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155 results on '"Henderson, Robert H."'

5. First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia

Author

Michaelides, Michel, Hirji, Nashila, Wong, Sui Chien, Besirli, Cagri G., Zaman, Serena, Kumaran, Neruban, Georgiadis, Anastasios, Smith, Alexander J., Ripamonti, Caterina, Gottlob, Irene, Robson, Anthony G., Thiadens, Alberta, Henderson, Robert H., Fleck, Penny, Anglade, Eddy, Dong, Xiangwen, Capuano, George, Lu, Wentao, Berry, Pamela, Kane, Thomas, Naylor, Stuart, Georgiou, Michalis, Kalitzeos, Angelos, Ali, Robin R., Forbes, Alexandria, and Bainbridge, James

Published
2023
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7. Traumatic Retinal Detachment in Patients with Self-Injurious Behavior: An International Multicenter Study

Author

Rossin, Elizabeth J., Tsui, Irena, Wong, Sui Chien, Hou, Kirk K., Prakhunhungsit, Supalert, Blair, Michael P., Shapiro, Michael J., Leishman, Lisa, Nagiel, Aaron, Lifton, Jacob A., Quiram, Polly, Ringeisen, Alexander L., Henderson, Robert H., Arruti, Natalia, Buzzacco, Dominic M., Kusaka, Shunji, Ferrone, Philip J., Belin, Peter J., Chang, Emmanuel, Hubschman, Jean-Pierre, Murray, Timothy G., Leung, Ella H., Wu, Wei-Chi, Olsen, Karl R., Harper, C. Armitage, III, Rahmani, Safa, Goldstein, Jessica, Lee, Thomas, Nudleman, Eric, Cernichiaro-Espinosa, Linda A., Chhablani, Jay, Berrocal, Audina M., and Yonekawa, Yoshihiro

Published
2021
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8. Contributors

Author

Aleman, Tomas S., primary, Amati-Bonneau, Patrizia, additional, Arveiler, Benoît, additional, Ashworth, Jane L., additional, Audo, Isabelle, additional, Bacci, Giacomo M., additional, Balducci, Nicole, additional, Balikova, Irina, additional, Bauwens, Miriam, additional, Barboni, Piero, additional, Birtel, Johannes, additional, Biswas, Susmito, additional, Black, Graeme C.M., additional, Blanchet, Catherine, additional, Bocquet, Béatrice, additional, Boon, Camiel J.F., additional, Brézin, Antoine, additional, Roziers, Cyril Burin des, additional, Burkitt-Wright, Emma, additional, Callea, Michele, additional, Carbonelli, Michele, additional, Carelli, Valerio, additional, Cehajic-Kapetanovic, Jasmina, additional, Chandler, Kate E., additional, Chandra, Aman, additional, Clayton-Smith, Jill, additional, Colijn, Johanna M., additional, Coppieters, Frauke, additional, A. Cukras, Catherine, additional, Daly, Avril, additional, De Baere, Elfride, additional, De Zaeytijd, Julie, additional, Borman, Arundhati Dev, additional, Dollfus, Hélène, additional, Houge, Sofia Douzgou, additional, Engle, Elizabeth C., additional, Escher, Pascal, additional, Evans, D. Gareth, additional, Fahnehjelm, Kristina Teär, additional, Fasser, Christina, additional, Fiore, Mathieu, additional, Fujinami, Kaoru, additional, Fujinami-Yokokawa, Yu, additional, Gallie, Brenda L., additional, Georgiou, Michalis, additional, Gliem, Martin, additional, Grudzinska Pechhacker, Monika K., additional, Hall, Georgina, additional, Harmening, Wolf M., additional, Henderson, Robert H., additional, Héon, Elise, additional, Hirji, Nashila, additional, Holz, Frank G., additional, A. Huryn, Laryssa, additional, Jones, Elizabeth A., additional, Kalatzis, Vasiliki, additional, Khan, Arif O., additional, Kim, Ungsoo S., additional, Klaver, Caroline C.W., additional, Kumaran, Neruban, additional, La Morgia, Chiara, additional, Lalloo, Fiona, additional, Lasseaux, Eulalie, additional, Lee, Helena, additional, Lenaers, Guy, additional, Lenassi, Eva, additional, Leroy, Bart P., additional, Liskova, Petra, additional, Lloyd, I. Christopher, additional, MacLaren, Robert E., additional, Mahroo, Omar A., additional, Mejia-Vergara, Alvaro J., additional, Meunier, Isabelle, additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Moosajee, Mariya, additional, Morice-Picard, Fanny, additional, Munier, Francis L., additional, Neveu, Magella M., additional, O'Neil, Erin C., additional, Nordenström, Anna, additional, Parry, Neil R.A., additional, Patrício, Maria I., additional, Parulekar, Manoj V., additional, Ram, Dipak, additional, Ramsden, Simon C., additional, Robitaille, Johane, additional, Robson, Anthony G., additional, Rothschild, Pierre-Raphaël, additional, Sadun, Alfredo A., additional, Schuerch, Kaspar, additional, Seabra, Miguel C., additional, Self, Jay E., additional, Sergouniotis, Panagiotis I., additional, Shaya, Fadi, additional, Sieving, Paul A., additional, Strubbe, Ine, additional, Simonelli, Francesca, additional, Small, Kent W., additional, Snead, Martin P., additional, Stepien, Karolina M., additional, Talib, Mays, additional, Taylor, Rachel L., additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Traboulsi, Elias I., additional, Tran, Viet H., additional, Vaclavik, Veronika, additional, Valleix, Sophie, additional, Van Cauwenbergh, Caroline, additional, Van Schil, Kristof, additional, Whitman, Mary C., additional, Willoughby, Colin E., additional, Xue, Kanmin, additional, Yang, Jingyan, additional, Yu-Wai-Man, Patrick, additional, Zeitz, Christina, additional, and Zinkernagel, Martin, additional

Published
2022
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13. Shifting paradigms in retinopathy of prematurity treatment: The promise and challenges of biosimilars.

Author

Henderson, Robert H. and Warda, Omar

Subjects
*VASCULAR endothelial growth factors, *SCOTOMA, *PREMATURE infants, *RESOURCE-limited settings, *RETROLENTAL fibroplasia, *AUDIOMETRY, *NEURODEVELOPMENTAL treatment for infants
Abstract

The article discusses the use of biosimilars, specifically Bevacizumab‐awwb, for the treatment of retinopathy of prematurity (ROP) due to the original monoclonal supply being halted. It highlights the potential cost savings and challenges associated with biosimilars, emphasizing the need for long-term surveillance and backup laser treatment. The study explores the safety and efficacy of Bevacizumab‐awwb compared to the original molecule, raising questions about its effectiveness. Despite concerns, biosimilars are expected to play a significant role in improving access to care for ROP treatment in various settings. [Extracted from the article]

Published
2024
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14. RDH12 retinopathy: novel mutations and phenotypic description.

Author

Mackay, Donna S, Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H, Li, Zheng, Wright, Genevieve A, Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A, Bhattacharya, Shomi S, Holder, Graham E, Webster, Andrew R, and Moore, Anthony T

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Clinical Research, Brain Disorders, Neurodegenerative, Genetics, Biotechnology, Eye Disease and Disorders of Vision, Neurosciences, Pediatric, Eye, Age of Onset, Alcohol Oxidoreductases, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Exons, Eye Proteins, Female, Genetic Linkage, Genetic Testing, Genotype, Humans, Infant, Leber Congenital Amaurosis, Male, Mutation, Oligonucleotide Array Sequence Analysis, Pedigree, Phenotype, Polymerase Chain Reaction, Retina, Retinal Degeneration, Retinitis Pigmentosa, United Kingdom, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

PurposeTo identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype.MethodsAfter giving informed consent, all patients underwent full clinical evaluation. Patients were selected for mutation analysis based upon positive results from the Asper Ophthalmics Leber congenital amaurosis arrayed primer extansion (APEX) microarray screening, linkage analysis, or their clinical phenotype. All coding exons of RDH12 were screened by direct Sanger sequencing. Potential variants were checked for segregation in the respective families and screened in controls, and their pathogenicity analyzed using in silico prediction programs.ResultsScreening of 389 probands by the APEX microarray and/or direct sequencing identified bi-allelic mutations in 29 families. Seventeen novel mutations were identified. The phenotype in these patients presented with a severe early-onset rod-cone dystrophy. Funduscopy showed severe generalized retinal pigment epithelial and retinal atrophy, which progressed to dense, widespread intraretinal pigment migration by adulthood. The macula showed severe atrophy, with pigmentation and yellowing, and corresponding loss of fundus autofluorescence. Optical coherence tomography revealed marked retinal thinning and excavation at the macula.ConclusionsRDH12 mutations account for approximately 7% of disease in our cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. The clinical features of this disorder are highly characteristic and facilitate candidate gene screening. The term RDH12 retinopathy is proposed as a more accurate description.

Published
2011

15. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Author

Mackay, Donna S, Henderson, Robert H, Sergouniotis, Panagiotis I, Li, Zheng, Moradi, Phillip, Holder, Graham E, Waseem, Naushin, Bhattacharya, Shomi S, Aldahmesh, Mohammed A, Alkuraya, Fowzan S, Meyer, Brian, Webster, Andrew R, and Moore, Anthony T

Subjects
Fundus Oculi, Humans, Retinitis Pigmentosa, Genetic Predisposition to Disease, Receptor Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Electrophoresis, Agar Gel, Polymerase Chain Reaction, Pedigree, DNA Mutational Analysis, Family, Age of Onset, Haplotypes, Mutation, Polymorphism, Single Nucleotide, Genome, Human, Exons, Adolescent, Adult, Child, Female, Male, Young Adult, Leber Congenital Amaurosis, c-Mer Tyrosine Kinase, Electrophoresis, Agar Gel, Polymorphism, Single Nucleotide, Genome, Human, Ophthalmology & Optometry, Opthalmology and Optometry
Abstract

PurposeTo report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene.MethodsA consanguineous family of Middle Eastern origin was identified, and affected members underwent a full clinical evaluation. Linkage analysis was performed using the Affymetrix 50K chip. Regions of homozygosity were identified. The positional candidate genes protocadherin 21 (PCDH21), retinal G protein-coupled receptor (RGR), and MERTK were polymerase chain reaction (PCR) amplified and sequenced. Long-range PCR was performed to characterize the deletion. Two hundred and ninety-two probands with autosomal recessive, childhood onset, retinal dystrophies were analyzed using the Asper Ophthalmics Leber congenital amaurosis chip to screen for known MERTK mutations.ResultsAnalysis of a 50K-Affymetrix whole genome scan identified three regions of homozygosity on chromosomes 2 and 10. Screening of the candidate gene MERTK showed a possible deletion of exon 8. Long-range PCR identified a ~9 kb deletion within MERTK that removes exon 8. Screening of DNA from a panel of Saudi Arabian patients with autosomal recessive retinitis pigmentosa identified a second consanguineous family with the same mutation. One patient with a known MERTK mutation (p.R651X) was identified using the Asper Ophthalmics Leber congenital amaurosis chip. Further screening of the gene identified a second novel splice site mutation in intron 1. The phenotype associated with these identified MERTK mutations is of a childhood onset rod-cone dystrophy with early macular atrophy. The optical coherence tomography (OCT) appearance is distinctive with evidence of debris beneath the sensory retina.ConclusionsMutations in MERTK are a rare cause of retinal dystrophy. Non homologous recombination between Alu Y repeats near or within disease genes may be an important cause of retinal dystrophies.

Published
2010

16. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

Author

Henderson, Robert H, Li, Zheng, Abd El Aziz, Mai M, Mackay, Donna S, Eljinini, Mohammad A, Zeidan, Marwan, Moore, Anthony T, Bhattacharya, Shomi S, and Webster, Andrew R

Subjects
Fundus Oculi, Humans, Retinal Degeneration, Cadherins, Nerve Tissue Proteins, Electroretinography, Pedigree, DNA Mutational Analysis, Family, Chromosome Segregation, Amino Acid Sequence, Base Sequence, Protein Structure, Tertiary, Mutation, Alleles, Exons, Models, Molecular, Molecular Sequence Data, Adult, Female, Male, Protein Structure, Tertiary, Models, Molecular, Ophthalmology & Optometry, Opthalmology and Optometry
Abstract

PurposeTo describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene.MethodsA full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional candidate genes were identified and sequenced. All patients had a detailed ophthalmic examination, including electroretinography and retinal imaging.ResultsAffected members of both families showed identical homozygosity for an overlapping region of chromosome 10q. Sequencing of a candidate gene, PCDH21, showed two separate homozygous single-base deletions, c.337delG (p.G113AfsX1) and c.1459delG (p.G487GfsX20), which were not detected in 282 control chromosomes. Affected members of the two families first reported nyctalopia in late teenage years and retained good central vision until their late 30s. No color vision was detected in any proband. The fundus appearance included the later development of characteristic circular patches of pigment epithelial atrophy at the macula and in the peripheral retina.ConclusionsBiallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans.

Published
2010

17. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Author

Henderson, Robert H, Williamson, Kathleen A, Kennedy, Joanna S, Webster, Andrew R, Holder, Graham E, Robson, Anthony G, FitzPatrick, David R, van Heyningen, Veronica, and Moore, Anthony T

Subjects
Fundus Oculi, Humans, Pituitary Diseases, Retinal Diseases, Codon, Nonsense, Electroretinography, DNA Mutational Analysis, Age of Onset, Base Sequence, Phenotype, Molecular Sequence Data, Child, Infant, Infant, Newborn, Scotland, Male, Otx Transcription Factors, Codon, Nonsense, Newborn, Ophthalmology & Optometry, Opthalmology and Optometry
Abstract

PurposeTo describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases.MethodsUsing direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or early onset retinal dystrophy (EORD), for mutations in OTX2. All patients received a detailed ophthalmic examination including electroretinography and retinal imaging.ResultsOnly one mutation in OTX2 was identified. A novel heterozygous p.S138X stop mutation was identified in a seven-year-old male who had an infantile onset retinal dystrophy. The mutation was not present in either parent or in 181 blood donor samples. There was a history of failure to thrive in infancy, poor feeding, and growth hormone deficiency. Poor vision and nyctalopia was present from the first year. Funduscopy revealed a hyperpigmented peripapillary ring with a fine granular pigmentation of the RPE throughout the fundus. The scotopic bright flash ERG a-wave was subnormal and the waveform electronegative, in keeping with dysfunction both at the level of the photoreceptor and post-phototransduction. Visual function has been stable to date.ConclusionsMutations in OTX2 have been reported in association with major developmental malformations of the eye, with retinal dystrophies such as LCA, and with pituitary dysfunction and seizure activity in some cases. This case adds further support for a role of OTX2 both in retinal development and pituitary function, and highlights a novel retinal dystrophy phenotype seen in association with mutations in OTX2.

Published
2009

20. Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study

Author

Yonekawa, Yoshihiro, Wu, Wei-Chi, Kusaka, Shunji, Robinson, Joshua, Tsujioka, Daishi, Kang, Kai B., Shapiro, Michael J., Padhi, Tapas R., Jain, Lubhani, Sears, Jonathan E., Kuriyan, Ajay E., Berrocal, Audina M., Quiram, Polly A., Gerber, Amanda E., Paul Chan, R.V., Jonas, Karyn E., Wong, Sui Chien, Patel, C.K., Abbey, Ashkan M., Spencer, Rand, Blair, Michael P., Chang, Emmanuel Y., Papakostas, Thanos D., Vavvas, Demetrios G., Sisk, Robert A., Ferrone, Philip J., Henderson, Robert H., Olsen, Karl R., Hartnett, M. Elizabeth, Chau, Felix Y., Mukai, Shizuo, Murray, Timothy G., Thomas, Benjamin J., Meza, P. Anthony, Drenser, Kimberly A., Trese, Michael T., and Capone, Antonio, Jr.

Published
2016
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29. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author

Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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36. Contributors

Author

Abrams, Gary W., Afshar, Armin R., Agarwal, Aniruddha, Agarwal, Anita, Ahmed, Ishrat, Aiello, Lloyd Paul, Ajlan, Radwan S., Albert, Daniel M., Andreoli, Michael T., Arepalli, Sruthi, Aronow, Mary E., Ashraf, Mohamed, Au, Adrian, Ávila, Marcos, Aylward, G. William, Bagger, Mette M., Balaratnasingam, Chandrakumar, Barry, Robert J., Belfort, Rubens, Jr., Bennett, Jean, Berry, Jesse L., Besirli, Cagri G., Bessette, Angela, Bharti, Kapil, Bhende, Muna, Bhende, Pramod S., Binder, Susanne, Binkley, Elaine M., Bird, Alan C., Blumenkranz, Mark S., Boldt, H. Culver, Boon, Camiel Jan Fons, Borrelli, Enrico, Boulton, Michael E., Brantley, Milam A., Jr., Bressler, Neil M., Bressler, Susan B., Bringmann, Andreas, Brinton, Daniel A., Brown, Gary C., Brown, Melissa M., Brunner, Simon, Budoff, Greg, Bujakowska, Kinga M., Canto-Soler, M. Valeria, Cao, Dingcai, Capone, Antonio, Jr., Carroll, Joseph, Carruthers, David, Caspi, Rachel R., Chaikitmongkol, Voraporn, Chan, Hwei Wuen, Chang Chusan, Yuilyn A., Charles, Steve, Charteris, David G., Chen, Jeannie, Chen, Judy J., Cheung, Carol Y., Cheung, Chui Ming Gemmy, Chew, Emily Y., Chhablani, Jay, Chiang, Michael F., Chon, Brian, Clegg, Dennis O., Comander, Jason, Corradetti, Giulia, Coupland, Sarah E., Cozzi, Mariano, Cruess, Alan F., Cunningham, Emmett T., Jr., Curcio, Christine A., Damato, Bertil E., Davis, Janet L., Davoudi, Samaneh, Ghafoori, Shelley Day, Denniston, Alastair K., de Smet, Marc D., Zaeytijd, Julie De, Dhaliwal, Ranjit S., Dick, Andrew D., Ding, Xiaoyan, Do, Diana V., Dugel, Pravin, Duker, Jay S., Dunbar, Hannah M.P., Duncan, Jacque L., Ehlers, Justis P., Eldred, Kiara C., Eliott, Dean, Wardani, Mohamad El, Engelbert, Michael, Faia, Lisa J., Falsini, Benedetto, Fekrat, Sharon, Ferrington, Deborah A., Ferris, Frederick L., III, Finger, Paul T., Fisher, Steven K., Fisher, Yale L., Fishman, Gerald A., Fleckenstein, Monika, Flynn, Harry W., Jr., Francelin, Carolina, Francis, Jasmine H., Freeman, William R., Freund, K. Bailey, Fu, Arthur D., Garcia-Valenzuela, Enrique, Garg, Sunir J., Gaudric, Alain, Gayed, Mary, George, Roshan T., Goldberg, Morton F., Gopal, Lingam, Gordon, Caroline, Goto, Hiroshi, Gragoudas, Evangelos S., Grant, Maria B., Gregg, Ronald G., Gregory-Evans, Kevin, Groenewald, Carl, Grossniklaus, Hans E., Grover, Sandeep, Gullapalli, Vamsi K., Hahn, Paul, Haller, Julia A., Han, Ian C., Handa, James T., Haritoglou, Christos, Haug, Sara, Hawkins, Barbara S., He, Shikun, Heimann, Heinrich, Henderson, Robert H., Herwig-Carl, Martina C., Heussen, Florian M.A., Hisatomi, Toshio, Holder, Graham E., Holz, Frank G., Hou, Kirk K., Hui, Yan-Nian, Humayun, Mark S., Idrees, Sana, Ikuno, Yasushi, Invernizzi, Alessandro, Ip, Michael S., Isaac, David L.C., Ishibashi, Tatsuro, Ishikawa, Keijiro, Jabs, Douglas A., Jaffe, Glenn J., Jager, Martine J., Jampol, Lee M., Jeng-Miller, Karen, Joffe, Leonard, Johnson, Mark, Johnson, Mark W., Johnson, Robert N., Joussen, Antonia M., Jumper, J. Michael, Jung, Jesse J., Kaiser, Peter K., Kamermans, Maarten, Kampik, Anselm, Karanjia, Rustum, Kashani, Amir H., Keane, Pearse A., Kenney, M. Cristina, Kiilgaard, Jens F., Kiliç, Emine, Kim, Ivana K., Kim, Jonathan W., Kim, Leo A., Kim, Stephen J., Kiss, Szilárd, Klufas, Michael A., Konstantinidis, Lazaros, Koronyo-Hamaoui, Maya, Kowluru, Renu, Kozak, Igor, Kuriyan, Ajay E., Lam, Dennis Shun Chiu, Lam, Linda A., Lane, Anne Marie, Lavik, Erin B., Leary, James F., Ledesma-Gil, Gerardo, Lee, Aaron Y., Lee, Richard W., Lee, Sun Young, Lee, Thomas C., Lee, Won Ki, Leung, Loh-Shan B., Lewis, Geoffrey P., Leys, Anita, Li, Xiaoxin, Liakopoulos, Sandra, Lin, Chang-Ping, Lin, Phoebe, Lin, Xihui, Lois, Noemi, London, Nikolas J.S., Luo, Yan, Lutty, Gerard A., MacLaren, Robert E., Maguire, Albert M., Mahroo, Omar A., Mainster, Martin A., Markoe, Arnold M., Marmor, Michael F., Massey, Stephen C., McCall, Maureen A., McCannel, Tara A., McCutchan, J. Allen, McDonald, H. Richard, Meier, Petra, Meredith, Travis A., Meyer, Carsten H., Mieler, William F., Miller, Joan W., Mirza, Rukhsana G., Mittra, Robert A., Montemagno, Carlo, Moore, Anthony T., Mruthyunjaya, Prithvi, Muccioli, Cristina, Mullins, Robert F., Murphree, A. Linn, Murray, Philip I., Murray, Timothy G., Nagiel, Aaron, Nagpal, Manish, Namperumalsamy, Perumalsamy, Nanda, Sumit K., Narala, Ramsudha, Nascimento, Heloisa, Nashine, Sonali, Nguyen, Quan Dong, Oellers, Patrick, Ohji, Masahito, Ohno-Matsui, Kyoko, Palanker, Daniel, Papakostas, Thanos D., Park, Tea Soon, Park, Un Chul, Patel, Purnima S., Patel, Shriji, Pavlick, Anna C., Peereboom, David M., Pellegrini, Marco, Peng, Michelle, Pennesi, Mark E., Pepple, Kathryn L., Perry, Julian D., Pertile, Grazia, Priglinger, Siegfried, Preziosa, Chiara, Pulido, Jose S., Querques, Giuseppe, Quiram, Polly A., Radke, Nishant Vijay, Raja, Vignesh, Raman, Rajiv, Ramchandran, Rajeev S., Rao, Narsing A., Rao, P. Kumar, Rathinam, SR, Raval, Vishal, Reed, David, Reh, Thomas A., Rezaei, Kourous A., Rhodes, Benjamin, Ritch, Robert, Robson, Anthony G., Rodrigues, Eduardo B., Rowan, Sheldon, Rowland, Teisha J., Rubin, Gary S., Sadda, SriniVas R., Sadun, Alfredo A., Sakamoto, Taiji, Sampath, Alapakkam P., Sangave, Amit A., Sarraf, David, Schachat, Andrew P., Schechet, Sidney A., Schmitz-Valckenberg, Steffen, Schwartz, Stephen G., Scott, Adrienne W., Sebag, J., Seddon, Johanna M., Segrè, Ayellet V., Sepah, Yasir Jamal, Sharma, Sanjay, Sharma, Sumit, Sharma, Tarun, Sheu, Shwu-Jiuan, Shields, Carol L., Shields, Jerry A., Shukla, Dhananjay, Sieving, Paul A., Silva, Paolo S., Silverman, Ronald H., Singer, Joshua, Singh, Arun D., Singh, Nakul, Skalet, Alison H., Skugor, Mario, Smith, Sylvia B., Sobrin, Lucia, Sohn, Elliott H., Souied, Eric H., Spaide, Richard F., Spencer, Doran, Spielberg, Leigh, Sridhar, Akshayalakshmi, Srivastava, Sunil K., Starr, Matthew R., Staurenghi, Giovanni, Stern, Marc-Henri, Sternberg, Paul, Jr., Stiefel, Hillary C., Stitt, Alan W., Stone, Edwin M., Strettoi, Enrica, Sugino, Ilene K., Sullivan, Paul, Sun, Jennifer K., Sunness, Janet S., Tadayoni, Ramin, Tang, Shibo, Taylor, Allen, Terasaki, Hiroko, Thompson, John T., Ting, Daniel S.W., Toro, Mario D., Toth, Cynthia A., Toy, Brian, Trese, Michael T., Tsai, Julie H., Tsang, Stephen H., Tufail, Adnan, Tummala, Gayathri, Udar, Nitin, Ueta, Takashi, Ulrich, J. Niklas, Umfress, Allison C., van Dijk, Elon Hendrik Cornelis, van Meurs, Jan C., Vasconcelos-Santos, Daniel Vítor, Vavvas, Demetrios G., Venkat, Arthi, Waheed, Nadia K., Warner, Nathaniel C., Wickham, Louisa, Wiedemann, Peter, Wiley, Henry E., Wilkinson, C.P., Wolf, Sebastian, Wolfensberger, Thomas J., Wong, Tien Yin, Wu, Yue, Yandiev, Yanors, Yang, Chang-Hao, Yang, Chung-May, Yang, Paul, Yeh, Po-Ting, Yonekawa, Yoshihiro, Yoon, Young Hee, Yordi, Sari, Yu, Hyeong Gon, Yue, Lan, Zarbin, Marco A., Zhu, Ivy, and Zinkernagel, Martin

Published
2023
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37. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author

Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, and Promovendi CD

Subjects
0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors
Abstract

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1–3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans. © 2020, The Author(s), under exclusive licence to Springer Nature Limited., Wellcome Trust, WT: 104807/Z/14/Z University College London, UCL: 100140/Z/12/Z, 107212/Z/15/Z, MR/L019027, 203141/Z/16/Z, 091157/Z/10/Z Bundesministerium für Bildung und Forschung, BMBF: 01ZX1306A University of Cambridge 201250/Z/16/Z 01ZX1709 Seventh Framework Programme, FP7 NIHR Bristol Biomedical Research Centre Deutsche Forschungsgemeinschaft, DFG Deutsche Forschungsgemeinschaft, DFG: EXC 2167-390884018 Juvenile Diabetes Research Foundation United Kingdom, JDRF: 9-2011-253, 5-SRA-2015-130-A-N National Institute for Health Research, NIHR: RG65966 Medical Research Council, MRC: RG95376, MR/L006197/1 Great Ormond Street Hospital for Children, GOSH, Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC.

Published
2020
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38. Reducing stress.

Author

Henderson, Robert H.

Subjects
Stress management -- Methods
Published
2008

39. New variants and in silico analyses in GRK1 associated Oguchi disease.

Author

Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., and Rivolta, Carlo

Abstract

Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioinformatic analyses to evaluate how their impact on protein structure could lead to pathogenicity. Patients' genomic DNA was sequenced by whole genome, whole exome or focused exome sequencing. Disease associated variants, published and novel, were compared to nondisease associated missense variants. The impact of GRK1 missense variants at the protein level were then predicted using a series of computational tools. We identified twelve previously unpublished cases with biallelic disease associated GRK1 variants, including eight novel variants, and reviewed all GRK1 disease associated variants. Further structure‐based scoring revealed a hotspot for missense variants in the kinase domain. In addition, to aid future clinical interpretation, we identified the bioinformatics tools best able to differentiate disease associated from nondisease associated variants. We identified GRK1 variants in Oguchi disease patients and investigated how disease‐causing variants may impede protein function in‐silico. [ABSTRACT FROM AUTHOR]

Published
2021
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40. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.

Author

Hay, Eleanor, Henderson, Robert H., Mansour, Sahar, Deshpande, Charu, Jones, Rachel, Nutan, Savita, Mankad, Kshitij, Young, Rodrigo M., Moosajee, Mariya, Research Consortium, Genomics England, and Arno, Gavin

Subjects
*NEUROMYELITIS optica, *FACE, *CONGENITAL heart disease, *DEVELOPMENTAL delay, *GENETIC testing, *INTELLECTUAL disabilities
Abstract

Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterises the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilateral iris and retinal coloboma, developmental delay and additional, variable multisystem features. The variants fall within a highly conserved region upstream of the WD‐repeat domains, within an apparent mutation cluster. Consistent with the literature, intellectual disability, structural eye disorders, epilepsy, congenital heart disease, genitorenal anomalies and dysmorphic facial features were observed. In addition, a broader developmental profile is reported with a more specific musculoskeletal phenotype described in association with the novel variant (p.Thr115Ile). We further expand the phenotypic spectrum of WDR37‐related disorders to include those with milder developmental delay and strengthen the association of ocular coloboma and musculoskeletal features. We promote the inclusion of WDR37 on gene panels for intellectual disability, epilepsy and structural eye disorders. [ABSTRACT FROM AUTHOR]

Published
2020
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43. Accuracy of scleral transillumination techniques to identify infant ciliary body for sclerostomy and intravitreal injections.

Author

Sharma, Abhishek, Ali, Asim, Henderson, Robert H., Patel, C. K., VandenHoven, Cynthia, and Lam, Wai‐Ching

Subjects
CILIARY body, TRANSILLUMINATION, INFANTS, INJECTIONS, RETINAL injuries, RETINAL surgery
Abstract

Importance There is variation in the literature for sclerotomy and intravitreal injection placement in young children, ranging from 0.5 to 3.0 mm from the limbus. We assess the accuracy of scleral transillumination to identify the ciliary body in infants for safe sclerotomy and intravitreal injections in young children. Background: The study compares the perilimbal "dark band" seen on scleral transillumination (STI) with the ultrasound biomicroscopy (UBM), and compares these measurements with the current guidelines for sclerotomy in infants. Design Prospective case series in a tertiary paediatric hospital. Participants: Children aged ≤36 months undergoing general anaesthesia for eye procedures. Methods: Scleral transillumination was performed to measure the perilimbal dark band. UBM of the ciliary body region was then performed, and correlated with transillumination findings. Main Outcome Measures: The midpoints of STI and UBM were compared to current cadaver‐based guidelines to assess the safe point for sclerotomy. Results: Twenty children were recruited, 36 STI and 35 UBM measurements were obtained. The posterior edge of the dark band had good correlation with the posterior border of the ciliary body. Transillumination and UBM correlated well for midpoint measurements. The midpoint of the dark band on transillumination was confirmed to be in the ciliary body by UBM in all cases. Conclusions and Relevance: The STI technique is a useful and fast technique to demonstrate the ciliary body. The midpoint of the dark band on STI correlates well with the UBM, and has a potential use for confirming safe‐entry into the posterior segment if using current guidelines. The current cadaver‐based paediatric guidelines safely avoid retinal injury. [ABSTRACT FROM AUTHOR]

Published
2019
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44. Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

Author

British Retinitis Pigmentosa Society, Department of Health & Social Care (UK), Wellcome Trust, Medical Research Council (UK), Foundation Fighting Blindness, University College London, Bainbridge, James W. B., Smith, Alexander J., Barker, Susie S., Robbie, Scott, Henderson, Robert H., Balaggan, Kamaljit, Viswanathan, Ananth, Holder, Graham E., Stockman, Andrew, Tyler, Nick, Petersen-Jones, Simon, Bhattacharya, Shom Shanker, Thrasher, Adrián J., Fitzke, Fred W., Carter, Barrie J., Rubin, Gary S., Moore, Anthony T., Ali, Robin R., British Retinitis Pigmentosa Society, Department of Health & Social Care (UK), Wellcome Trust, Medical Research Council (UK), Foundation Fighting Blindness, University College London, Bainbridge, James W. B., Smith, Alexander J., Barker, Susie S., Robbie, Scott, Henderson, Robert H., Balaggan, Kamaljit, Viswanathan, Ananth, Holder, Graham E., Stockman, Andrew, Tyler, Nick, Petersen-Jones, Simon, Bhattacharya, Shom Shanker, Thrasher, Adrián J., Fitzke, Fred W., Carter, Barrie J., Rubin, Gary S., Moore, Anthony T., and Ali, Robin R.

Abstract

Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium–specific 65-kD protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood. We administered to three young adult patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter. There were no serious adverse events. There was no clinically significant change in visual acuity or in peripheral visual fields on Goldmann perimetry in any of the three patients. We detected no change in retinal responses on electroretinography. One patient had significant improvement in visual function on microperimetry and on dark-adapted perimetry. This patient also showed improvement in a subjective test of visual mobility. These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747.)

Published
2008

45. An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

Author

Henderson, Robert H., Bhattacharya, Shom Shanker, Moore, Anthony T., Henderson, Robert H., Bhattacharya, Shom Shanker, and Moore, Anthony T.

Abstract

[Purpose]: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip may be used to interrogate many variants in one hybridization reaction. The purpose of this study was to assess the utility of this technology. [Methods]: One hundred fifty-three patients with LCA and EOSRD were screened using an array (Asper Ophthalmics, Tartu, Estonia) containing 344 published disease-causing variants and polymorphisms in eight genes: AIPL1, GUCY2D, CRB1, CRX, RPGRIP1, RPE65, MERTK, and LRAT. One hundred thirty-six probands underwent bidirectional sequencing of the full coding region of the RPE65 gene. The same technique was also used to confirm CRB1 and AIPL1 mutations initially identified with the Apex chip (Asper Ophthalmics). Single nucleotide polymorphism (SNP) analysis within control populations was performed for two variants, P701S and W21R, on the chip for GUCY2D. [Results]: Of the possible 109,392 interrogations, 3,346 (3.06%) failed on one strand whereas 259 (0.47%) failed on both. The chip reported mutations in 68 (44%) patients; 26 patients had two alleles identified (17%). Direct sequencing of RPE65 showed no discrepancies, whereas sequencing of AIPL1 and CRB1 revealed seven samples called erroneously. The SNP analysis of both GUCY2D variants revealed equal prevalence in the EOSRD panel and the normal population. Subsequent reanalysis, after excluding these polymorphisms, revealed one (18.3%) or two (11.7%) mutations identified in 46 patients. When evaluated by diagnosis, 46% of patients with LCA had one or two mutations identified, compared with 24% of patients with EOSRD. [Conclusions]: This approach is a rapid and reasonably low-cost technique for identifying both previously identified mutations and common polymorphisms. The addition of further genes and mutations to the chip will improve its utility, though it is advised that all results be checked by direct se

Published
2007

46. I will not take the oath (unless I really have to).

Author

Henderson, Robert H.

Subjects
Oaths -- Evaluation, Race discrimination -- Evaluation, Equality before the law -- Evaluation, Multiculturalism -- Laws, regulations and rules, Government regulation
Published
2004

48. Early Onset Retinal Dystrophy Due to Mutations inLRAT: Molecular Analysis and Detailed Phenotypic Study

Author

Dev Borman, Arundhati, primary, Ocaka, Louise A., additional, Mackay, Donna S., additional, Ripamonti, Caterina, additional, Henderson, Robert H., additional, Moradi, Phillip, additional, Hall, Georgina, additional, Black, Graeme C., additional, Robson, Anthony G., additional, Holder, Graham E., additional, Webster, Andrew R., additional, Fitzke, Fred, additional, Stockman, Andrew, additional, and Moore, Anthony T., additional

Published
2012
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49. Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Author

Tan, Mei Hong, primary, Mackay, Donna S., additional, Cowing, Jill, additional, Tran, Hoai Viet, additional, Smith, Alexander J., additional, Wright, Genevieve A., additional, Dev-Borman, Arundhati, additional, Henderson, Robert H., additional, Moradi, Phillip, additional, Russell-Eggitt, Isabelle, additional, MacLaren, Robert E., additional, Robson, Anthony G., additional, Cheetham, Michael E., additional, Thompson, Dorothy A., additional, Webster, Andrew R., additional, Michaelides, Michel, additional, Ali, Robin R., additional, and Moore, Anthony T., additional

Published
2012
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50. Screening ofSPATA7in Patients with Leber Congenital Amaurosis and Severe Childhood-Onset Retinal Dystrophy Reveals Disease-Causing Mutations

Author

Mackay, Donna S., primary, Ocaka, Louise A., additional, Borman, Arundhati Dev, additional, Sergouniotis, Panagiotis I., additional, Henderson, Robert H., additional, Moradi, Phillip, additional, Robson, Anthony G., additional, Thompson, Dorothy A., additional, Webster, Andrew R., additional, and Moore, Anthony T., additional

Published
2011
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