Peter Krawitz

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 2%percentile

2.6Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Papers

Driven by 26 papers — median percentile 78. Top paper: “The GA4GH Phenopacket schema defines a computable representation of clinical data”.

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

medRxiv(2021)10.1101/2021.11.27.21266944

N/A

0.631DataRank · unranked

14 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan +42 more

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100166

N/A

0.344DataRank · unranked

7 citations

Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan Juranek, Anna Siewert +11 more

Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages

JAMA Psychiatry(2022)10.1001/jamapsychiatry.2022.1163

N/A

0DataRank · unranked

33 citations

Madalina-Octavia Buciuman, Anne Ruef, Joseph Kambeitz, Mark Sen Dong, Caedyn L. Stinson +94 more

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

European Journal of Human Genetics(2022)10.1038/s41431-022-01171-1

N/A

0DataRank · unranked

31 citations

Jiyeon Park, Edward Yi, Elaine Marchi, Tzung‐Chien Hsieh, Yana Kibalnyk +10 more

Perspectives on the future of dysmorphology

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63060

N/A

0DataRank · unranked

26 citations

Margaret P Adam, Chin‐To Fong, Katta M. Girisha, Judith G. Hall, Anna Hurst +6 more

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007

N/A

0DataRank · unranked

11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

Expanding the Phenotypic spectrum of NAA10 -related neurodevelopmental syndrome and NAA15 -related neurodevelopmental syndrome

medRxiv(2022)10.1101/2022.08.22.22279061

N/A

0DataRank · unranked

7 citations

Marall Vedaie, Travis Besheim, Agnes Park, Elaine Marchi, Leah Gottlieb +19 more

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

European Journal of Human Genetics(2023)10.1038/s41431-023-01368-y

N/A

0DataRank · unranked

52 citations

Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb +19 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer”

EBioMedicine(2023)10.1016/j.ebiom.2023.104709

N/A

0DataRank · unranked

1 citations

Carlo Maj, Jan Gehlen, Oleg Borisov, Stephan Haas, Ines Gockel +95 more

Human and computer attention in assessing genetic conditions

medRxiv(2023)10.1101/2023.07.26.23293119

N/A

0DataRank · unranked

1 citations

Anna Rose Johny, Suzanna Ledgister Hanchard, Chris Fortney, Fabio Hellmann, Ping Hu +12 more

Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics

Bioinformatics(2024)10.1093/bioinformatics/btae239

N/A

0DataRank · unranked

13 citations

Amna A. Othman, Ömer Sümer, Fabio Hellman, Peter Krawitz, Elisabeth André +11 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Comparison of clinical geneticist and computer visual attention in assessing genetic conditions

PLoS Genetics(2024)10.1371/journal.pgen.1011168

N/A

0DataRank · unranked

6 citations

Anna Rose Johny, Suzanna Ledgister Hanchard, Christopher Fortney, Kendall A. Flaharty, Fabio Hellmann +14 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

N/A

0DataRank · unranked

6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Nature Machine Intelligence(2025)10.1038/s42256-025-01040-8

N/A

0DataRank · unranked

23 citations

William Woof, Siying Lin, Biraja Ghoshal, Bernardo Mendes, Yoga Advaith Veturi +42 more

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

The American Journal of Human Genetics(2026)10.1016/j.ajhg.2025.12.007

N/A

0DataRank · unranked

0 citations

Andrew Thom, Andreas Rump, Johannes N. Greve, Juan Cadiñanos, Rocco Salvatore Calabrò +46 more

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

N/A

0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)

Human Genomics(2026)10.1186/s40246-025-00904-9

N/A

0DataRank · unranked

0 citations

T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L. Kilarski, Heidi Altmann +45 more

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-1313-0

N/A

0DataRank · unranked

34 citations

Hannah Blau, Daniel Daniš, Xingman A. Zhang, Jean-Philippe F. Gourdine, Nicole A. Vasilevsky +4 more

Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma

Gastroenterology(2020)10.1053/j.gastro.2020.08.052

N/A

0DataRank · unranked

26 citations

Carlo Maj, Spiridon Tsavachidis, Quinn T. Ostrom, Puya Gharahkhani, Lesley A. Anderson +38 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

N/A

0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

Peter Krawitz

Indexed papers

Top data-sharing exemplar

Papers