Lista de obras - Ian M. Campbell - Dominio Público Uruguay

A Not So Common Infection in an Extremely Low-Birth-Weight Infant

artículo científico publicado en 2020

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

artículo científico publicado en 2016

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

artículo científico publicado en 2015

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

artículo científico publicado en 2015

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Differential transit peptide recognition during preprotein binding and translocation into flowering plant plastids

artículo científico publicado en 2012

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics

article

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

artículo científico publicado en 2015

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

artículo científico publicado en 2015

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

artículo científico publicado en 2014

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

artículo científico publicado en 2014

In VitroComparative Kinetic Analysis of the Chloroplast Toc GTPases

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

artículo científico publicado en 2013

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

artículo científico publicado en 2012

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

artículo científico publicado en 2014

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

artículo científico publicado en 2013

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

artículo científico publicado en 2013

Secondary findings and carrier test frequencies in a large multiethnic sample

artículo científico publicado en 2015

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

artículo científico publicado en 2011

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

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

artículo científico publicado en 2014

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

artículo científico publicado en 2014

Variant interpretation through Bayesian fusion of frequency and genomic knowledge

artículo científico publicado en 2015

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

artículo científico publicado en 2020

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

artículo científico publicado en 2018

Lista de obras de Ian M. Campbell

A Not So Common Infection in an Extremely Low-Birth-Weight Infant

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

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

Differential transit peptide recognition during preprotein binding and translocation into flowering plant plastids

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

In VitroComparative Kinetic Analysis of the Chloroplast Toc GTPases

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

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Secondary findings and carrier test frequencies in a large multiethnic sample

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

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

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

Variant interpretation through Bayesian fusion of frequency and genomic knowledge

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia