Lista de obras - Peter Krawitz - Dominio Público Uruguay

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

artículo científico publicado en 2013

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

artículo científico publicado en 2016

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

artículo científico publicado en 2018

Basin entropy in Boolean network ensembles

artículo científico publicado en 2007

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

artículo científico publicado en 2015

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

artículo científico publicado en 2021

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

artículo científico publicado en 2018

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.

artículo científico publicado en 2017

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

artículo científico publicado en 2009

Combining callers improves the detection of copy number variants from whole-genome sequencing

artículo científico publicado en 2021

Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

artículo científico publicado en 2022

Crowdsourced direct-to-consumer genomic analysis of a family quartet

artículo científico publicado en 2015

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

artículo científico publicado en 2013

Dependence of age-specific incidence of acute myeloid leukemia on karyotype

artículo científico publicado en 2001

Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

scientific journal article

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish

artículo científico publicado en 2013

Entropy of complex relevant components of Boolean networks

artículo científico publicado en 2007

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

artículo científico publicado en 2013

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

artículo científico publicado en 2013

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

article

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

artículo científico publicado en 2012

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 2022

Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data

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

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum

artículo científico publicado en 2011

Identifying facial phenotypes of genetic disorders using deep learning

artículo científico publicado en 2019

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

artículo científico publicado en 2011

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Jannovar: a java library for exome annotation

artículo científico publicado en 2014

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

artículo científico publicado en 2016

Key features and clinical variability of COG6-CDG.

artículo científico publicado en 2015

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

artículo científico publicado en 2013

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

artículo científico publicado en 2012

Microindel detection in short-read sequence data

artículo científico publicado en 2010

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

artículo científico publicado en 2011

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

artículo científico publicado en 2014

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

article published in 2015

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

artículo científico publicado en 2015

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

artículo científico publicado en 2014

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

artículo científico publicado en 2012

Mutations in WNT1 cause different forms of bone fragility

artículo científico publicado en 2013

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

artículo científico publicado en 2015

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

artículo científico publicado en 2013

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

artículo científico publicado en 2012

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

artículo científico publicado en 2016

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

artículo científico publicado en 2017

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

artículo científico publicado en 2014

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

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

artículo científico publicado en 2014

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

artículo científico publicado en 2011

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

artículo científico publicado en 2015

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

artículo científico publicado en 2011

The genomic birthday paradox: how much is enough?

artículo científico publicado en 2015

Use of animal models for exome prioritization of rare disease genes

article

VZV meningitis following varicella vaccine

artículo científico publicado en 2010

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

artículo científico publicado en 2013

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

artículo científico publicado en 2013

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.

artículo científico publicado en 2013

Lista de obras de Peter Krawitz

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Basin entropy in Boolean network ensembles

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Combining callers improves the detection of copy number variants from whole-genome sequencing

Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

Crowdsourced direct-to-consumer genomic analysis of a family quartet

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Dependence of age-specific incidence of acute myeloid leukemia on karyotype

Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3

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

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

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

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish

Entropy of complex relevant components of Boolean networks

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data

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

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

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum

Identifying facial phenotypes of genetic disorders using deep learning

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

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

Jannovar: a java library for exome annotation

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

Key features and clinical variability of COG6-CDG.

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

Microindel detection in short-read sequence data

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

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

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Mutations in WNT1 cause different forms of bone fragility

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

PEDIA: prioritization of exome data by image analysis

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

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

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

The genomic birthday paradox: how much is enough?

Use of animal models for exome prioritization of rare disease genes

VZV meningitis following varicella vaccine

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.