Lista de obras - Pierre Lindenbaum - Dominio Público Uruguay

Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells

artículo científico publicado en 2017

Acknowledging contributions to online expert assistance

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

artículo científico publicado en 2015

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

artículo científico publicado en 2007

Beautifying Data in the Real World ⬇️

chapter from a book from 2009

BioStar: An Online Question & Answer Resource for the Bioinformatics Community

artículo científico publicado en 2011

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

artículo científico publicado en 2013

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scholarly article published in Nature Genetics

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

artículo científico publicado en 2019

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

artículo científico publicado en 2018

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

JfxNgs : A BAM/VCF viewer with javascript-based filtering/reformatting functionalities

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

artículo científico publicado en 2011

Mass spectrometry-based identification of native cardiac Nav1.5 channel α subunit phosphorylation sites.

artículo científico publicado en 2012

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

artículo científico publicado en 2013

NGS library preparation may generate artifactual integration sites of AAV vectors.

artículo científico publicado en 2014

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

scientific article published on 19 November 2020

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

artículo científico publicado en 2019

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

artículo científico publicado en 2018

RoXaN, a novel cellular protein containing TPR, LD, and zinc finger motifs, forms a ternary complex with eukaryotic initiation factor 4G and rotavirus NSP3

artículo científico publicado en 2004

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

artículo científico publicado en 2009

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

artículo científico publicado en 2015

Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA.

artículo científico publicado en 2015

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologies

artículo científico publicado en 2013

The Gene Wiki: community intelligence applied to human gene annotation

artículo científico publicado en 2010

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

artículo científico publicado en 2011

bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files

artículo científico publicado en 2017

mod_bio: Apache modules for Next-Generation sequencing data

artículo científico publicado en 2014

Lista de obras de Pierre Lindenbaum

Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells

Acknowledging contributions to online expert assistance

Acknowledging contributions to online expert assistance

Acknowledging contributions to online expert assistance

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

Beautifying Data in the Real World ⬇️

BioStar: An Online Question & Answer Resource for the Bioinformatics Community

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

JfxNgs : A BAM/VCF viewer with javascript-based filtering/reformatting functionalities

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Mass spectrometry-based identification of native cardiac Nav1.5 channel α subunit phosphorylation sites.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

NGS library preparation may generate artifactual integration sites of AAV vectors.

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

RoXaN, a novel cellular protein containing TPR, LD, and zinc finger motifs, forms a ternary complex with eukaryotic initiation factor 4G and rotavirus NSP3

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA.

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologies

The Gene Wiki: community intelligence applied to human gene annotation

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files

mod_bio: Apache modules for Next-Generation sequencing data