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P. Krawitz · SciRah

Researcher profile · Semantic Scholar

P. Krawitz

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P. Krawitz — researcher profile on SciRah

h-index: 28
Works: 133
Citations: 2,903

Most-cited papers

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke +43 more
2022Nature Genetics185 citations Open access
Semantic Scholar
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
A. Schmidt, M. Danyel, K. Grundmann, T. Brunet +168 more
2024Nature Genetics50 citations Open access
Semantic Scholar
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias
S. Rassmann, A. Keller, Kyra Skaf, Alexander Hustinx +11 more
2023Pediatric Radiology45 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
G. Lyon, M. Vedaie, Travis Beisheim, A. Park +20 more
2023European Journal of Human Genetics44 citations Open access
Semantic Scholar
GANonymization: A GAN-Based Face Anonymization Framework for Preserving Emotional Expressions
Fabio Hellmann, Silvan Mertes, Mohamed Benouis, Alexander Hustinx +4 more
2023ACM Trans. Multim. Comput. Commun. Appl.44 citations Open access
Semantic Scholar
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
N. Pontikos, W. Woof, Si-Ying Lin, Biraja Ghoshal +43 more
2025Nature Machine Intelligence39 citations Open access
Semantic Scholar
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease
F. Uellendahl-Werth, C. Maj, O. Borisov, S. Juzėnas +17 more
2022Communications Biology38 citations Open access
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Role of CAMK2D in neurodevelopment and associated conditions.
Pomme M F Rigter, C. de Konink, Matthew J. Dunn, M. Proietti-Onori +38 more
2024American Journal of Human Genetics34 citations Open access
Semantic Scholar
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +70 more
2023Science Translational Medicine34 citations Open access
Semantic Scholar
Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles
Alexander Hustinx, Fabio Hellmann, Ömer Sümer, B. Javanmardi +3 more
2022IEEE Workshop/Winter Conference on Applications of Computer Vision34 citations Open access
Semantic Scholar
Dissecting the genetic heterogeneity of gastric cancer
T. Hess, C. Maj, J. Gehlen, O. Borisov +130 more
2023EBioMedicine33 citations Open access
Semantic Scholar
Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages.
Dominic Dwyer, M. Buciuman, A. Ruef, J. Kambeitz +47 more
2022JAMA psychiatry32 citations Open access
Semantic Scholar
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
E. Hassanin, I. Spier, D. Bobbili, R. Aldisi +14 more
2022BMC Medical Genomics32 citations Open access
Semantic Scholar
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
Lily Guo, Jiyeon Park, E. Yi, E. Marchi +11 more
2022European Journal of Human Genetics28 citations Open access
Semantic Scholar
Perspectives on the future of dysmorphology
B. Solomon, M. Adam, C. Fong, K. Girisha +7 more
2022American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders
A. Kirchhoff, Alexander Hustinx, B. Javanmardi, Tzung-Chien Hsieh +8 more
2024European Journal of Human Genetics23 citations Open access
Semantic Scholar
Episignature analysis of moderate effects and mosaics
K. Oexle, M. Zech, Lara G. Stühn, Sandy Siegert +19 more
2023European Journal of Human Genetics22 citations Open access
Semantic Scholar
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
M. Aerden, A. Denommé-Pichon, D. Bonneau, A. Bruel +54 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
A. Kampmeier, E. Leitão, I. Parenti, J. Beygo +33 more
2023Frontiers in Cell and Developmental Biology20 citations Open access
Semantic Scholar
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
M. Asif, Emrah Kaygusuz, M. Shinawi, A. Nickelsen +29 more
2022HGG advances20 citations Open access
Semantic Scholar
AI-based multi-PRS models outperform classical single-PRS models
Jan Henric Klau, C. Maj, H. Klinkhammer, P. Krawitz +4 more
2023Frontiers in Genetics19 citations Open access
Semantic Scholar
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
H. Oppermann, Elia Marcos-Grañeda, L. A. Weiss, C. Gurnett +51 more
2023European Journal of Human Genetics19 citations Open access
Semantic Scholar
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
Ariane Schmetz, Hermann-Josef Lüdecke, H. Surowy, Sugirtahn Sivalingam +46 more
2023Human Genetics18 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Da Wu, Zhanliang Wang, Hong-Zhuo Chen, Jingye Yang +11 more
2023arXiv.org14 citations
Semantic Scholar
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
R. Rius, A. Blakes, Yuyang Chen, Joachim De Jonghe +94 more
2025Nature Genetics13 citations Open access
Semantic Scholar
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
L. Averdunk, Maxim A. Huetzen, Daniel Moreno-Andrés, R. Kalb +27 more
2023Genetics in Medicine13 citations Open access
Semantic Scholar
Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
S. Henne, R. Aldisi, S. Sivalingam, L. Hochfeld +5 more
2023Nature Communications13 citations Open access
Semantic Scholar
Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics
Tanviben Patel, Amna A. Othman, Ömer Sümer, Fabio Hellman +12 more
2024Bioinform.12 citations Open access
Semantic Scholar
A statistical boosting framework for polygenic risk scores based on large-scale genotype data
H. Klinkhammer, C. Staerk, C. Maj, P. Krawitz +1 more
2023Frontiers in Genetics12 citations Open access
Semantic Scholar
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
L. Loong, A. Tardivo, A. Knaus, Mona Hashim +40 more
2022Genetics in Medicine12 citations Open access
Semantic Scholar
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C. Y. Mak, H. Klinkhammer, S. Choufani, Nikola Reko +37 more
2025EBioMedicine10 citations Open access
Semantic Scholar
Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background
E. Hassanin, Z. Landoulsi, S. Pachchek, Geeta Acharya +112 more
2025npj Parkinson's Disease10 citations Open access
Semantic Scholar
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores
Tzung-Chien Hsieh, H. Lesmann, P. Krawitz
2023Current Protocols10 citations Open access
Semantic Scholar
Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders
Ömer Sümer, Fabio Hellmann, Alexander Hustinx, Tzung-Chien Hsieh +2 more
2022Medical Informatics Europe10 citations Open access
Semantic Scholar
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, I. Aukrust, Tzung-Chien Hsieh +38 more
2024European Journal of Human Genetics9 citations Open access
Semantic Scholar
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations
Hanna K. Zieger, L. Weinhold, A. Schmidt, M. Holtgrewe +12 more
2022HGG advances9 citations Open access
Semantic Scholar
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
Benjamin D. Solomon, Morgan Cheatham, T. A. D. de Guimaraes, D. Duong +17 more
2025American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
L. Laugwitz, Fubo Cheng, Stephan C. Collins, Alexander Hustinx +40 more
2024Brain : a journal of neurology8 citations Open access
Semantic Scholar
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank
E. Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, R. Aldisi +6 more
2023Frontiers in Genetics8 citations Open access
Semantic Scholar
Computational facial analysis for rare Mendelian disorders
Tzung-Chien Hsieh, P. Krawitz
2023American Journal of Medical Genetics. Part C, Seminars in Medical Genetics8 citations Open access
Semantic Scholar
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant
C. Forwood, Katie Ashton, Ying Zhu, Fu-Tao Zhang +16 more
2023American Journal of Medical Genetics. Part C, Seminars in Medical Genetics8 citations Open access
Semantic Scholar
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, A. Schmidt +10 more
2022Human Mutation8 citations Open access
Semantic Scholar
Extending the allelic spectrum at noncoding risk loci of orofacial clefting
F. Thieme, L. Henschel, N. Hammond, N. Ishorst +20 more
2021Human Mutation8 citations Open access
Semantic Scholar
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
S. Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung-Chien Hsieh +127 more
2024medRxiv7 citations Open access
Semantic Scholar
Statistical learning for sparser fine-mapped polygenic models: the prediction of LDL-cholesterol
C. Maj, C. Staerk, O. Borisov, H. Klinkhammer +3 more
2022bioRxiv7 citations Open access
Semantic Scholar
Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine
R. Aldisi, A. Alsamman, P. Krawitz, C. Maj +1 more
2025Clinical Proteomics6 citations Open access
Semantic Scholar
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, H. Lesmann +66 more
2025American Journal of Human Genetics6 citations Open access
Semantic Scholar
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou +18 more
2024EBioMedicine6 citations Open access
Semantic Scholar

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