Recent publications
2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Sivan Reytan Miron, Alina Kurolap, Bassam Abu‐Libdeh, Abdel Salam Abu-Libdeh, Clara Velmans, et al.
Journal of Medical Genetics
Download/Link ↗HYPK ‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, et al.
Clinical Genetics
Download/Link ↗Accurate and Private Diagnosis of Rare Genetic Syndromes from Facial Images with Federated Deep Learning
Ali Burak Ünal, Cem Ata Baykara, Peter Krawitz, Mete Akgün
arXiv (Cornell University)
Download/Link ↗Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals
Behnam Javanmardi, Rebekah L. Waikel, Tinatin Tkemaladze, Shahida Moosa, Alexander Küsshauer, et al.
Orphanet Journal of Rare Diseases
Download/Link ↗Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, et al.
EBioMedicine
Download/Link ↗Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, et al.
Nature Genetics
Download/Link ↗Author response for "HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features"
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, et al.
nan
Download/Link ↗Automated Segmentation and Length Measurement of Metacarpal and Phalangeal Bones for Hand Radiograph Evaluation
Philip Gutberlet, Aron Kirchhoff, Eike Bolmer, Philipp Schmidt, Fabio Hellmann, et al.
nan
Download/Link ↗Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
Emily E. Lubin, Elizabeth M. Gonzalez, Annabel K. Sangree, Emily L. Durham, Hannah Klinkhammer, et al.
Human Genetics and Genomics Advances
Download/Link ↗Deeplasia: a novel tool for the assessment of bone age in skeletal dysplasia
Alexandra Keller, Behnam Javanmardi, Maesa Al-Hallak, Daniela Avdjieva, Pozza Susanne Bechtold-Dalla, et al.
Endocrine Abstracts
Download/Link ↗Differential effects of Nordic and Vegetarian diets on lipid metabolism, gut microbiome and cardiometabolic risk factors: A multi-omic perspective from a randomized clinical intervention trial
Hanna Huber, Alina Schieren, A.C.D. Donkers, Aakash Mantri, Waldemar Seel, et al.
nan
Download/Link ↗Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans
Fabian Brand, Hannah Klinkhammer, Alexej Knaus, Manuel Holtgrewe, Leonie Weinhold, et al.
Scientific Reports
Download/Link ↗GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders
Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung‐Chien Hsieh, Fabian Brand, et al.
European Journal of Human Genetics
Download/Link ↗Houge-Janssens syndrome
Gunnar Houge, Sofia Douzgou, Tzung‐Chien Hsieh, Iris Verbinnen, Veerle Janssens
European Journal of Human Genetics
Download/Link ↗Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine
Rana Aldisi, Alsamman M. Alsamman, Peter Krawitz, Carlo Maj, Hatem Zayed
Clinical Proteomics
Download/Link ↗Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, et al.
Nature Communications
Download/Link ↗Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
Tzung‐Chien Hsieh, D. Todd, Taylor Warner, Kayla Blankenship, Dimah Saade, et al.
nan
Download/Link ↗Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William Woof, Siying Lin, Biraja Ghoshal, Bernardo Mendes, et al.
Nature Machine Intelligence
Download/Link ↗P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis
Tzung‐Chien Hsieh, Shriya Jaddu, Hannah Weiland, Merle ten Hagen, Jingmei Li, et al.
Genetics in Medicine Open
Download/Link ↗P797: SATB2 variants in Glass syndrome: The clinical impact of novel variants in the context of misleading diagnoses
Miles Thompson, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Peter Krawitz, et al.
Genetics in Medicine Open
Download/Link ↗PIGC-related encephalopathy: Lessons learned from 18 new probands
Allan Bayat, Maria Carla Borroto, Smrithi Salian, Maha S. Zaki, Hind Benkerroum, et al.
European Journal of Human Genetics
Download/Link ↗Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou, Tzung‐Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, et al.
The American Journal of Human Genetics
Download/Link ↗Penetrance of Parkinson's disease in GBA1 carriers depends on the variant severity and polygenic background
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, Peter Krawitz, Carlo Maj, et al.
nan
Download/Link ↗Penetrance of Parkinson’s disease in GBA1 carriers is depending on the variant severity and polygenic background
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, Peter Krawitz, Carlo Maj, et al.
nan
Download/Link ↗Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, Peter Krawitz, Carlo Maj, et al.
npj Parkinson s Disease
Download/Link ↗Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa Haendel, et al.
American Journal of Medical Genetics Part A
Download/Link ↗Population-specific calibration and validation of an open-source bone age AI
Sebastian Rassmann, Luka Abashishvili, Elene Melikidze, Anastasia Sukhiashvili, Megi Lartsuliani, et al.
Scientific Reports
Download/Link ↗Role of CAMK2D in neurodevelopment and associated conditions
Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, et al.
The American Journal of Human Genetics
Download/Link ↗Schneller zur genetischen Diagnose bei Kindern mit auffälliger Fazies durch künstliche Intelligenz
Peter Krawitz, Adele Ruder, Tim Niehues
Monatsschrift Kinderheilkunde
Download/Link ↗Self-explaining Artificial Intelligence for the Classification of B cell Non-Hodgkin Lymphoma
Michael C. Thrun, Joerg Hoffmann, Stefan W. Krause, Peter Krawitz, Quirin Stier, et al.
nan
Download/Link ↗Stellar tidal streams around nearby spiral galaxies with deep imaging from amateur telescopes
David Martínez‐Delgado, Michael Stein, J. D. Sakowska, Matthias Weigelt, Javier Román, et al.
Astronomy and Astrophysics
Download/Link ↗Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
Katarína Kušíková, Tzung‐Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, et al.
Frontiers in Genetics
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