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Author Details

Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
2001
98
35
PMIDPaper TitleJournal TitlePublished Year
37468035Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.J Invest Dermatol2024
37503210GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv2024
36322149Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.Genet Med2023
37441549AI-based multi-PRS models outperform classical single-PRS models.Front Genet2023
37203539Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders.Stud Health Technol Inform2023
37398376Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.medRxiv2023
36704342A statistical boosting framework for polygenic risk scores based on large-scale genotype data.Front Genet2023
36484420Perspectives on the future of dysmorphology.Am J Med Genet A2023
36726590<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals.Front Cell Dev Biol2023
34744167Combining callers improves the detection of copy number variants from whole-genome sequencing.Eur J Hum Genet2022
35583903Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages.JAMA Psychiatry2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35571680<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.HGG Adv2022
36589413Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.HGG Adv2022
35970914KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.Eur J Hum Genet2022
36278975[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz2022
36104871Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.Hum Mutat2022
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
32734504New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial.Clin Res Cardiol2021
34693376Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms.Patterns (N Y)2021
34514393CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.NAR Genom Bioinform2021
34159400Genome sequencing in families with congenital limb malformations.Hum Genet2021
34210994TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.NPJ Genom Med2021
34004033Extending the allelic spectrum at noncoding risk loci of orofacial clefting.Hum Mutat2021
33402532A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Proc Natl Acad Sci U S A2021
33429424DeepCNV: a deep learning approach for authenticating copy number variations.Brief Bioinform2021
33263726Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression.JAMA Psychiatry2021
32519455Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data.Cytometry A2020
32019583Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Orphanet J Rare Dis2020
32832215Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals.Transl Vis Sci Technol2020
32725661Evidence of the milder phenotypic spectrum of c.1582G&gt;A PIGT variant: Delineation based on seven novel Polish patients.Clin Genet2020
32282935Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.Br J Dermatol2020
30617323Identifying facial phenotypes of genetic disorders using deep learning.Nat Med2019
31353022Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.Am J Hum Genet2019
31430258Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.J Clin Invest2019
31256876Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.Am J Hum Genet2019
30905398The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.Am J Hum Genet2019
29310717Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Genome Med2018
30279461Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.Sci Rep2018
29623569Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.J Inherit Metab Dis2018
27565584A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.Bioinformatics2017
28369036Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.Nat Genet2017
29100093De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Am J Hum Genet2017
28779001Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunction.J Med Genet2017
28581210Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.Hum Mutat2017
25652421Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.Clin Genet2016
27881174Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.Pediatr Rheumatol Online J2016
27120253Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.Hum Mutat2016
26833332CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.Am J Hum Genet2016
24916641Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.Eur J Hum Genet2015
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Collaborators

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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 37
The Barcelona Institute of Science and Technology
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Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
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Co-authored papers 7
Max Planck Institute for Molecular Genetics FG Development and Disease
Co-authored papers 7
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Co-authored papers 6
Berlin Institute of Health at Charite - Universitatsmedizin Berlin
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Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 6
Charite Universitaetsmedizin Berlin
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Institute for Human Genetics, University of Wurzburg
Co-authored papers 5
Berlin Institute of Health
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Institute for Translational Epigenetics, University of Cologne
Co-authored papers 4
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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NYS Institute for Basic Research in Developmental Disabilities .
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Radboud University Medical Center
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Taussig Cancer Institute, Cleveland Clinic
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University of Pennsylvania
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Berlin Institute of Health (BIH)
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William Harvey Research Institute, Queen Mary University of London
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Maastricht University Medical Centre
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