D. Danis

发表

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

P. Robinson, Hannah Blau, P. Krawitz, 2020, Orphanet Journal of Rare Diseases.

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Damian Smedley, Julius O. B. Jacobsen, Valentina Cipriani, 2020, Genes.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

M. Skopkova, D. Gašperíková, J. Stanik, 2016, European journal of medical genetics.

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

M. Skopkova, D. Gašperíková, D. Danis, 2019, BMC Medical Genetics.

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2022, Genome medicine.

The impact of biological sex on alternative splicing

Tudor I. Oprea, Xingmin Aaron Zhang, Jeremy J. Yang, 2018, bioRxiv.

Evaluation of protein expression and DNA methylation profiles detected by pyrosequencing in invasive breast cancer.

D. Danis, M. Mego, B. Smolková, 2013, Neoplasma.

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

Guy Karlebach, P. Robinson, Olga Anczuków, 2020, Genome Biology.

Accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

Peter N. Robinson, Guy Karlebach, P. Robinson, 2019, bioRxiv.

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2022, Human mutation.

Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

M. Skopkova, D. Gašperíková, D. Danis, 2020, International journal of pediatric otorhinolaryngology.

The Human Phenotype Ontology in 2021

Christopher G Chute, Damian Smedley, Yongqun He, 2020, Nucleic Acids Res..

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants

Giuliano Grossi, Marco Mesiti, Alessandro Petrini, 2020, bioRxiv.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

1-14-2019 GOPHER : Generator Of Probes for capture HiC Experiments at high Resolution

P. Robinson, S. Mundlos, Hannah Blau, 2019 .

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

P. Robinson, S. Mundlos, Hannah Blau, 2019, BMC Genomics.

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

Julius O. B. Jacobsen, Michael A. Gargano, J. Beckmann, 2021, medRxiv.

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2021, Genome Medicine.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.

Damian Smedley, Julius O. B. Jacobsen, Xingmin Aaron Zhang, 2020, American journal of human genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Julius O. B. Jacobsen, Michael A. Gargano, Peter N. Robinson, 2021, bioRxiv.

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Tudor Groza, Damian Smedley, Peter N. Robinson, 2019, Current protocols in human genetics.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

M. Skopkova, M. Rosoľanková, D. Gašperíková, 2017, Diabetes research and clinical practice.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

GA4GH Phenopackets: A Practical Introduction

Julius O. B. Jacobsen, Michael A. Gargano, O. Elemento, 2022, Advanced genetics.

The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen, Orion J. Buske, Michael A. Gargano, 2022, Nature Biotechnology.

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

Daniel J. Vreeman, Christopher G. Chute, Clement J. McDonald, 2019, bioRxiv.

Phenopacket-tools: Building and validating GA4GH Phenopackets

Julius O. B. Jacobsen, C. Mungall, T. Groza, 2023, PLoS ONE.

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Endocrine regulations.

On the limitations of large language models in clinical diagnosis

C. Mungall, G. Valentini, E. Casiraghi, 2023, medRxiv.

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

Gloria M. Sheynkman, Guy Karlebach, D. Seelow, 2023, bioRxiv.

DNM1 encephalopathy − atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Seizure.

Predicting the impact of rare variants on RNA splicing in CAGI6

Stephen M. Mount, P. Radivojac, O. Lichtarge, 2023, bioRxiv.

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

Guy Karlebach, Olga Anczuków, D. Danis, 2020, Genome Biology.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

Gloria M. Sheynkman, Guy Karlebach, D. Seelow, 2023, bioRxiv.

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

Gloria M. Sheynkman, Guy Karlebach, D. Seelow, 2023, bioRxiv.

The Human Phenotype Ontology in 2024: phenotypes around the world

Benjamin M. Gyori, Julius O. B. Jacobsen, Janice M. Fullerton, 2023, Nucleic acids research.

Data and text mining Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

T. Groza, D. Danis, Marcel E. Dinger, 2022 .