James O'Sullivan

2024

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Haghshenas, S., Putoux, A., Reilly, J., Levy, M. A., Relator, R., Ghosh, S., Kerkhof, J., McConkey, H., Edery, P., Lesca, G., Besson, A., Coubes, C., Willems, M., Ruiz-Pallares, N., Barat-Houari, M., Tizzano, E. F., Valenzuela, I., Sabbagh, Q., Clayton-Smith, J. & Jackson, A. & 5 others, O'Sullivan, J., Bromley, R., Banka, S., Genevieve, D. & Sadikovic, B., 29 Jul 2024, (E-pub ahead of print) In: Genetics in medicine : official journal of the American College of Medical Genetics. p. 101226

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

2023

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

Ashton, C. J., Perveen, R., Beaman, G., Crisponi, G., González-Del Angel, A., Garza-Mayén, G., Alcántara-Ortigoza, M. A., O'Sullivan, J. & Clayton-Smith, J., 1 Jan 2023, In: Clinical dysmorphology. 32, 1, p. 7-13 7 p.

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

Beta-cell death and dysfunction drives hyperglycaemia in organ donors

Shapey, I., Summers, A., O'Sullivan, J., Fullwood, C., Hanley, N., Casey, J., Forbes, S., Rosenthal, M., Johnson, P. R., Choudhary, P., Bushnell, J., Shaw, J. A., Neiman , D., Shemer , R., Glaser , B., Dor , Y., Augustine, T., Rutter, M. K. & van Dellen, D., 1 Dec 2023, In: Diabetes, Obesity and Metabolism. 25, 12, p. 3529-3537 9 p.

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

Open Access

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.

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Open Access

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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.

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Open Access

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.

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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.

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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 others, Sarda, 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

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

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 Sept 2020, In: European journal of medical genetics. 63, 9, 103974.

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

Open Access

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.

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Open Access

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.

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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.

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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.

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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 others, Langlois, 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. D., 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

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.

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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 others, Newman, W. G., Demaurex, N. & Laporte, J., 1 Apr 2017, In: Human Mutation. 38, 4

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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

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

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

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

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 others, Buckard, 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 Sept 2016, In: Nature Genetics. 48, 10, p. 1185–1192 11 p.

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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

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

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

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

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

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

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 others, Ali, M., 7 Mar 2015, In: Molecular vision. 21, p. 236-243 8 p.

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

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 others, van 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

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

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 others, Fazzi, 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

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

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

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

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

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

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 others, W 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

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

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

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 others, Chong, 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

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

Hyperplastic polyps are innocuous lesions in hereditary nonpolyposis colorectal cancers

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

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

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

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 others, Mohammed, 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

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

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

James O'Sullivan, BSc

Research output

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