Studies #Congenital heart defects research #Tracheal and airway disorders
- FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
2013/05/16 by Sheila Unger, Maria W. Górna, Maria W. Górna +31 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cardiovascular Function and Risk Factors #Congenital heart defects research #Connective tissue disorders research