S. Tomkins

发表

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

J. Maynard, J. Cheadle, A. C. Jones, 1999, American journal of human genetics.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Soo-Mi Park, M. Tran, S. Tomkins, 2017, The Journal of clinical endocrinology and metabolism.

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

R. Whitehouse, R. Eeles, F. Gilbert, 2017, Familial Cancer.

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 .

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

U. Srirangalingam, S. Chew, S. Hodgson, 2013, Clinical endocrinology.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

E. Zackai, S. Twigg, A. Wilkie, 2002, American journal of human genetics.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

D. Pilz, J. Burn, D. Fitzpatrick, 2017, European journal of medical genetics.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

H. Firth, A. Fry, D. Pilz, 2017, Journal of Medical Genetics.

Detection of structural mosaicism from targeted and whole-genome sequencing data

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2016, bioRxiv.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, American journal of medical genetics. Part A.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

S. Tomkins, E. Sheridan, S. Joss, 2008, European Journal of Pediatrics.

Lymphangioleiomyomatosis and tuberous sclerosis.

J. Osborne, J. Sampson, S. Tomkins, 2002, Respiratory medicine.

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

Y. Crow, S. Orcesi, D. Doherty, 2011, Neuropediatrics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, 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 .

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

N. S. Thomas, J. Rankin, S. Tomkins, 2009, American journal of medical genetics. Part A.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

C. Lese-Martin, N. Rahman, Shuwen Huang, 2009, American journal of medical genetics. Part A.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

John Broxholme, Elizabeth Sweeney, Angela F Brady, 2013, Nature Genetics.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

N. Rahman, I. Temple, S. Hanks, 2003, American journal of human genetics.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, B. Kerr, 2019, European Journal of Human Genetics.

CHARGE association: An update

S. Tomkins, H. Hughes, 1997 .

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Soo-Mi Park, A. Antoniou, R. Lindsay, 2018, Journal of Medical Genetics.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, 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.

Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders

J. Sampson, S. Tomkins, Julia C Lewis, 2001, Journal of medical ethics.

A. Pichiecchio, S. Orcesi, D. Doherty, 2012, Neuropediatrics.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Alexander Kanapin, J. Mulliken, J. Broxholme, 2013, Nature Genetics.

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.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, American journal of medical genetics. Part A.