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Publications by Dorota Monies

Lessons Learned From Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American Journal of Human Genetics
Genetics
2019English

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

American Journal of Human Genetics
Genetics
2019English

Lessons Learned From Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American Journal of Human Genetics
Genetics
2019English

Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies

Genetics in Medicine
MedicineGenetics
2015English

Clinical Genomics Can Facilitate Countrywide Estimation of Autosomal Recessive Disease Burden

Genetics in Medicine
MedicineGenetics
2016English

Novel Phenotypes and Loci Identified Through Clinical Genomics Approaches to Pediatric Cataract

Human Genetics
Genetics
2016English

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