L. Robert

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Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.

L. Mestroni, E. Ashley, G. Barbati, 2022, JAMA cardiology.

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

E. Arbustini, J. Timmermans, B. Mulder, 2019, Orphanet Journal of Rare Diseases.

Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and erythrocyte morphology

M. Cule, E. Sorokin, Julie Dee Bell, 2022 .

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

A. F. Scott, D. Milewicz, H. Dietz, 2018, Journal of the American College of Cardiology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

A. Pini, G. Jondeau, A. Paglialonga, 2021, Orphanet Journal of Rare Diseases.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

F. Muntoni, N. Dlamini, A. King, 2015, Neuromuscular Disorders.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

P. Byers, X. Jeunemaître, J. Belmont, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).

M. Kempers, A. Baas, B. Loeys, 2022, European journal of medical genetics.

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

M. Kempers, B. V. van Engelen, B. Hamel, 2017, Clinical genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

R. Pyeritz, S. Morris, E. Neptune, 2019, Expert review of cardiovascular therapy.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

J. Thornton, R. Laskowski, Alison M. Male, 2017, Human molecular genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Matthew J. Daniels, Sri V. V. Deevi, M. Farrall, 2018, Genetics in Medicine.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

P. Lambiase, G. Carr-White, V. Plagnol, 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Matthew J. Daniels, Sri V. V. Deevi, M. Farrall, 2018, Genetics in Medicine.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Vascular manifestations of syndromic aortopathies: role of current and emerging imaging techniques.

A. Shaw, K. Katsanos, C. Kiesewetter, 2015, Clinical radiology.