Concepedia
Statistics
Publications
9
Citations
972
H-Index
Active since
2015
Affiliations
Harvard University(Current)
Howard Hughes Medical Institute
Baylor College of Medicine
Texas Children's Hospital
Columbia University
Alanna E. Koehler is an author at Harvard University specializing in medicine, genetics, and developmental biology.
Top concepts
MedicineGeneticsDevelopmental BiologyNeuroscienceNeurogeneticsMolecular GeneticsOmicsDiagnosisPathologyData Mining
Publications per year
2015–2019
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text
Disease Diagnosis, Network Science, Health Informatics +12
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger et al. · The American Journal of Human Genetics · 2015 · 164 citations · Full text
Mendelian Disorder, Genetic Disorder, Natural Sciences +7
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text
Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi, Loren D.M. Peña, Katherine Kim et al. · The American Journal of Human Genetics · 2016 · 86 citations · Full text
Allelic Variant, Systems Biology, Somatic Variant +8
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