Lista de obras - Malte Spielmann - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

A human cell atlas of fetal gene expression

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

artículo científico publicado en 2016

CNVs of noncoding cis-regulatory elements in human disease

artículo científico publicado en 2013

CRISPR/Cas9 Genome Editing in Embryonic Stem Cells

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico

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.

artículo científico publicado en 2017

Deletions of chromosomal regulatory boundaries are associated with congenital disease

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

scientific article published on 17 June 2019

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

artículo científico publicado en 2020

Embryo-scale, single-cell spatial transcriptomics

artículo científico publicado en 2021

Enhanced susceptibility to infections in a diabetic wound healing model

artículo científico publicado en 2008

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

artículo científico publicado en 2016

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Formation of new chromatin domains determines pathogenicity of genomic duplications

artículo científico publicado en 2016

Frequency of symptomatic zinc deficiency in very low birth weight infants

artículo científico publicado en 2012

Gene therapy in cutaneous wound healing

artículo científico publicado en 2007

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

artículo científico publicado en 2019

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

scientific article published on 02 February 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

scholarly article by Tobias Hirsch published in March 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Minced skin for tissue engineering of epithelialized subcutaneous tunnels

artículo científico publicado en 2009

Minced urothelium to create epithelialized subcutaneous conduits

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Response to Peron et al.

artículo científico publicado en 2018

Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson's disease ⬇️

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Split hand/foot malformation associated with 20p12.1 deletion: A case report

scientific article published on 04 November 2019

Structural variation in the 3D genome.

artículo científico publicado en 2018

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

artículo científico

The Liebenberg syndrome: in depth analysis of the original family

artículo científico publicado en 2013

The single-cell transcriptional landscape of mammalian organogenesis

artículo científico publicado en 2019

VarFish: comprehensive DNA variant analysis for diagnostics and research

artículo científico publicado en 2020

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

[Prenatal Diagnostics and Postnatal Complications in a Case of Extremely Rare Tetra-Amelia]

artículo científico publicado en 2020

Lista de obras de Malte Spielmann

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

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

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

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

A human cell atlas of fetal gene expression

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

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

CNVs of noncoding cis-regulatory elements in human disease

CRISPR/Cas9 Genome Editing in Embryonic Stem Cells

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

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

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.

Deletions of chromosomal regulatory boundaries are associated with congenital disease

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

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

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease

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

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

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

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

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Embryo-scale, single-cell spatial transcriptomics

Enhanced susceptibility to infections in a diabetic wound healing model

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

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

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

Formation of new chromatin domains determines pathogenicity of genomic duplications

Frequency of symptomatic zinc deficiency in very low birth weight infants

Gene therapy in cutaneous wound healing

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

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

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

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

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

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

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

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

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

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

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

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

Minced skin for tissue engineering of epithelialized subcutaneous tunnels

Minced urothelium to create epithelialized subcutaneous conduits

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

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

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.

Response to Peron et al.

Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson's disease ⬇️

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

Split hand/foot malformation associated with 20p12.1 deletion: A case report

Structural variation in the 3D genome.

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

The Liebenberg syndrome: in depth analysis of the original family

The single-cell transcriptional landscape of mammalian organogenesis

VarFish: comprehensive DNA variant analysis for diagnostics and research

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

[Prenatal Diagnostics and Postnatal Complications in a Case of Extremely Rare Tetra-Amelia]