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List of works by Peter Robinson

A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation ⬇️

scientific article published on December 1, 2013

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

scientific article published on 25 August 2016

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

scientific article

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis

scientific article published on February 2006

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

scientific article

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

scientific article

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

scientific article published on 03 October 2012

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

scientific article

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

scientific article

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

scientific article

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter

scientific article

A simple clinical model to estimate the probability of Marfan syndrome

article

A systematic, large-scale comparison of transcription factor binding site models

scientific article

Alternate-locus aware variant calling in whole genome sequencing

scientific article published on 13 December 2016

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

scientific article published on 23 April 2020

An expanded evaluation of protein function prediction methods shows an improvement in accuracy ⬇️

scientific article

An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology

scientific article published on 24 January 2019

An open source knowledge graph ecosystem for the life sciences

scientific article published in 2024

Analysis of Strengths, Weaknesses, Opportunities, and Threats as a Tool for Translating Evidence into Individualized Medical Strategies (I-SWOT).

scientific article published on June 2015

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

scientific article published on 5 October 2011

Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice

scientific article published on 24 October 2012

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene

scientific article published on March 1, 2012

Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease

scientific article published on 30 July 2011

Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences

scientific article published on 01 December 2019

Association of post-COVID phenotypic manifestations with new-onset psychiatric disease

scientific article published in 2024

Augmentation index and the evolution of aortic disease in marfan-like syndromes.

scientific article

Augmentation index relates to progression of aortic disease in adults with Marfan syndrome.

scientific article published on 2 July 2009

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

scientific article

Bayesian ontology querying for accurate and noise-tolerant semantic searches

scientific article published on 26 July 2012

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

scientific article

Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancer

scientific article

Bioinformatics for Human Genetics: Promises and Challenges ⬇️

scientific article published on May 1, 2011

Biometric and structural ocular manifestations of Marfan syndrome

scientific article published on 20 September 2017

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis

scientific article published in June 1998

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

scientific article

Calcium-dependent self-association of the C-type lectin domain of versican

scientific article

Call for participation in the neurogenetics consortium within the Human Variome Project

scientific article published in June 2011

Capturing domain knowledge from multiple sources: the rare bone disorders use case

scientific article published on 17 April 2015

Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010

Characterizing Long COVID: Deep Phenotype of a Complex Condition

scientific article published on 25 November 2021

Classification, Ontology, and Precision Medicine

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

scientific article

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

Clinical interpretation of CNVs with cross-species phenotype data

scientific article

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

scientific article

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

scientific article published on 28 October 2015

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

scientific article published on 20 March 2000

Competitive sports and the progression of spondylolisthesis

scientific article

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

scientific article

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

scientific article published on 23 September 2013

Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data

scientific article published on 18 July 2019

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

scientific article published on February 2013

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

scientific article published on 29 February 2008

Crowdsourced direct-to-consumer genomic analysis of a family quartet

scientific article

Deep phenotyping for precision medicine

scientific article published on May 2012

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

scientific article

Deletions of chromosomal regulatory boundaries are associated with congenital disease

scientific article

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

scientific article

Diagnosis and management of Marfan syndrome

scientific article published on January 2008

Diagnostics in human genetics : Integration of phenotypic and genomic data

scientific article

Different release of cytokines into the cerebrospinal fluid following surgery for intra- and extra-axial brain tumours

scientific article

Dorsal instrumentation for idiopathic adolescent thoracic scoliosis: rod rotation versus translation.

scientific article published on January 1999

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

scientific article published on 06 March 2013

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

scientific article

E2F6 initiates stable epigenetic silencing of germline genes during embryonic development

scientific article published on 11 June 2021

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

scientific article

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

scientific article

Entity/quality-based logical definitions for the human skeletal phenome using PATO

scientific article

Erratum to: A systematic, large-scale comparison of transcription factor binding site models

scientific article published on 20 July 2016

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

scientific article

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

scientific article

Estimating heritability and genetic correlations from large health datasets in the absence of genetic data

scientific article published on 03 December 2019

Exact score distribution computation for ontological similarity searches.

scientific article

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

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Extradural anaesthesia for caesarean section in a patient with syringomyelia and Chiari type I anomaly ⬇️

scientific article published on April 1, 1998

FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

scientific article published on 22 November 2012

Faculty of 1000 evaluation for Whole-genome haplotyping using long reads and statistical methods

post-publication peer review published in 2014

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

scientific article (publication date: 2013)

Finding our way through phenotypes

scientific article

Frequency and Age-Related Course of Mitral Valve Dysfunction in the Marfan Syndrome ⬇️

scientific article published on October 1, 2010

Frequency of sleep apnea in adults with the Marfan syndrome

scientific article

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

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

scientific article published on 14 January 2019

GOing Bayesian: model-based gene set analysis of genome-scale data

scientific article

GRAPE for fast and scalable graph processing and random-walk-based embedding

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

scientific article published on 5 July 2006

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis

scientific article published on 14 July 2004

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

scientific article

Genomic data sharing for translational research and diagnostics

scientific article

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

scientific article

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

scientific article published on 13 July 2020

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

scientific article

HotSwap for bioinformatics: a STRAP tutorial

scientific article

Human genotype-phenotype databases: aims, challenges and opportunities

scientific article

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

scientific article published on 9 April 2015

IMSEQ--a fast and error aware approach to immunogenetic sequence analysis

scientific article published on 18 May 2015

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

scientific article

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

scientific article

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

scientific article

Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis

scientific article published on 11 September 2007

Improved exome prioritization of disease genes through cross-species phenotype comparison

scientific article

Improving ontologies by automatic reasoning and evaluation of logical definitions

scientific article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice

scientific article

Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein

scientific article

Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment

scientific article published on 9 October 2006

Integrating the human phenotype ontology into HeTOP terminology-ontology server

scientific article published on January 2013

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

scientific article published on 24 November 2010

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

scientific article published on 29 July 2020

Jannovar: a java library for exome annotation

scientific article

KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response

scientific article published on 01 October 2020

KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response

scientific article published on 18 August 2020

KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response

scientific article published on 9 November 2020

KG-Hub -- Building and Exchanging Biological Knowledge Graphs

preprint published in 2023

KG-Hub—building and exchanging biological knowledge graphs

scientific article published in 2023

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

scientific article

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

scientific article published on 29 October 2017

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

scientific article published on 25 February 2013

Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

scientific article published on February 2010

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene

scientific article published in November 2010

Marfan syndrome: an update of genetics, medical and surgical management

scientific article

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy

scientific article

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

scientific article published on 6 January 2012

MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling

scientific article published on May 2015

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

scientific article

Microindel detection in short-read sequence data

scientific article

Minimum Information about a Genotyping Experiment (MIGEN).

scientific article

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

scientific article published on September 2011

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

scientific article

Model-based gene set analysis for Bioconductor ⬇️

scientific article published on 10 May 2011

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

scientific article published on 05 May 2021

Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project

scientific article published on 16 September 2020

Mondo: Unifying diseases for the world, by the world

MouseFinder: Candidate disease genes from mouse phenotype data

scientific article

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

scientific article published on 16 January 2014

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

scientific article

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

scientific article (publication date: September 2002)

NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study

scientific article published on 15 May 2022

NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome

scientific article published on 18 May 2016

Navigating the Phenotype Frontier: The Monarch Initiative

scientific article

Navigating the phenotype frontier: The Monarch Initiative

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

scientific article

Neurofibromin (Nf1) is required for skeletal muscle development

scientific article

New evidence for a mutation hotspot in exon 37 of the NF1 gene

scientific article published on 01 January 1997

Next-generation diagnostics and disease-gene discovery with the Exomiser

scientific article

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

article

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

scientific article

Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations

scientific article

Ocular manifestations and surgical results in patients with Marfan syndrome

scientific article published in September 2006

Ontological phenotype standards for neurogenetics

scientific article

Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration

scientific article

Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology

scientific article

Ontologizing health systems data at scale: making translational discovery a reality

scientific article published in 2023

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

scientific article published on April 2013

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

scientific article published on 01 May 2009

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

scientific article published on 9 May 2013

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

scientific article

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

scientific article

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

scientific article

Phenotype ontologies and cross-species analysis for translational research

scientific article

Phenotype-aware prioritisation of rare Mendelian disease variants

scientific article published in 2022

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

scientific article

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

scientific article published on 25 October 2012

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

scientific article published on 7 February 2012

Plain-language medical vocabulary for precision diagnosis

scientific article published in April 2018

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

scientific article published on 12 October 2017

Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome

scientific article published in January 2011

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

scientific article published in 2022

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

article

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts

scientific article

Pseudoautosomal region 1 length polymorphism in the human population

scientific article

Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus

scientific article

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity

scientific article published on 23 November 2010

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis

scientific article

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

scientific article

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome

scientific article published on 23 October 2004

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

scientific article published on 27 April 2016

Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype

scientific article published on March 2015

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

scientific article

Regulation of fibrillin-1 gene expression by Sp1.

scientific article published on 13 July 2013

Saturation analysis of ChIP-seq data for reproducible identification of binding peaks

scientific article

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

scientific article

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

article

Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts.

scientific article published on 4 August 2009

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis

scientific article published in June 2005

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

scientific article published on 04 February 2020

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

scientific article

Species-specific detection of Legionella using polymerase chain reaction and reverse dot-blotting

scientific article published in July 1996

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

scientific article

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

scientific article published on 6 August 2015

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning

scientific article published on 21 February 2024

Summarizing phenotype evolution patterns from report cases

scientific article published on 20 October 2012

Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer

scientific article published on 08 December 2021

Surgical therapy of hemivertebrae scoliosis and kyphosis--a retrospective analysis of 53 cases

scientific article published in May 2000

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

scientific article published on 28 April 2022

TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.

scientific article published on 10 September 2013

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

scientific article published in September 2002

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

scientific article published on 19 April 2022

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Human Phenotype Ontology in 2021

scientific article published on 02 December 2020

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

scientific article

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

scientific article published in March 2010

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

scientific article published on 01 January 2020

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

scientific article

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

scientific article

The digital revolution in phenotyping

scientific article published on 29 September 2015

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

scientific article

The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences

scientific article published in January 2008

The genomic birthday paradox: how much is enough?

scientific article published on 2 August 2015

The human phenotype ontology.

scientific article

The influence of disease categories on gene candidate predictions from model organism phenotypes

scientific article

The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

scientific article

The molecular genetics of Marfan syndrome and related disorders

scientific article

The new Ghent criteria for Marfan syndrome: what do they change?

scientific article

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

scientific article published on 01 December 2008

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

scientific article published in October 1996

Tissue Doppler imaging identifies myocardial dysfunction in adults with marfan syndrome

scientific article published on 01 January 2007

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

article

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

article

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

Use of model organism and disease databases to support matchmaking for human disease gene discovery

scientific article

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

scientific article

Walking the interactome for prioritization of candidate disease genes

scientific article published on 27 March 2008

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation ⬇️

scientific article published on December 21, 2010

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.

scientific article published on 20 December 2012

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