List of works - Peter Krawitz

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

scientific article

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

scientific article

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

scientific article published on 5 April 2018

Basin entropy in Boolean network ensembles

scientific article published on 9 April 2007

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

scientific article published on 4 February 2015

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

scientific article published on 03 September 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.

scientific article published on 9 January 2018

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

scientific article published on 3 April 2017

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

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

scientific article published on 08 November 2021

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

scientific article published on 20 January 2022

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

scientific article

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

scientific article published in November 2017

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

scientific article

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

scientific article published on 01 December 2001

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

scientific article

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

scientific article

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

scientific article published on 06 March 2013

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

scientific article

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

scientific article published on 20 November 2013

Entropy of complex relevant components of Boolean networks

scientific article published on 27 September 2007

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

scientific article

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

scientific article (publication date: 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

scientific article

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

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

scientific article published on 09 June 2020

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

scientific article

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

scientific article

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

scientific article published on 7 July 2011

Identifying facial phenotypes of genetic disorders using deep learning

scientific article published on 07 January 2019

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

scientific article

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

scientific article

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

scientific article

Jannovar: a java library for exome annotation

scientific article

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

scientific article

Key features and clinical variability of COG6-CDG.

scientific article published on 29 July 2015

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

scientific article published on 25 February 2013

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

scientific article published on 6 January 2012

Microindel detection in short-read sequence data

scientific article

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

scientific article published on September 2011

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

scientific article

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

scientific article

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

scientific article published in Scientific Reports

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

scientific article published on 4 August 2017

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

scientific article published on 16 January 2014

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

scientific article

Mutations in WNT1 cause different forms of bone fragility

scientific article

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

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

scientific article published on April 2013

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

scientific article published on 7 February 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

scientific article published on 27 April 2016

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

scientific article published on 5 June 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 August 2015

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

scientific article

The genomic birthday paradox: how much is enough?

scientific article published on 2 August 2015

Use of animal models for exome prioritization of rare disease genes

article

VZV meningitis following varicella vaccine

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 2013

List of works by 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.