List of works - James R. Lupski

The complete genome of an individual by massively parallel DNA sequencing

scientific article

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

scientific article published on October 2, 2013

Structural variation in the human genome and its role in disease

scientific article

Mechanisms of change in gene copy number

scientific article

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

scientific article published on November 12, 2014

Copy number variation in human health, disease, and evolution

scientific article

A microhomology-mediated break-induced replication model for the origin of human copy number variation

scientific article

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

scientific article

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

scientific journal article

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

scientific article

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

scientific article

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Mechanisms for human genomic rearrangements

scientific article published on 3 November 2008

Implementing genomic medicine in the clinic: the future is here

scientific article published on 10 January 2013

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

scientific article published on 21 June 2009

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

scientific article (publication date: October 2002)

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

scientific article published on 5 February 2004

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

scientific journal article

Genomic rearrangements and sporadic disease

scientific article published on July 2007

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

scientific article (publication date: April 2004)

Human genome sequencing in health and disease

scientific article

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

scientific article

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

scientific journal article

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

scientific article

Clan genomics and the complex architecture of human disease

scientific article published on September 2011

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

scientific article

Mechanisms underlying structural variant formation in genomic disorders

scientific article published on February 29, 2016

Mechanisms for recurrent and complex human genomic rearrangements

scientific article published on March 20, 2012

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

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

scientific article

Molecular mechanisms for genomic disorders

scientific article

Whole-genome sequencing for optimized patient management

scientific article published in June 2011

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

scientific article

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

scientific article published in December 2006

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

scientific article

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

Complex human chromosomal and genomic rearrangements

scientific article published on 25 June 2009

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

scientific article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

Increased LIS1 expression affects human and mouse brain development

scientific article

Microbial DNA typing by automated repetitive-sequence-based PCR.

scientific article

Non-coding genetic variants in human disease

scientific article

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

scientific article

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

article

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

scientific article

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

scientific article

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

List of works by James R. Lupski

The complete genome of an individual by massively parallel DNA sequencing

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Structural variation in the human genome and its role in disease

Mechanisms of change in gene copy number

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Copy number variation in human health, disease, and evolution

A microhomology-mediated break-induced replication model for the origin of human copy number variation

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Mechanisms for human genomic rearrangements

Implementing genomic medicine in the clinic: the future is here

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Genomic rearrangements and sporadic disease

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Human genome sequencing in health and disease

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Clan genomics and the complex architecture of human disease

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

Mechanisms underlying structural variant formation in genomic disorders

Mechanisms for recurrent and complex human genomic rearrangements

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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

Molecular mechanisms for genomic disorders

Whole-genome sequencing for optimized patient management

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Complex human chromosomal and genomic rearrangements

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Increased LIS1 expression affects human and mouse brain development

Microbial DNA typing by automated repetitive-sequence-based PCR.

Non-coding genetic variants in human disease

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching