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

No photo of John Banerjee

John Banerjee

Person: Academic

19982017
No photo of Tracy Dana

Tracy Dana

Person: Academic

20062017
No photo of David Forero

David Forero

Person: Academic

Projects 1998 2020

Semantic LAMHDI: Linking diseases to model organism resources

Haendel, M.

National Institutes of Health

6/1/125/31/20

Project: Research projectResource-Related Research Projects

Semantics
Phenotype
Research Personnel
Biological Models
Eagles

DIFFERENTIATION FACTOR RECEPTORS AND NEURAL CELL FATE

Haendel, M.

National Institutes of Health

9/30/00 → …

Project: Research projectPostdoctoral Individual National Research Service Award

Sensory Receptor Cells
Motor Neurons
Neurons
Maintenance
Zebrafish

TRAPPING NOVEL GENES INVOLVED IN NEURAL DEVELOPMENT

Haendel, M.

National Institutes of Health

1/17/98 → …

Project: Research projectPredoctoral 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 journalArticle

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 journalArticle

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 journalArticle

Exome
Molecular Pathology
Rare Diseases
Phenotype
Systemic Hyalinosis