Lista de obras - Dominik Seelow - Dominio Público Uruguay

A systematic approach to mapping recessive disease genes in individuals from outbred populations

artículo científico publicado en 2009

A systematic, large-scale comparison of transcription factor binding site models

artículo científico publicado en 2016

Accumulation of CTCF-binding sites drives expression divergence between tandemly duplicated genes in humans

artículo científico publicado en 2014

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

artículo científico publicado en 2008

AssociationDB: web-based exploration of genomic association

artículo científico publicado en 2007

AutozygosityMapper: Identification of disease-mutations in consanguineous families

artículo científico publicado en 2022

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts

artículo científico publicado en 2013

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus

artículo científico publicado en 2014

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

artículo científico publicado en 2010

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

FragIdent--automatic identification and characterisation of cDNA-fragments

artículo científico publicado en 2009

GeneDistiller--distilling candidate genes from linkage intervals

artículo científico publicado en 2008

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

artículo científico publicado en 2010

Genome-wide array analysis of normal and malformed human hearts

artículo científico publicado en 2003

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files

artículo científico publicado en 2014

Harmonising phenomics information for a better interoperability in the rare disease field

artículo científico publicado en 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

artículo científico publicado en 2009

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

artículo científico publicado en 2012

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

artículo científico publicado en 2013

Improved exome prioritization of disease genes through cross-species phenotype comparison

artículo científico publicado en 2014

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

artículo científico publicado en 2010

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

MutationTaster evaluates disease-causing potential of sequence alterations ⬇️

artículo científico publicado el 1 de agosto de 2010

MutationTaster2021

artículo científico publicado en 2021

MutationTaster2: mutation prediction for the deep-sequencing age.

artículo científico publicado en 2014

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

artículo científico publicado en 2006

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

artículo científico publicado en 2006

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

artículo científico publicado en 2002

Phenotero: Annotate as you write

artículo científico publicado en 2018

Phenotero: annotate as you write

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

artículo científico publicado en 2006

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

artículo científico publicado en 2007

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

artículo científico publicado en 2015

SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients

artículo científico publicado en 2021

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing

artículo científico publicado en 2011

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

artículo científico publicado en 2008

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

artículo científico publicado en 2013

d-matrix - database exploration, visualization and analysis

artículo científico publicado en 2004

Lista de obras de Dominik Seelow

A systematic approach to mapping recessive disease genes in individuals from outbred populations

A systematic, large-scale comparison of transcription factor binding site models

Accumulation of CTCF-binding sites drives expression divergence between tandemly duplicated genes in humans

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

AssociationDB: web-based exploration of genomic association

AutozygosityMapper: Identification of disease-mutations in consanguineous families

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

FragIdent--automatic identification and characterisation of cDNA-fragments

GeneDistiller--distilling candidate genes from linkage intervals

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

Genome-wide array analysis of normal and malformed human hearts

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files

Harmonising phenomics information for a better interoperability in the rare disease field

HomozygosityMapper--an interactive approach to homozygosity mapping

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

Improved exome prioritization of disease genes through cross-species phenotype comparison

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

MutationTaster evaluates disease-causing potential of sequence alterations ⬇️

MutationTaster2021

MutationTaster2: mutation prediction for the deep-sequencing age.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

Phenotero: Annotate as you write

Phenotero: annotate as you write

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing

The Human Phenotype Ontology in 2024: phenotypes around the world

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

d-matrix - database exploration, visualization and analysis