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Publications by Melanie Bahlo

Genome-Wide Analyses Identify Common Variants Associated With Macular Telangiectasia Type 2

Nature Genetics

English

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

American Journal of Human Genetics

English

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

American Journal of Human Genetics

English

Detecting Expansions of Tandem Repeats in Cohorts Sequenced With Short-Read Sequencing Data

American Journal of Human Genetics

English

Using Familial Information for Variant Filtering in High-Throughput Sequencing Studies

English

In Silico Prioritization Based on Coexpression Can Aid Epileptic Encephalopathy Gene Discovery

Neurology: Genetics

English

A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis

Molecular Biology

Cancer Research

English

Mutations in the First MyTH4 Domain ofMYO15Aare a Common Cause of DFNB3 Hearing Loss

Otorhinolaryngology

English

A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family

American Journal of Medical Genetics, Part A

English