| 37468035 | Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease. | J Invest Dermatol | 2024 |
| 37503210 | GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. | medRxiv | 2024 |
| 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study. | Genet Med | 2023 |
| 37441549 | AI-based multi-PRS models outperform classical single-PRS models. | Front Genet | 2023 |
| 37203539 | Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders. | Stud Health Technol Inform | 2023 |
| 37398376 | Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder. | medRxiv | 2023 |
| 36704342 | A statistical boosting framework for polygenic risk scores based on large-scale genotype data. | Front Genet | 2023 |
| 36484420 | Perspectives on the future of dysmorphology. | Am J Med Genet A | 2023 |
| 36726590 | <i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals. | Front Cell Dev Biol | 2023 |
| 34744167 | Combining callers improves the detection of copy number variants from whole-genome sequencing. | Eur J Hum Genet | 2022 |
| 35583903 | Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages. | JAMA Psychiatry | 2022 |
| 35705716 | The GA4GH Phenopacket schema defines a computable representation of clinical data. | Nat Biotechnol | 2022 |
| 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 Adv | 2022 |
| 36589413 | Prioritization 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 Adv | 2022 |
| 35970914 | KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. | Eur J Hum Genet | 2022 |
| 36278975 | [Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis]. | Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz | 2022 |
| 36104871 | Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome. | Hum Mutat | 2022 |
| 35145301 | GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. | Nat Genet | 2022 |
| 32734504 | New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial. | Clin Res Cardiol | 2021 |
| 34693376 | Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms. | Patterns (N Y) | 2021 |
| 34514393 | CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. | NAR Genom Bioinform | 2021 |
| 34159400 | Genome sequencing in families with congenital limb malformations. | Hum Genet | 2021 |
| 34210994 | TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19. | NPJ Genom Med | 2021 |
| 34004033 | Extending the allelic spectrum at noncoding risk loci of orofacial clefting. | Hum Mutat | 2021 |
| 33402532 | A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. | Proc Natl Acad Sci U S A | 2021 |
| 33429424 | DeepCNV: a deep learning approach for authenticating copy number variations. | Brief Bioinform | 2021 |
| 33263726 | Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression. | JAMA Psychiatry | 2021 |
| 32519455 | Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data. | Cytometry A | 2020 |
| 32019583 | Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. | Orphanet J Rare Dis | 2020 |
| 32832215 | Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals. | Transl Vis Sci Technol | 2020 |
| 32725661 | Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. | Clin Genet | 2020 |
| 32282935 | Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. | Br J Dermatol | 2020 |
| 30617323 | Identifying facial phenotypes of genetic disorders using deep learning. | Nat Med | 2019 |
| 31353022 | Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. | Am J Hum Genet | 2019 |
| 31430258 | Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. | J Clin Invest | 2019 |
| 31256876 | Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. | Am J Hum Genet | 2019 |
| 30905398 | The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. | Am J Hum Genet | 2019 |
| 29310717 | Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. | Genome Med | 2018 |
| 30279461 | Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. | Sci Rep | 2018 |
| 29623569 | Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. | J Inherit Metab Dis | 2018 |
| 27565584 | A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data. | Bioinformatics | 2017 |
| 28369036 | Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. | Nat Genet | 2017 |
| 29100093 | De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. | Am J Hum Genet | 2017 |
| 28779001 | Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunction. | J Med Genet | 2017 |
| 28581210 | Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. | Hum Mutat | 2017 |
| 25652421 | Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. | Clin Genet | 2016 |
| 27881174 | Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course. | Pediatr Rheumatol Online J | 2016 |
| 27120253 | Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. | Hum Mutat | 2016 |
| 26833332 | CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. | Am J Hum Genet | 2016 |
| 24916641 | Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. | Eur J Hum Genet | 2015 |