Lista de obras - Philip M. Boone - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Analysis of the ABCA4 genomic locus in Stargardt disease

artículo científico publicado en 2014

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

Genomic medicine and neurological disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

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

artículo científico publicado en 2014

The Genetics of Pneumothorax

scientific article published on 01 June 2019

Lista de obras de 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