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Caroline Van Cauwenbergh et al.
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Christopher M. Watson et al.
BMC MEDICAL GENETICS (2016)
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Samer Khateb et al.
JOURNAL OF MEDICAL GENETICS (2016)
Mechanisms underlying structural variant formation in genomic disorders
Claudia M. B. Carvalho et al.
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Ana R. Cardoso et al.
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Kristy Lee et al.
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Milena M. Andzelm et al.
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Michal Startek et al.
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Berta Almoguera et al.
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Avigail Beryozkin et al.
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Bo Yuan et al.
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Philip M. Boone et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data
Renjie Tan et al.
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Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping
Paula J. P. de Vree et al.
NATURE BIOTECHNOLOGY (2014)
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Jeffrey R. MacDonald et al.
NUCLEIC ACIDS RESEARCH (2014)
Autosomal Recessive Bestrophinopathy Differential Diagnosis and Treatment Options
Camiel J. F. Boon et al.
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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
Heather B. Steele-Stallard et al.
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Koji M. Nishiguchi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
Hannah Verdin et al.
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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia
Philip M. Boone et al.
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Juan I. Pieras et al.
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Liron Dvir et al.
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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Anneke I. den Hollander et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Widespread transcription at neuronal activity-regulated enhancers
Tae-Kyung Kim et al.
NATURE (2010)
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history
Philip M. Kim et al.
GENOME RESEARCH (2008)
Electroporation and RNA interference in the rodent retina in vivo and in vitro
T Matsuda et al.
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Translocation and gross deletion breakpolints in human inherited disease and cancer I: Nucleotide composition and recomblination-assocliated motifs
SS Abeysinghe et al.
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Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
F Ringpfeil et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)