List of works - Malte Spielmann

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

Formation of new chromatin domains determines pathogenicity of genomic duplications

scientific article

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

scientific article

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

scientific article

The single-cell transcriptional landscape of mammalian organogenesis

scientific article published on 20 February 2019

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

scientific article published on 4 February 2015

Structural variation in the 3D genome

scientific article published on 24 April 2018

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

scientific article published on 25 August 2016

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

scientific article published on 11 June 2015

Deletions of chromosomal regulatory boundaries are associated with congenital disease

scientific article

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

scientific article

Human beta-defensin-3 promotes wound healing in infected diabetic wounds

scholarly article by Tobias Hirsch published in March 2009

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

scientific article published on 20 February 2015

Looking beyond the genes: the role of non-coding variants in human disease

scientific article published on 27 June 2016

Structural variations, the regulatory landscape of the genome and their alteration in human disease

scientific article published on April 29, 2013

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

scientific article published on 29 April 2011

Enhanced susceptibility to infections in a diabetic wound healing model

scientific article

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

scientific article published on 17 February 2014

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

scientific article

CNVs of noncoding cis-regulatory elements in human disease

scientific article published on April 16, 2013

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

scientific article

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

scientific article published on 27 September 2018

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

scientific article

Insulin-like growth factor-1 gene therapy and cell transplantation in diabetic wounds

scientific article

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

scientific article

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

Cd2+-induced swelling-contraction dynamics in isolated kidney cortex mitochondria: role of Ca2+ uniporter, K+ cycling, and protonmotive force

scientific article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

scientific article

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

scientific article

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

scientific article

Gene therapy in cutaneous wound healing

scientific article published on January 2007

CRISPR/Cas9 Genome Editing in Embryonic Stem Cells

scientific article published in January 2017

Minced urothelium to create epithelialized subcutaneous conduits

scientific article published on 19 June 2010

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

scientific article published on 02 February 2019

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

scientific article

Frequency of symptomatic zinc deficiency in very low birth weight infants

scientific article published on 20 July 2012

Minced skin for tissue engineering of epithelialized subcutaneous tunnels

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review

scientific article

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

scientific article published on 24 January 2019

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

scientific article published on 6 January 2016

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

scientific article published on 8 September 2016

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

scientific article published on 21 May 2020

The Liebenberg syndrome: in depth analysis of the original family

scientific article published on 12 August 2013

A human cell atlas of fetal gene expression

scientific article published on 01 November 2020

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

scientific article published on 4 August 2017

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

scientific article published on 29 January 2016

VarFish: comprehensive DNA variant analysis for diagnostics and research

scientific article published on 27 April 2020

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

scientific article published on 18 November 2015

List of works by Malte Spielmann

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Formation of new chromatin domains determines pathogenicity of genomic duplications

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

The single-cell transcriptional landscape of mammalian organogenesis

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Structural variation in the 3D genome

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

Human beta-defensin-3 promotes wound healing in infected diabetic wounds

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Looking beyond the genes: the role of non-coding variants in human disease

Structural variations, the regulatory landscape of the genome and their alteration in human disease

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

Enhanced susceptibility to infections in a diabetic wound healing model

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

CNVs of noncoding cis-regulatory elements in human disease

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Insulin-like growth factor-1 gene therapy and cell transplantation in diabetic wounds

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Noncoding copy-number variations are associated with congenital limb malformation.

Cd2+-induced swelling-contraction dynamics in isolated kidney cortex mitochondria: role of Ca2+ uniporter, K+ cycling, and protonmotive force

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Gene therapy in cutaneous wound healing

CRISPR/Cas9 Genome Editing in Embryonic Stem Cells

Minced urothelium to create epithelialized subcutaneous conduits

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

Frequency of symptomatic zinc deficiency in very low birth weight infants

Minced skin for tissue engineering of epithelialized subcutaneous tunnels

PEDIA: prioritization of exome data by image analysis

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

The Liebenberg syndrome: in depth analysis of the original family

A human cell atlas of fetal gene expression

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

VarFish: comprehensive DNA variant analysis for diagnostics and research

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation