List of works - Melita Irving

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

scientific article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

scientific article

De novo mutations in MLL cause Wiedemann-Steiner syndrome

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Evidence for a TCR affinity threshold delimiting maximal CD8 T cell function.

scientific article published on 29 March 2010

Consensus guidelines for the use and interpretation of angiogenesis assays

article

Targeting the tumor vasculature to enhance T cell activity

scientific article

Interplay between T Cell Receptor Binding Kinetics and the Level of Cognate Peptide Presented by Major Histocompatibility Complexes Governs CD8+ T Cell Responsiveness

scientific article published on June 29, 2012

Structure of a high-affinity "mimotope" peptide bound to HIV-1-neutralizing antibody b12 explains its inability to elicit gp120 cross-reactive antibodies

scientific article

T cells bearing a chimeric antigen receptor against prostate-specific membrane antigen mediate vascular disruption and result in tumor regression.

scientific article

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

scientific article published on September 2008

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

scientific article published on 29 June 2011

Engineering Chimeric Antigen Receptor T-Cells for Racing in Solid Tumors: Don't Forget the Fuel

scientific article

Structure-Based, Rational Design of T Cell Receptors

scientific article published on September 12, 2013

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

scientific article published on 3 December 2010

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

scientific article published on December 1, 2003

Chondrodysplasia punctata: a clinical diagnostic and radiological review

scientific article published on October 2008

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

scientific article

Exploring peptide mimics for the production of antibodies against discontinuous protein epitopes

scientific article

Clinical and genetic aspects of KBG syndrome.

scientific article

TCRep 3D: an automated in silico approach to study the structural properties of TCR repertoires

scientific article

Reversible major histocompatibility complex I-peptide multimers containing Ni(2+)-nitrilotriacetic acid peptides and histidine tags improve analysis and sorting of CD8(+) T cells

scientific article published on 11 October 2011

Cooperation between Constitutive and Inducible Chemokines Enables T Cell Engraftment and Immune Attack in Solid Tumors

scientific article published on 01 June 2019

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

In-Vivo Detection and Tracking of T Cells in Various Organs in a Melanoma Tumor Model by 19F-Fluorine MRS/MRI.

scientific article

1,2,3-Triazoles as inhibitors of indoleamine 2,3-dioxygenase 2 (IDO2)

scientific article published on 16 July 2016

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

scientific article

CART cells are prone to Fas- and DR5-mediated cell death

scientific article published on 13 July 2018

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

scientific article published on April 22, 2014

Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice

scientific article published in August 2004

Neonatal teeth in X-linked Opitz (G/BBB) syndrome

scientific article published on 01 July 2006

Clinical utility gene card for: 3-M syndrome - update 2013.

scientific article

Best practices in peri-operative management of patients with skeletal dysplasias

scientific article published on 01 August 2017

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

scientific article published on 07 February 2013

Correction to: CART cells are prone to Fas- and DR5-mediated cell death

scientific article published on 25 September 2018

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

scientific article published on 18 December 2016

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

The T-Cell Receptor Can Bind to the Peptide-Bound Major Histocompatibility Complex and Uncomplexed β2-Microglobulin through Distinct Binding Sites.

scientific article

A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

scientific article published on 03 February 2020

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

scientific article

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

scientific article published in June 2016

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

scientific article published on 4 April 2018

All systems go: converging synthetic biology and combinatorial treatment for CAR-T cell therapy

scientific article published on 25 February 2020

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply

scientific article published on 01 September 2019

Author Correction: A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

scientific article published on 01 April 2020

miR-155 Overexpression in OT-1 CD8+ T Cells Improves Anti-Tumor Activity against Low-Affinity Tumor Antigen

scientific article published on 25 December 2019

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

scientific article published on 11 April 2019

Clinical utility gene card for: 3M syndrome

scientific article published on 02 March 2011

Sensitive identification of neoantigens and cognate TCRs in human solid tumors

scientific article published on 15 November 2021

List of works by Melita Irving

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

De novo mutations in MLL cause Wiedemann-Steiner syndrome

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Evidence for a TCR affinity threshold delimiting maximal CD8 T cell function.

Consensus guidelines for the use and interpretation of angiogenesis assays

Targeting the tumor vasculature to enhance T cell activity

Interplay between T Cell Receptor Binding Kinetics and the Level of Cognate Peptide Presented by Major Histocompatibility Complexes Governs CD8+ T Cell Responsiveness

Structure of a high-affinity "mimotope" peptide bound to HIV-1-neutralizing antibody b12 explains its inability to elicit gp120 cross-reactive antibodies

T cells bearing a chimeric antigen receptor against prostate-specific membrane antigen mediate vascular disruption and result in tumor regression.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

Engineering Chimeric Antigen Receptor T-Cells for Racing in Solid Tumors: Don't Forget the Fuel

Structure-Based, Rational Design of T Cell Receptors

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

Chondrodysplasia punctata: a clinical diagnostic and radiological review

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

Exploring peptide mimics for the production of antibodies against discontinuous protein epitopes

Clinical and genetic aspects of KBG syndrome.

TCRep 3D: an automated in silico approach to study the structural properties of TCR repertoires

Reversible major histocompatibility complex I-peptide multimers containing Ni(2+)-nitrilotriacetic acid peptides and histidine tags improve analysis and sorting of CD8(+) T cells

Cooperation between Constitutive and Inducible Chemokines Enables T Cell Engraftment and Immune Attack in Solid Tumors

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

In-Vivo Detection and Tracking of T Cells in Various Organs in a Melanoma Tumor Model by 19F-Fluorine MRS/MRI.

1,2,3-Triazoles as inhibitors of indoleamine 2,3-dioxygenase 2 (IDO2)

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

CART cells are prone to Fas- and DR5-mediated cell death

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice

Neonatal teeth in X-linked Opitz (G/BBB) syndrome

Clinical utility gene card for: 3-M syndrome - update 2013.

Best practices in peri-operative management of patients with skeletal dysplasias

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

Correction to: CART cells are prone to Fas- and DR5-mediated cell death

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The T-Cell Receptor Can Bind to the Peptide-Bound Major Histocompatibility Complex and Uncomplexed β2-Microglobulin through Distinct Binding Sites.

A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

All systems go: converging synthetic biology and combinatorial treatment for CAR-T cell therapy

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply

Author Correction: A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

miR-155 Overexpression in OT-1 CD8+ T Cells Improves Anti-Tumor Activity against Low-Affinity Tumor Antigen

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

Clinical utility gene card for: 3M syndrome

Sensitive identification of neoantigens and cognate TCRs in human solid tumors