Lista de obras - Evan A Boyle - Dominio Público Uruguay

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

An Expanded View of Complex Traits: From Polygenic to Omnigenic

artículo científico publicado en 2017

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

artículo científico publicado en 2016

BRCA Testing by Single-Molecule Molecular Inversion Probes

artículo científico publicado en 2016

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

artículo científico publicado en 2014

Detection of human adaptation during the past 2000 years

artículo científico publicado en 2016

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements.

artículo científico publicado en 2017

Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens

artículo científico publicado en 2017

Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility

artículo científico publicado en 2013

High-resolution mapping of cancer cell networks using co-functional interactions

High-throughput biochemical profiling reveals Cas9 off-target binding and unbinding heterogeneity

High-throughput biochemical profiling reveals sequence determinants of dCas9 off-target binding and unbinding

artículo científico publicado en 2017

Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens

artículo científico publicado en 2018

KIAA0586 is Mutated in Joubert Syndrome

artículo científico publicado en 2015

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

artículo científico publicado en 2014

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

artículo científico publicado en 2015

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

artículo científico publicado en 2016

Reduced signal for polygenic adaptation of height in UK Biobank

artículo científico publicado en 2019

Saturation editing of genomic regions by multiplex homology-directed repair

artículo científico publicado en 2014

Lista de obras de Evan A Boyle

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

An Expanded View of Complex Traits: From Polygenic to Omnigenic

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

BRCA Testing by Single-Molecule Molecular Inversion Probes

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

Detection of human adaptation during the past 2000 years

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements.

Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens

Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility

High-resolution mapping of cancer cell networks using co-functional interactions

High-throughput biochemical profiling reveals Cas9 off-target binding and unbinding heterogeneity

High-throughput biochemical profiling reveals sequence determinants of dCas9 off-target binding and unbinding

Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens

KIAA0586 is Mutated in Joubert Syndrome

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Reduced signal for polygenic adaptation of height in UK Biobank

Saturation editing of genomic regions by multiplex homology-directed repair