List of works - Philip M. Boone

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

scientific article published on 07 July 2011

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

scientific article

Analysis of the ABCA4 genomic locus in Stargardt disease

scientific article

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

scientific article published on 21 October 2019

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

scientific article published on 16 May 2013

Detection of clinically relevant copy number variants with whole-exome sequencing

scientific article

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

scientific article

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

Genomic medicine and neurological disease.

scientific article

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

scientific article

Incidental copy-number variants identified by routine genome testing in a clinical population

scientific article published on 09 August 2012

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

scientific article

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

scientific article published in December 2014

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

scientific article

The Genetics of Pneumothorax

scientific article published on 01 June 2019

List of works by Philip M. Boone

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Analysis of the ABCA4 genomic locus in Stargardt disease

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Detection of clinically relevant copy number variants with whole-exome sequencing

Detection of clinically relevant exonic copy-number changes by array CGH.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Genetic architecture of laterality defects revealed by whole exome sequencing

Genomic medicine and neurological disease.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Incidental copy-number variants identified by routine genome testing in a clinical population

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

The Genetics of Pneumothorax