S. Price

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

R. Trembath, M. Preece, S. Price, 1999, Journal of medical genetics.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Epigenotype–phenotype correlations in Silver–Russell syndrome

I. Temple, S Kumar, D. Mackay, 2010, Journal of Medical Genetics.

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

M. Roberts, F. Muntoni, R. Horvath, 2012, Journal of Neurology.

Epigenotype e phenotype correlations in Silver e Russell syndrome

T. Tangeraas, M. Alders, S. Price, 2022 .

Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?

J. McGowan-Jordan, S. Venkateswaran, B. Bernhard, 2017, American journal of medical genetics. Part A.

Ultrasound in anaesthesia and intensive care: a guide to training

J. Sloan, S. Price, J. Pilcher, 2011 .

Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

L. Tee, E. Maher, T. Barrett, 2013, Journal of Medical Genetics.

Milder phenotypes of glucose transporter type 1 deficiency syndrome

I. Scheffer, H. Scheffer, Z. Zaiwalla, 2011, Developmental medicine and child neurology.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J Sharp, Edward Blair, Stuart Schwartz, 2006, Nature Genetics.

Clinical and radiological findings in Schinzel–Giedion syndrome

W. Reardon, C. Hall, S. Price, 2008, European Journal of Pediatrics.

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.

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.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

J. Clayton-Smith, P. Stanier, D. Monk, 2002, Human Genetics.

Maternal uniparental disomy 7 in Silver-Russell syndrome.

R. Trembath, P. Stanier, M. Preece, 1997, Journal of medical genetics.

Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals

A. Green, M. Parker, B. Castle, 2018, American journal of medical genetics. Part A.

Characterization of a recurrent 15q24 microdeletion syndrome.

B. D. de Vries, E. Eichler, R. Regan, 2007, Human molecular genetics.

Genetics of Silver-Russell Syndrome

R. Trembath, M. Preece, P. Stanier, 1998, Hormone Research in Paediatrics.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

T. Hortobágyi, F. Baas, E. Aronica, 2014, Orphanet Journal of Rare Diseases.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

P. Prabhakar, S. Price, G. Quaghebeur, 2013, Archives of Disease in Childhood.

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.