Projects per year
Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit
Ontology
Engineering & Materials Science
Advisory Committees
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Rare Diseases
Medicine & Life Sciences
Databases
Medicine & Life Sciences
Biological Ontologies
Medicine & Life Sciences
Research
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Profiles
Projects 1998 2020
Semantic LAMHDI: Linking diseases to model organism resources
6/1/12 → 5/31/20
Project: Research project › Resource-Related Research Projects
Semantics
Phenotype
Research Personnel
Biological Models
Eagles
DIFFERENTIATION FACTOR RECEPTORS AND NEURAL CELL FATE
9/30/00 → …
Project: Research project › Postdoctoral Individual National Research Service Award
Sensory Receptor Cells
Motor Neurons
Neurons
Maintenance
Zebrafish
TRAPPING NOVEL GENES INVOLVED IN NEURAL DEVELOPMENT
1/17/98 → …
Project: Research project › Predoctoral Individual National Research Service Award
Genes
Embryonic Stem Cells
Nervous System
Clone Cells
Neurons
Research Output 2006 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Undiagnosed Diseases Network, Jun 15 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-12 12 p.Research output: Contribution to journal › Article
Exome
Genome
Computational Biology
Genetic Association Studies
Genomics
1
Citations
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Undiagnosed Diseases Network, Mar 1 2018, In : American Journal of Human Genetics. 102, 3, p. 494-504 11 p.Research output: Contribution to journal › Article
Hyperammonemia
Mitochondrial Diseases
Lactic Acidosis
Oxidative Phosphorylation
Fibroblasts
1
Citations
Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Undiagnosed Diseases Network Members, Apr 1 2018, In : Genetics in Medicine. 20, 4, p. 464-469 6 p.Research output: Contribution to journal › Article
Exome
Molecular Pathology
Rare Diseases
Phenotype
Systemic Hyalinosis