S. Bhaskar

发表

Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls

Jake K. Byrnes, Tomas W. Fitzgerald, Renwick, 2010 .

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

P. Visscher, A. McRae, I. Deary, 2011, PloS one.

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

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

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy

W. Newman, S. Bhaskar, A. Azem, 2017, American journal of medical genetics. Part A.

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing

Shuwen Huang, S. Bhaskar, G. Ellison, 2015, BMC Clinical Pathology.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

S. Lovell, S. Bhaskar, G. Hall, 2016, Orphanet Journal of Rare Diseases.

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.

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome

J. Clayton-Smith, W. Newman, S. Bhaskar, 2015, Journal of Human Genetics.

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.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature 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.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Lathrop, 2019, Circulation research.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

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.

Autozygosity Mapping with Exome Sequence Data

D. Bonthron, F. Alkuraya, S. Bhaskar, 2013, Human mutation.

Validation of copy number variation analysis for next-generation sequencing diagnostics

Binay Panda, Christopher Campbell, Saurabh Gupta, 2017, European Journal of Human 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.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Christopher Campbell, Rachel L. Taylor, Catriona Tate, 2017, Journal of Medical Genetics.

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.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

LRIG2 mutations cause urofacial syndrome.

Jonathan E. Dickerson, B. Gener, W. Newman, 2013, American journal of human genetics.

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

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

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.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

S. Bhaskar, S. Banka, S. Douzgou, 2017, Archives of Disease in Childhood.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Journal of Medical Genetics.

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.

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.

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

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

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

S. O’Rahilly, A. Palotie, C. Scott, 2011, Front. Endocrin..

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

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

A deep intronic SMARCB1 variant associated with schwannomatosis

S. Bhaskar, Meredith Wilson, A. Wallace, 2020, Clinical genetics.

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.

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

J. Clayton-Smith, S. Lovell, W. Newman, 2015, Journal of Human Genetics.

Non lethal Raine syndrome and differential diagnosis.

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

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.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Jonathan E. Dickerson, R. Collins, M. Nalls, 2011, The Lancet.

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

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.

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

Jonathan E. Dickerson, P. Gaffney, L. Biesecker, 2013, Arthritis and rheumatism.