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Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, p. 1338
Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated... 
Child development deviations | Causes of | Genetic aspects | Gene mutations | Health aspects | Developmental disabilities
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2092 - 2102
To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated... 
somatic mosaicism | amplification-free sequencing | Fuchs endothelial corneal dystrophy | triplet repeat-mediated disease | no-amp targeted sequencing | CRISPR | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 528 - 539
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 10/2013, Volume 131, Issue 10, pp. 1296 - 1296
  Posterior polymorphous corneal dystrophy (PPCD) is a very rare disorder characterized by primary changes of the posterior corneal layers. Sequence variants... 
Genetics | Eye diseases | Cornea | Ophthalmology | Mutation | Pathogenesis
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 09/2017, Volume 26, Issue 17, pp. 3451 - 3451
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1338 - 1352
Journal Article
Bioinformatics, ISSN 1367-4803, 10/2017, Volume 33, Issue 20, pp. 3317 - 3319
Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | EFFICIENT | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 04/2015, Volume 36, Issue 4, pp. 463 - 473
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 321 - 329
Journal Article