J. O’Sullivan

发表

Hyperplastic Polyps Are Innocuous Lesions in Hereditary Nonpolyposis Colorectal Cancers

D. Evans, F. Lalloo, D. Speake, 2011, International journal of surgical oncology.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

J. Clayton-Smith, W. Newman, A. Woolf, 2020, European journal of medical genetics.

Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions: a report of two pediatric cases.

J. Kilday, B. Pizer, E. Cheesman, 2019, World neurosurgery.

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood‐onset glaucoma

P. Sergouniotis, G. Black, J. Ellingford, 2017, Acta ophthalmologica.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

W. Newman, R. O’Keefe, E. Miles, 2021, Reproductive biomedicine online.

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

I. C. Lloyd, J. Clayton-Smith, S. Bhaskar, 2014, Ophthalmology.

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

W. Newman, S. Bhaskar, S. Banka, 2014, Molecular Syndromology.

Marfanoid habitus is a nonspecific feature of Perrault syndrome

W. Newman, A. Sefiani, J. Urquhart, 2017, Clinical dysmorphology.

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

Jeffrey C Murray, Michael J Dixon, S. Bhaskar, 2011, American journal of human genetics.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

S. Bhaskar, S. Sinha, J. Murray, 2012, American journal of human genetics.

Expanding the genotypic spectrum of Perrault syndrome

S. Bhaskar, W. Yue, R. Newbury-Ecob, 2017, Clinical genetics.

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

Jonathan E. Dickerson, S. Bhaskar, G. Hall, 2012, Journal of Medical Genetics.

Analysis of head and neck carcinoma progression reveals novel and relevant stage-specific changes associated with immortalisation and malignancy

Thomas Walker, R. Shaw, I. Hampson, 2018, Scientific Reports.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

D. Eccles, D. Evans, W. Newman, 2013, Nature Genetics.

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

S. Kapoor, J. Murray, M. Cunningham, 2015, American journal of medical genetics. Part A.

Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis

J. Lamb, I. Hampson, A. Payton, 2021, Communications biology.

Microbial and autoantibody immunogenic repertoires in TIF1γ autoantibody positive dermatomyositis

J. Lamb, I. Hampson, A. Payton, 2020, bioRxiv.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

D. Evans, W. Newman, S. Bhaskar, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Dian Donnai, Leslie G Biesecker, Dan Hanson, 2011, American journal of human genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Lack of caveolin-1 (P132L) somatic mutations in breast cancer

A. Howell, D. Evans, W. Newman, 2012, Breast Cancer Research and Treatment.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Bohdan Waszkowycz, Leslie G Biesecker, Natalie Stephenson, 2013, Arthritis and rheumatism.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

M. Bonin, M. McKibbin, C. Inglehearn, 2015, Molecular vision.

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

W. Newman, S. Bhaskar, A. Woolf, 2019, Clinical genetics.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Rick Tearle, Georgina Hall, Simon C Ramsden, 2016, Ophthalmology.

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

R. Moots, R. Redon, I. Bruce, 2020, The Lancet. Rheumatology.

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

S. Neuhauss, S. Banfi, M. Pizzo, 2015, Proceedings of the National Academy of Sciences.

A clinical molecular genetic service for United Kingdom families with choroideraemia.

G. Hall, A. Webster, A. Moore, 2013, European journal of medical genetics.

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

S. Jacobson, M. McKibbin, A. Lotery, 2009, American journal of human genetics.

Childhood-onset autosomal recessive bestrophinopathy.

Dorothy A. Thompson, G. Holder, A. Webster, 2011, Archives of ophthalmology.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

W. Newman, S. Bhaskar, A. Fry, 2016, Clinical genetics.

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

J. Clayton-Smith, A. González-del Angel, J. O’Sullivan, 2022, Clinical dysmorphology.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2010, Human mutation.

Prognosis for splicing factor PRPF8 Retinitis pigmentosa and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2009 .

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes

C. Bodemer, G. Rice, T. Briggs, 2015, The British journal of dermatology.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

Non lethal Raine syndrome and differential diagnosis.

W. Newman, S. Bhaskar, J. Lyahyai, 2016, European journal of medical genetics.

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects

W. Newman, R. O’Keefe, J. O’Sullivan, 2018, Clinical genetics.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

D. Evans, S. Huson, D. Schindler, 2020, Familial cancer.

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

I. C. Lloyd, S. Bhaskar, G. Hall, 2015, The Lancet.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

S. Bhattacharya, J. Beggs, K. Springell, 2010, Human mutation.

Analysis of head and neck carcinoma progression reveals novel and relevant stage-speci(cid:420)c changes associated with immortalisation and malignancy

J. Ragoussis, Thomas Walker, I. Hampson, 2019 .

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

S. Bhaskar, J. Murray, M. Barron, 2011, American journal of human genetics.