about
Loss of δ-catenin function in severe autismSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis.Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationDefining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.An information-gain approach to detecting three-way epistatic interactions in genetic association studies.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisAn analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Implication of LRRC4C and DPP6 in neurodevelopmental disorders.Cover Image, Volume 173A, Number 2, February 2017Genome-wide de novo risk score implicates promoter variation in autism spectrum disorderPrimary cilia defects causing mitral valve prolapseA structural variation reference for medical and population geneticsThe mutational constraint spectrum quantified from variation in 141,456 humansFunctional annotation of rare structural variation in the human brain
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description
onderzoeker
@nl
researcher
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հետազոտող
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name
Ryan L Collins
@ast
Ryan L Collins
@en
Ryan L Collins
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Ryan L Collins
@nl
Ryan L Collins
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type
label
Ryan L Collins
@ast
Ryan L Collins
@en
Ryan L Collins
@es
Ryan L Collins
@nl
Ryan L Collins
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prefLabel
Ryan L Collins
@ast
Ryan L Collins
@en
Ryan L Collins
@es
Ryan L Collins
@nl
Ryan L Collins
@sl
P108
P106
P31
P496
0000-0003-1268-9995