Pierre Lindenbaum
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View article: Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis Open
[This corrects the article DOI: 10.3389/fmed.2024.1480947.].
View article: SURFBAT: a surrogate family based association test building on large imputation reference panels
SURFBAT: a surrogate family based association test building on large imputation reference panels Open
Genotype–phenotype association tests are typically adjusted for population stratification using principal components that are estimated genome-wide. This lacks resolution when analyzing populations with fine structure and/or individuals wi…
View article: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis Open
Background Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time. Methods In this study, we conducted a gene-centri…
View article: Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology Open
BACKGROUND Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed u…
View article: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Open
While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian dis…
View article: Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes
Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes Open
View article: Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line Open
Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects an…
View article: How local reference panels improve imputation in French populations
How local reference panels improve imputation in French populations Open
View article: Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish Open
View article: Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm Open
Intracranial aneurysm (IA) is a common cerebrovascular abnormality characterized by localized dilation and wall thinning in intracranial arteries, which can rupture and lead to fatal subarachnoid hemorrhage. Although the pathophysiology of…
View article: Identification of a Gain-of-Function <i>LIPC</i> Variant as a Novel Cause of Familial Combined Hypocholesterolemia
Identification of a Gain-of-Function <i>LIPC</i> Variant as a Novel Cause of Familial Combined Hypocholesterolemia Open
Background: Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholest…
View article: Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia
Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia Open
View article: Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management Open
Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% o…
View article: Moment estimators of relatedness from low-depth whole-genome sequencing data
Moment estimators of relatedness from low-depth whole-genome sequencing data Open
Background Estimating relatedness is an important step for many genetic study designs. A variety of methods for estimating coefficients of pairwise relatedness from genotype data have been proposed. Both the kinship coefficient $$\varphi$$…
View article: Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Rare pathogenic variants in WNK3 cause X-linked intellectual disability Open
View article: APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants Open
Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia (FHBL) is mostly caused by premature termination codons in t…
View article: Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia Open
Objective: Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (a…
View article: RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature Open
View article: Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster Open
View article: Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly Open
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels. Several genes have been implicated in hol…
View article: Exon-Capture-Based Phylogeny and Diversification of the Venomous Gastropods (Neogastropoda, Conoidea)
Exon-Capture-Based Phylogeny and Diversification of the Venomous Gastropods (Neogastropoda, Conoidea) Open
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View article: Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease Open
Key Points Mutations in a VHL cryptic exon may be found in patients with familial erythrocytosis or VHL disease. Synonymous mutations in VHL exon 2 may induce exon skipping and cause familial erythrocytosis or VHL disease.
View article: Vcf2table : a VCF prettifier.
Vcf2table : a VCF prettifier. Open
’vcf2table’ ’vcf2table’ is a Variant Call Format (VCF) prettyfier. It displays the details of the variants as a set of ASCII tables when they’re viewed through a terminal.
View article: Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm Open
View article: PrettySam : a SAM /BAM prettifier.
PrettySam : a SAM /BAM prettifier. Open
’Prettysam’ is a SAM /BAM prettifier. It displays the de-tails about the short-reads when they’re viewed through a terminal.
View article: bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files
bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files Open
Motivation Reformatting and filtering bioinformatics files are common tasks for bioinformaticians. Standard Linux tools and specific programs are usually used to perform such tasks but there is still a gap between using these tools and the…
View article: De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Open
View article: Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells
Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells Open
Recombinant adeno-associated viral (rAAV) vectors have proven excellent tools for the treatment of many genetic diseases and other complex diseases. However, the illegitimate encapsidation of DNA contaminants within viral particles constit…
View article: JfxNgs: A BAM/VCF viewer with javascript-based filtering/reformatting functionalities
JfxNgs: A BAM/VCF viewer with javascript-based filtering/reformatting functionalities Open
Motivation Visualizing BAM and VCF files is a common task for biologists, but they’re missing a way to filter and to explore the details of each short-read or variation. Results In that context, we wrote an interactive java-based interface…
View article: Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy Open