N. Shannon

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

University of Dundee Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes Deciphering Developmental Disorders ( DDD ) Study

D. Baralle, J. Clayton-Smith, S. Holder, 2019 .

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.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

P. Pandya, L. Chitty, N. Shannon, 2022, Prenatal diagnosis.

Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease

D. Milewicz, M. Sweeting, F. Lai, 2020, Trials.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Z. Niu, M. Shinawi, R. Schnur, 2015, Journal of Medical Genetics.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Severe neonatal manifestations of Costello syndrome

B. Kerr, S. Lam, C. Brewer, 2007, Journal of Medical Genetics.

An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

A. Rigby, E. Maltby, N. Shannon, 2001, Journal of medical genetics.

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

N. Rahman, H. Firth, J. Tolmie, 2004, Nature Genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

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 .

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

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

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

D. Baralle, J. Clayton-Smith, S. Holder, 2019, Archives of Disease in Childhood.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Costello syndrome: two cases with embryonal rhabdomyosarcoma.

B. Kerr, N. Shannon, O. Eden, 1998, Journal of medical genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human 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.

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

M. Botella, N. Shannon, P. Vasudevan, 2005, Clinical dysmorphology.

Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study

F. Lai, G. Mariscalco, N. Shannon, 2022, Journal of the American Heart Association.

Novel dermatological manifestations of Mowat–Wilson syndrome including photosensitivity and dyspigmentation

N. Shannon, S. Taibjee, A. Abdullah, 2010, Archives of Disease in Childhood.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

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.

Prenatal diagnosis to exclude FAP in a high risk pregnancy

N. Shannon, M. Johnson, J. Cook, 1998, Prenatal diagnosis.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.