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List of works by Ian M. Campbell

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

scientific article published on 07 June 2020

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

scientific article published on 2 February 2016

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

scientific article published on 23 April 2015

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

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

scientific article published on 7 December 2015

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

scientific article published on August 2015

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

scientific article published on 16 May 2013

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

scientific article published on 24 July 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

scientific article (publication date: 2013)

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

scientific article published on November 2015

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

scientific article

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

scientific article

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

scientific article

In VitroComparative Kinetic Analysis of the Chloroplast Toc GTPases

scientific article published in Journal of Biological Chemistry

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

scientific article published on 09 August 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 5 August 2013

Secondary findings and carrier test frequencies in a large multiethnic sample

scientific article published on 13 June 2015

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

scientific article

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

scientific article

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

scientific article published on December 2014

Variant interpretation through Bayesian fusion of frequency and genomic knowledge

scientific article

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

scientific article published on 27 December 2020

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

scientific article published in October 2018