List of works - Dominik Seelow

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

scientific article

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

scientific article

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

scientific article

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

scientific article

AssociationDB: web-based exploration of genomic association

scientific article published on 27 July 2007

AutozygosityMapper: Identification of disease-mutations in consanguineous families

scientific article published on 14 April 2022

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

scientific article published on 31 May 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

scientific article published on 4 November 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

scientific article

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

FragIdent--automatic identification and characterisation of cDNA-fragments

scientific article

GeneDistiller--distilling candidate genes from linkage intervals

scientific article

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

scientific article published on 4 August 2010

Genome-wide array analysis of normal and malformed human hearts

scientific article published on 12 May 2003

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

scientific article

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

scientific article published on 6 February 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

scientific article published on 21 May 2009

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

scientific article published on 4 June 2012

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

scientific article published on 9 May 2013

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

scientific article

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

scientific article

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 ⬇️

scientific article (publication date: August 2010)

MutationTaster2021

scientific article published on 01 April 2021

MutationTaster2: mutation prediction for the deep-sequencing age.

scientific article published in April 2014

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

scientific article

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

scientific article

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

scientific article

Phenotero: Annotate as you write

scientific article published on 07 December 2018

Phenotero: annotate as you write

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

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

scientific article

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

scientific article

d-matrix - database exploration, visualization and analysis

scientific article

List of works by 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