Author details

Full Name

Daniel Danis

Affiliation

Biomedical Research Center, Slovak Academy of Sciences

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

Gloria M Sheynkman (CM4AI)

PMID	Paper Title	Journal Title	Published Year
37684057	De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.	Cold Spring Harb Mol Case Stud	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
38001031	Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.	Bioinformatics	2023
37398049	Alternative splicing is coupled to gene expression in a subset of variably expressed genes.	bioRxiv	2023
36910590	GA4GH Phenopackets: A Practical Introduction.	Adv Genet (Hoboken)	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35391505	Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.	Hum Mutat	2022
35484572	SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.	Genome Med	2022
33234331	Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.	Int J Pediatr Otorhinolaryngol	2021
34739835	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
32340307	An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.	Genes (Basel)	2020
32019583	Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.	Orphanet J Rare Dis	2020
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
30642251	GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution.	BMC Genomics	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
31101089	Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.	BMC Med Genet	2019
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
29427836	DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.	Seizure	2018
29715184	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.	Endocr Regul	2018
29687770	Pilot Study of the Occurrence of Somatic Mutations in Ciliary Signalling Pathways as a Contribution Factor to Autosomal Dominant Polycystic Kidney Development.	Folia Biol (Praha)	2017
28242437	Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.	Diabetes Res Clin Pract	2017
27523286	Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.	Eur J Med Genet	2016
12921257	Our experience with surgical treatment of the tumours of peripheral nerves in extremities and brachial plexus.	Acta Chir Plast	2003

1 - 25 of 25

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 11

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 6

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 10

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Career Start Year 2010

Number of shared co-authors 19

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 22

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 24

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 11

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 24

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 8

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 6

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Career Start Year 2007

Number of shared co-authors 5

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 11

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 23

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 6

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 14

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 4

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 2

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 6

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 11

Daniel G MacArthur

Broad Institute of MIT and Harvard

Career Start Year 2003

Number of shared co-authors 19

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 8

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 11

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 34

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 8

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 10

Heidi L Rehm

The Broad Institute of MIT and Harvard

Career Start Year 1996

Number of shared co-authors 41

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 40

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 15

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 23

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 16

row(s) 1 - 30 of 30

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 15

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 11

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 9

Leigh C Carmody

Center for the Science of Therapeutics, Broad Institute of MIT and Harvard

Co-authored papers 9

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 9

Michael Gargano

Co-authored papers 9

Julie A McMurry

University of Colorado - Anschutz Medical Campus

Co-authored papers 8

Melissa A Haendel

Co-authored papers 8

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

Tudor Groza

Perth Children's Hospital

Co-authored papers 7

Nicole Vasilevsky

Critical Path Institute

Co-authored papers 6

Hannah Blau

Co-authored papers 5

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 5

Nomi L Harris

Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University

Co-authored papers 5

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 5

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Co-authored papers 4

Jean-Philippe Gourdine

Oregon Health & Science University

Co-authored papers 3

Marc Hanauer

INSERM

Co-authored papers 3

Michael Baudis

University of Zurich

Co-authored papers 3

Ingo Helbig

Children's Hospital of Philadelphia

Co-authored papers 3

Alex H Wagner

Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis

Co-authored papers 3

Zafer Y??ksel

Kahramanmaras Sutcu Imam University

Co-authored papers 3

Christopher G Chute

Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota

Co-authored papers 3

Jagadish Chandrabose Sundaramurthi

DOE Joint Genome Institute, Lawrence Berkeley National Laboratory

Co-authored papers 3

Justin T Reese

Lawrence Berkeley National Laboratory

Co-authored papers 3

Gareth Baynam

King Edward Memorial Hospital

Co-authored papers 3

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London