List of works - Evan A Boyle

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

scientific article

An Expanded View of Complex Traits: From Polygenic to Omnigenic

scientific article (publication date: June 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.

scientific article

BRCA Testing by Single-Molecule Molecular Inversion Probes

scientific article

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

scientific article

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

scientific article

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

scientific article

Detection of human adaptation during the past 2000 years

scientific article

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

scientific article published on 25 September 2017

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

scientific article

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

scientific article published on 05 July 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

scientific article

Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens

scientific article published on 05 November 2018

KIAA0586 is Mutated in Joubert Syndrome

scientific article

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

scientific article

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

scientific article published on 26 February 2015

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

scientific article published on June 2016

Reduced signal for polygenic adaptation of height in UK Biobank

scientific article published on 21 March 2019

Saturation editing of genomic regions by multiplex homology-directed repair

scientific article

List of works by 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