James O'Sullivan, BSc

Search results

• 2021

  A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN

  Donofrio, C. A., Roncaroli, F., Riccio, L., Pereira, M., O'Sullivan, J., Mayers, H., Potter, G. M., Djoukhadar, I. & Rutherford, S. A., 19 Jun 2021, In: Neuro-Chirurgie.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Neoplasm 100%
  • Magnetic Resonance Imaging 50%
  • Follow up 50%
  • Neurinoma 50%
  • Accessory Nerve 50%
  30 Downloads (Pure)

• Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis

  Megremis, S., Walker, T., He, X., O'Sullivan, J., Ollier, W., Chinoy, H., Pendleton, N., Payton, A., Hampson, L., Hampson, I. & Lamb, J., 26 Mar 2021, In: Communications Biology.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Protein 100%
  • Monospecific Antibody 100%
  • Dermatomyositis 100%
  • Autoantibodies 60%
  • Species 40%

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

  Newman, W., O'Keefe, R., Demain, L., Beaman, G., O'Sullivan, J., Edgerley, J. J., Miles, E. K., Busby, G. & Fitzgerald, C., 16 Jul 2021, (E-pub ahead of print) In: Reproductive BioMedicine Online.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Primary Ovarian Insufficiency 100%
  • Diagnosis 25%
  • Gene 25%
  • Woman 25%
  • Gene Deletion 25%
  9 Downloads (Pure)

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

  Hochberg, I., Demain, L., Richer, J., Thompson, K., Urquhart, J., Rea, A., Pagarkar, W., Rodriguez-Palmero, A., Beaman, G., O'Sullivan, J., Williams, S., Bhaskar, S., O'Keefe, R., Newman, W. & Munro, K., 28 Oct 2021, In: American Journal of Human Genetics. 108, 11, p. 2195-2204 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • RNase P 100%
  • Processing 60%
  • Transfer RNA 60%
  • Protein 40%
  • Steady State 40%
  43 Downloads (Pure)
• 2020

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

  Belot, A., Rice, G., Ommar, O. S., Rouchon, Q., Smith, E. M. D., Moreews, M., Tusseau, M., Frachette, C., Bournhonesque, R., Thielens, N., Gaboriaud, C., Rouvet, I., Chopin, E., Hoshino, A., Latour, S., Ranchin, B., Cimaz, R., Romagnani, P., Malcus, C., Fabien, N., & 22 othersSarda, M-N., Kassai, B., Lega, J. C., Decramer, S., Abou-Jaoude, P., Bruce, I., Simonet, T., Bardel, C., Rollat-Farnier, P. A., Viel, S., Reumaux, H., O'Sullivan, J., Walzer, T., Mathieu, A-L., Marenne, G., Ludwig, T., Genin, E., Ellingford, J., Bader-Meunier, B., Briggs, T., Beresford, M. W. & Crow, Y., Feb 2020, In: The Lancet Rheumatology. 2, p. e99-109 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Systemic Lupus Erythematosus 100%
  • Gene 75%
  • Nested Gene 75%
  • Childhood 50%
  • Lupus Erythematosus 50%

• Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom Syndrome

  Huson, S., Staab, T., Pereira, M., Ward, H., Paredes, R., Evans, D. G., Baumhoer, D., O'Sullivan, J., Cheesman, E., Schindler, D. & Meyer, S., 11 Nov 2020, (Accepted/In press) In: Familial Cancer.

  Research output: Contribution to journal › Article › peer-review

  • Bloom Syndrome 100%
  • Genetics 50%
  • Age 50%
  • Interpersonal Communication 25%
  • Pediatrics 25%

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

  Madhu, R., Beaman, G. M., Chandler, K. E., O'Sullivan, J., Urquhart, J. E., Khan, N., Martindale, E., Briggs, T. A., Clayton-Smith, J., Higgs, J., Batra, G., Kerr, B., Woolf, A. S. & Newman, W. G., 1 Sep 2020, In: European journal of medical genetics. 63, 9, 103974.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • LIG4 100%
  • Ligase 50%
  • Protein 33%
  • Radiation 16%
  • Growth 16%
• 2019

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

  Beaman, G. M., Galatà, G., Teik, K. W., Urquhart, J. E., Aishah, A., O'Sullivan, J., Bhaskar, S. S., Wood, K. A., Thomas, H. B., O'Keefe, R. T., Woolf, A. S., Stuart, H. M. & Newman, W. G., 19 Nov 2019, In: Clinical Genetics. 96, 6, p. 515-520 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mydriasis 100%
  • Sample 50%
  • Genotyping 50%
  • Life 50%
  • Surface Property 50%

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

  Veeramachaneni, R., Walker, T., Revil, T., De Weck, A., Badescu, D., O'Sullivan, J., Higgins, C. L., Elliot, L., Liloglou, T., Risk, J. M., Shaw, R. J., Hampson, L., Hampson, I., Dearden, S., Woodwards, R., Prime, S., Hunter, K., Parkinson, E. K., Ragoussis, J. & Thakkar, N., 19 Aug 2019, In: Scientific Reports. 17 p., 11992.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Somatics 100%
  • Malignant Neoplasm 75%
  • Gene 50%
  • Cell Line 50%
  • Metastatic Carcinoma 50%
  92 Downloads (Pure)

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

  Konstantinidis, A., Cheesman, E., O'Sullivan, J., Pavaine, J., Avula, S., Pizer, B. & Kilday, J. P., 2019, In: World Neurosurgery.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Dermatofibroma 100%
  • Surgery 62%
  • Child 62%
  • Patient 50%
  • Recurrent Disease 50%
  188 Downloads (Pure)
• 2018

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

  Demain, L. A. M., Antunes, D., O'Sullivan, J., Bhaskhar, S. S., O'Keefe, R. T. & Newman, W. G., 19 Apr 2018, In: Clinical Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File
  38 Downloads (Pure)
• 2017

  ACTB loss-of-function mutations result in a pleiotropic developmental disorder

  Cuvertino, S., Stuart, H., Chandler, K. E., Roberts, N., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Hernando Davalillo, C., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K., & 21 othersLanglois, S., Lennon, R., Loget, P., Ma, D. Y. T., Ruth, M., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., study, T. DDD., Woolf, A. S. & Banka, S., 7 Dec 2017, In: American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Actin 100%
  • Fibroblast 75%
  • Mental Retardation 75%
  • Protein 50%
  • Mutation 50%

• Marfanoid habitus is a nonspecific feature of Perrault syndrome

  Zerkaoui, M., Demain, L. A. M., Cherkaoui Jaouad, I., Ratbi, I., Amjoud, K., Urquhart, J. E., O'Sullivan, J., Newman, W. G. & Sefiani, A., 1 Oct 2017, In: Clinical dysmorphology. 26, 4, p. 200-204 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Syndrome 100%
  • Family 80%
  • Patient 60%
  • Gene 40%
  • Sensorineural Hearing Loss 40%
  30 Downloads (Pure)

• ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

  Böhm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J-F., Romero, N., & 3 othersNewman, W. G., Demaurex, N. & Laporte, J., 1 Apr 2017, In: Human Mutation. 38, 4

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Homeostasis 40%
  • Introspection 20%
  • Modulation 20%
  • Mutant 20%
  107 Downloads (Pure)
• 2016

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

  Urquhart, J. E., Beaman, G., Byers, H., Roberts, N. A., Chervinsky, E., O'Sullivan, J., Pilz, D., Fry, A., Williams, S. G., Bhaskar, S. S., Khayat, M., Simanovsky, N., Shachar, I. B., Shalev, S. A. & Newman, W. G., Jun 2016, In: Clinical Genetics. 89, 6, p. 724-7 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Development 100%
  • Transcription Factor 100%
  • Comprehension 50%
  • Nested Gene 50%
  • Zebra Fish 50%

• Expanding the Genotypic Spectrum of Perrault syndrome.

  Demain, L., Urquhart, J., O'Sullivan, J., Williams, S., Jenkinson, E., Bhaskar, S. S., Lourenco, C. M., Heiberg, A., Pearce, S. H., Shalev, S. A., Yue, W. W., Mackinnon, S., Munro, K., Newbury-Ecob, R., Becker, K., Kim, M. J., O'Keefe, R. & Newman, W., 2016, In: Clinical Genetics.

  Research output: Contribution to journal › Article › peer-review

  • Family 100%
  • Syndrome 100%
  • Gene 50%
  • Female 50%
  • Nested Gene 50%

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

  Sergouniotis, P., Ellingford, J., O'Sullivan, J., Fenerty, C. & Black, G., 2016, In: Acta Ophthalmologica.

  Research output: Contribution to journal › Article › peer-review

  • Childhood 100%
  • Genome Sequencing 100%
  • Glaucoma 100%

• Molecular findings from 537 individuals with inherited retinal disease

  Ellingford, J., Barton, S., Bhaskar, S., O'Sullivan, J., Williams, S., Lamb, J., Panda, B., Sergouniotis, P., Gillespie, R., Daiger, S., Hall, G., Gale, T., Lloyd, C., Bishop, P., Ramsden, S. & Black, G., Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 761-767 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Next Generation Sequencing 100%
  • Nested Gene 80%
  • Exome 60%
  • Mutation 40%
  • Electric Potential 20%

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

  Jenkinson, E., Rodero, M. P., Kasher, P., Uggenti, C., Oojageer, A., Goosey, L., Rose, Y., Urquhart, J., Williams, S., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M., Brunstrom-Hernandez, J. E., & 46 othersBuckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G., Griffiths-Jones, S., Rice, G., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R., Crow, Y. & Kershaw, C., 19 Sep 2016, In: Nature Genetics. 48, 10, p. 1185–1192 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Small Nucleolar RNA 66%
  • Leukoencephalopathy 66%
  • Nested Gene 33%
  • Age 33%
  518 Downloads (Pure)

• Non lethal Raine syndrome and differential diagnosis

  Elalaoui, S. C., Al-Sheqaih, N., Ratbi, I., Urquhart, J. E., O'Sullivan, J., Bhaskar, S., Williams, S., Elalloussi, M., Lyahyai, J., Sbihi, L., Cherkaoui Jaouad, I., Sbihi, A., Newman, W. G. & Sefiani, A., Nov 2016, In: European journal of medical genetics. 59, 11, p. 577-583 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Amelogenesis 100%
  • Life 66%
  • Learning 33%
  • Phenotype 33%
  • Bone 33%

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

  Bursztejn, A-C., Briggs, T., Del Toro Duany, Y., Anderson, B., O'Sullivan, J., Williams, S., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G. I., Hur, S. & Crow, Y., 28 Dec 2016, In: The British journal of dermatology. 173, 6, p. 1505–1513

  Research output: Contribution to journal › Article › peer-review

  • Syndrome 100%
  • Gene 50%
  • Mutation 50%
  • Interferon Type I 50%
  • Interferon 33%

• Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease

  Ellingford, J., Barton, S., Bhaskar, S., Williams, S., Sergouniotis, P., O'Sullivan, J., Lamb, J., Perveen, R., Hall, G., Newman, W., Bishop, P., Roberts, S., Leach, R., Tearle, R., Bayliss, S., Ramsden, S., Nemeth, A. H. & Black, G., 9 Feb 2016, In: Ophthalmology. 123, 5, p. 1143–1150

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Next Generation Sequencing 100%
  • Whole Genome Sequencing 91%
  • Retina Disease 58%
  • Diagnosis 50%
  • Molecular Diagnosis 33%
• 2015

  Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

  Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., Alsubaie, L., Ch'ng, G-S., van der Laar, I. M. B. H., Hoogeboom, A. J. M., Dunnwald, M., Kapoor, S., Jiramongkolchai, P., Standley, J., Manak, J. R., Murray, J. C. & Dixon, M. J., 1 Mar 2015, In: American Journal of Medical Genetics. Part A. 167A, 3, p. 545-52

  Research output: Contribution to journal › Article › peer-review

  • Syndrome 100%
  • Popliteal Pterygium Syndrome 100%
  • Interferon Regulatory Factor 6 50%
  • Diseases 33%
  • Joint 16%

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

  Conte, I., Hadfield, K. D., Barbato, S., Carrella, S., Pizzo, M., Bhat, R. S., Carissimo, A., Karali, M., Porter, L. F., Urquhart, J., Hateley, S., O'Sullivan, J., Manson, F. D. C., Neuhauss, S. C. F., Banfi, S. & Black, G. C. M., 8 Jun 2015, In: Proceedings of the National Academy of Sciences of the United States of America. 112, 25, p. E3236-E3245

  Research output: Contribution to journal › Article › peer-review

  • MicroRNA 100%
  • Genetics 60%
  • Mutation 60%
  • Retinal Dystrophy 60%
  • Fish 40%

• Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

  Smith, M., Isidor, B., Beetz, C., Williams, S., Bhaskar, S. S., Richer, W., O'Sullivan, J., Anderson, B., Daly, S., Urquhart, J., Fryer, A., Rustad, C. F., Mills, S. J., Samii, A., du Plessis, D., Halliday, D., Barbarot, S., Bourdeaut, F., Newman, W. & Evans, G., 13 Jan 2015, In: Neurology. 84, 2, p. 141-147 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Patient 85%
  • Schwannomatosis 85%
  • Vestibular Schwannoma 57%
  • Germline Mutation 42%

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

  Ravesh, Z., El Asrag, M. E., Weisschuh, N., McKibbin, M., Reuter, P., Watson, C. M., Baumann, B., Poulter, J. A., Sajid, S., Panagiotou, E. S., O'Sullivan, J., Abdelhamed, Z., Bonin, M., Soltanifar, M., Black, G. C. M., Amin-ud Din, M., Toomes, C., Ansar, M., Inglehearn, C. F., Wissinger, B., & 1 othersAli, M., 7 Mar 2015, In: Molecular vision. 21, p. 236-243 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Family 100%
  • Mutation 100%
  • Retinitis pigmentosa 50%
  • Assay 33%
  • Phenotype 33%

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

  Ellingford, J., Sergouniotis, P., Lennon, R., Bhaskar, S., Williams, S., Hillman, K. A., O'Sullivan, J., Hall, G., Ramsden, S., Lloyd, C., Woolf, A. & Black, G., 9 May 2015, In: The Lancet. 385, 9980, p. 1916-1917 1 p.

  Research output: Contribution to journal › Article › peer-review
• 2014

  Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.

  Wieczorek, D., Newman, W., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S., Williams, S., Bhaskar, S. S., Urquhart, J., Anderson, B., O'Sullivan, J., Boute, O., Gundlach, J., Czeschik, J. C., & 22 othersvan Essen, A. J., Hazan, F., Park, S., Hing, A., Kuechler, A., Lohmann, D. R., Ludwig, K. U., Mangold, E., Steenpaß, L., Zeschnigk, M., Lemke, J. R., Lourenco, C. M., Hehr, U., Prott, E-C., Waldenberger, M., Böhmer, A. C., Horsthemke, B., O'Keefe, R., Meitinger, T., Burn, J., Lüdecke, H-J. & Strom, T. M., 25 Nov 2014, In: American Journal of Human Genetics. 95, 6

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Promoter Region 100%
  • Mutation 50%
  • Loss of Function Mutation 50%
  • Allele 33%
  • Compound Heterozygosity 33%

• Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis

  Daly, S., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. & Girisha, K. M., Aug 2014, In: Molecular Syndromology. 5, 5, p. 218-228 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Exome Sequencing 100%
  • Arthrogryposis 50%
  • Diseases 33%
  • Family 33%
  • Mutation 33%

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

  Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E. M., Battini, R., Beresford, M. W., Casarano, M., Chouchane, M., Cimaz, R., Collins, A. E., Cordeiro, N. J. V., Dale, R. C., Davidson, J. E., De Waele, L., Desguerre, I., Faivre, L., & 33 othersFazzi, E., Isidor, B., Lagae, L., Latchman, A. R., Lebon, P., Li, C., Livingston, J. H., Lourenço, C. M., Mancardi, M. M., Masurel-Paulet, A., McInnes, I. B., Menezes, M. P., Mignot, C., O'Sullivan, J., Orcesi, S., Picco, P. P., Riva, E., Robinson, R. A., Rodriguez, D., Salvatici, E., Scott, C., Szybowska, M., Tolmie, J. L., Vanderver, A., Vanhulle, C., Vieira, J. P., Webb, K., Whitney, R. N., Williams, S., Wolfe, L. A., Zuberi, S. M., Hur, S. & Crow, Y., May 2014, In: Nature Genetics. 46, 5, p. 503-509 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Interferon Type I 100%
  • Mutation 66%
  • RNA 66%
  • Phenotype 66%
  • Spectrum 66%

• Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations

  Smith, M. J., Beetz, C., Williams, S., Bhaskar, S., O'Sullivan, J., Anderson, B., Daly, S., Urquhart, J., Bholah, Z., Oudit, D., Cheesman, E., Kelsey, A., Mccabe, M., Newman, W. & Evans, G., 20 Dec 2014, In: Journal of Clinical Oncology. 32, 36, p. 4155-4161 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • SUFU 100%
  • PTCH1 80%
  • Germline 20%
  • Childhood 20%

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

  Gillespie, R., O'Sullivan, J., Ashworth, J., Bhaskar, S., Williams, S., Biswas, S., Kehdi, E., Ramsden, S. C., Clayton-Smith, J., Black, G. & Lloyd, C., Nov 2014, In: Ophthalmology. 121, 11

  Research output: Contribution to journal › Article › peer-review

  • Congenital Cataract 100%
  • Diagnosis 42%
  • Patient 28%
  • Analysis 28%
  • Phenotype 28%
• 2013

  A clinical molecular genetic service for United Kingdom families withchoroideraemia

  Ramsden, S. C., O'Grady, A., Fletcher, T., O'Sullivan, J., Hart-Holden, N., Barton, S. J., Hall, G., Moore, A. T., Webster, A. R. & Black, G. C., Aug 2013, In: European journal of medical genetics. 56, 8, p. 432-438 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Diagnosis 100%
  • Family 100%
  • Patient 40%
  • Molecular Diagnosis 40%
  • Male 40%

• Autozygosity Mapping with Exome Sequence Data

  Carr, I. M., Bhaskar, S., O' Sullivan, J., Aldahmesh, M. A., Shamseldin, H. E., Markham, A. F., Bonthron, D. T., Black, G., Alkuraya, F. S. & O'Sullivan, J., Jan 2013, In: Human Mutation. 34, 1, p. 50-56 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Genotyping 100%
  • Exome 100%
  • Sequencing 60%
  • Nested Gene 60%
  • Microarrays 40%

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

  Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., Du Plessis, D., Newman, W. G. & Evans, D. G., Mar 2013, In: Nature Genetics. 45, 3, p. 295-298 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Loss of Function Mutation 100%
  • Mutation 66%
  • SWI/SNF 66%
  • Sequencing 33%
  • Nested Gene 33%

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

  Belot, A., Kasher, P. R., Trotter, E. W., Foray, A-P., Debaud, A-L., Rice, G. I., Szynkiewicz, M., Zabot, M-T., Rouvet, I., Bhaskar, S. S., Daly, S. B., Dickerson, J. E., Mayer, J., O'Sullivan, J., Juillard, L., Urquhart, J. E., Fawdar, S., Marusiak, A. A., Stephenson, N., Waszkowycz, B., & 15 othersW Beresford, M., Biesecker, L. G., C M Black, G., René, C., Eliaou, J-F., Fabien, N., Ranchin, B., Cochat, P., Gaffney, P. M., Rozenberg, F., Lebon, P., Malcus, C., Crow, Y. J., Brognard, J. & Bonnefoy, N., Aug 2013, In: Arthritis Care & Research. 65, 8, p. 2161-2171 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Systemic Lupus Erythematosus 100%
  • B Cell 100%
  • Programmed Cell Death 42%
  • Mutation 42%
  • Apoptosis 42%
• 2012

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

  O'Sullivan, J., Mullaney, B. G., Bhaskar, S. S., Dickerson, J. E., Hall, G., O'Grady, A., Webster, A., Ramsden, S. C. & Black, G. C., May 2012, In: Journal of Medical Genetics. 49, 5, p. 322-326 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Patient 100%
  • Diagnosis 80%
  • Diseases 80%
  • Gene 60%
  • Nested Gene 60%

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

  Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., Antonini, D., Murray, J. C., Shanske, A. L., Schutte, B. C., Romano, R-A., Sinha, S., Bhaskar, S. S., Black, G. C. M., Dixon, J. & Dixon, M. J., 13 Jan 2012, In: American Journal of Human Genetics. 90, 1, p. 69-75 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein 100%
  • Mutation 100%
  • Kinase 66%
  • Development 33%
  • Surface Property 33%

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

  Ferraldeschi, R., Latif, A., Clarke, R. B., Spence, K., Ashton, G., O'Sullivan, J., Evans, D. G., Howell, A. & Newman, W. G., Apr 2012, In: Breast Cancer Research and Treatment. 132, 3, p. 1185-1186 1 p.

  Research output: Contribution to journal › Article › peer-review

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

  Anderson, B., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D., & 45 othersChong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I., Yanick, J. & Lourenço, C. M., Mar 2012, In: Nature Genetics. 44, 3, p. 338-342 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Telomere Homeostasis 100%
  • Lysozyme 50%
  • Arabidopsis 50%
  • Mutant 50%
• 2011

  Childhood-onset autosomal recessive bestrophinopathy

  Dev Borman, A., Davidson, A. E., O'Sullivan, J., Thompson, D. A., Robson, A. G., De Baere, E., Black, G. C. M., Webster, A. R., Holder, G. E., Leroy, B. P., Manson, F. D. C. & Moore, A. T., Aug 2011, In: Archives of Ophthalmology. 129, 8, p. 1088-1093 5 p.

  Research output: Contribution to journal › Article › peer-review

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

  Hanson, D., Murray, P. G., O'Sullivan, J., Urquhart, J., Daly, S., Bhaskar, S. S., Biesecker, L. G., Skae, M., Smith, C., Cole, T., Kirk, J., Chandler, K., Kingston, H., Donnai, D., Clayton, P. E. & Black, G. C. M., 15 Jul 2011, In: American Journal of Human Genetics. 89, 1, p. 148-153 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Growth 100%
  • Mutation 100%
  • Exome Sequencing 66%
  • Nested Gene 33%
  • Human Genetics 33%

• Hyperplastic polyps are innocuous lesions in hereditary nonpolyposis colorectal cancers

  Speake, D., O'Sullivan, J., Evans, DG., Lalloo, F., Hill, J. & McMahon, RF., 2011, In: International journal of surgical oncology. 2011, 653163.

  Research output: Contribution to journal › Article › peer-review

  • Polyp 100%
  • Hereditary Nonpolyposis Colorectal Cancer 83%
  • Methylation 83%
  • Protein Expression 33%
  • Microsatellite Instability 33%

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

  O'Sullivan, J., Bitu, C. C., Daly, S. B., Urquhart, J., Barron, M. J., Bhaskar, S. S., Martelli-Júnior, H., Dos Santos Neto, P. E., Mansilla, M. A., Murray, J. C., Coletta, R. D., Black, G. C. M. & Dixon, M. J., 13 May 2011, In: American Journal of Human Genetics. 88, 5, p. 616-620 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Amelogenesis 100%
  • Mutation 40%
  • Data Base 40%
  • Exome Sequencing 40%
  • Nonsense Mutation 20%

• Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the say-barber-biesecker variant of Ohdo syndrome

  Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., Kerr, B., Tassabehji, M., Lynch, S. A., Krajewska-Walasek, M., McKee, S., Smith, J., Sweeney, E., Mansour, S., & 3 othersMohammed, S., Donnai, D. & Black, G., 11 Nov 2011, In: American Journal of Human Genetics. 89, 5, p. 675-681 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Exome Sequencing 80%
  • Gene 60%
  • Syndrome 60%
  • Nested Gene 60%
• 2010

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

  Towns, K. V., Kipioti, A., Long, V., McKibbin, M., Maubaret, C., Vaclavik, V., Ehsani, P., Springell, K., Kamal, M., Ramesar, R. S., Mackey, D. A., Moore, A. T., Mukhopadhyay, R., Webster, A. R., Black, G. C. M., O'Sullivan, J., Bhattacharya, S. S., Pierce, E. A., Beggs, J. D. & Inglehearn, C. F., May 2010, In: Human Mutation. 31, 5, p. E1361-E1376

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Phenotype 44%
  • Yeast 44%
  • Retinitis pigmentosa 22%
  • Splicing Factor 22%
• 2009

  A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

  Kalyanasundaram, T. S., Black, G. C., O'Sullivan, J. & Bishop, P. N., Jan 2009, In: Eye. 23, 1, p. 237-239 2 p.

  Research output: Contribution to journal › Article › peer-review

• Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

  Davidson, A. E., Millar, I. D., Urquhart, J. E., Burgess-Mullan, R., Shweikh, Y., Parry, N., O'Sullivan, J., Maher, G. J., McKibbin, M., Downes, S. M., Lotery, A. J., Jacobson, S. G., Brown, P. D., Black, G. C. M. & Manson, F. D. C., 13 Nov 2009, In: American Journal of Human Genetics. 85, 5, p. 581-592 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Bestrophin 1 100%
  • Retinitis pigmentosa 42%
  • Protein 28%
  • Retina Dystrophy 28%
  • Missense Mutation 28%
• 2006

  Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

  Kerr, B., Delrue, M. A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., Stef, M., Tang, B., Eden, O. B., O'Sullivan, J., De Sandre-Giovannoli, A., Reardon, W., Brewer, C., Bennett, C., Quarell, O., M'Cann, E., Donnai, D., Stewart, F., Hennekam, R., Cavé, H., & 6 othersVerloes, A., Philip, N., Lacombe, D., Levy, N., Arveiler, B. & Black, G., May 2006, In: Journal of Medical Genetics. 43, 5, p. 401-405 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Costello Syndrome 100%
  • Mutation 100%
  • HRAS 71%
  • Analysis 57%
  • Patient 28%
• 2005

  Identification of mutations in CUL7 in 3-M syndrome

  Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Uzielli, M. L. G., Dagoneau, N., Chemaitilly, W., Superti-Furga, A., Dos Santos, H., Mégarbané, A., Morin, G., Gillessen-Kaesbach, G., Hennekam, R., Van Der Burgt, I., Black, G. C. M., & 8 othersClayton, P. E., Read, A., Le Merrer, M., Scambler, P. J., Munnich, A., Pan, Z. Q., Winter, R. & Cormier-Daire, V., Oct 2005, In: Nature Genetics. 37, 10, p. 1119-1124 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Cullin 100%
  • Prenatal Growth 66%
  • Nested Gene 33%
  • Mutation 33%
  • Ubiquitination 33%