Moira Blyth

发表

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

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.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

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

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

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Minna Männikkö, David Curtis, Peter Holmans, 2016, Nature Neuroscience.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Large-scale discovery of novel genetic causes of developmental disorders

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

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

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

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

J. Marsh, G. Damante, A. Kriegsheim, 2022, PloS one.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

J. Danesh, M. Daly, M. Hurles, 2016, bioRxiv.

Enhancing inclusion of diverse populations in genomics: A competence framework

E. Tonkin, M. Blyth, E. Sheridan, 2020, Journal of genetic counseling.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Severe Marfan syndrome due to FBN1 exon deletions

M. Blyth, N. Foulds, C. Turner, 2008, American journal of medical genetics. Part A.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Michael F. Wangler, C. Cytrynbaum, R. Weksberg, 2023, American journal of human genetics.

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.

Mitchell W Dillon, V. Hartill, D. Warren, 2017, Clinical dysmorphology.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

S. Mehta, E. Tobias, R. Newbury-Ecob, 2019, European journal of medical genetics.

Severe staphylococcal scalded skin syndrome in children.

C. Estela, M. Blyth, A. Young, 2008, Burns : journal of the International Society for Burn Injuries.

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.