Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl Az, Kwasniewska, Alexandra, Davies, Wayne Il, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew Om, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H
Published in European journal of human genetics : EJHG (01.03.2013)
Published in European journal of human genetics : EJHG (01.03.2013)
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Journal Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
Al-Khuzaei, Saoud, Hudspith, Karl A Z, Broadgate, Suzanne, Shanks, Morag E, Clouston, Penny, Németh, Andrea H, Halford, Stephanie, Downes, Susan M
Published in BMC ophthalmology (09.04.2021)
Published in BMC ophthalmology (09.04.2021)
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Journal Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
NEMETH, Andrea H, KWASNIEWSKA, Alexandra C, TALBOT, Kevin, DE SILVA, Rajith, FLETCHER, Nicholas, HASTINGS, Rob, JAYAWANT, Sandeep, MORRISON, Patrick J, WORTH, Paul, TAYLOR, Malcolm, TOLMIE, John, O'REGAN, Mary, LISE, Stefano, VALENTINE, Ruth, PACKHAM, Emily, EVANS, Julie, SELLER, Anneke, RAGOUSSIS, Jiannis, SCHNEKENBERG, Ricardo Parolin, BECKER, Esther B. E, BERA, Katarzyna D, SHANKS, Morag E, GREGORY, Lorna, BUCK, David, ZAMEEL CADER, M
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Journal Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Journal Article
Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS
Cundy, Olivia, Broadgate, Suzanne, Halford, Stephanie, MacLaren, Robert E., Shanks, Morag E., Clouston, Penny, Gilhooley, Michael J., Downes, Susan M.
Published in Eye (London) (01.05.2021)
Published in Eye (London) (01.05.2021)
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Journal Article
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
Yusuf, Imran H, Shanks, Morag E, Clouston, Penny, MacLaren, Robert E
Published in Ophthalmic genetics (01.04.2018)
Published in Ophthalmic genetics (01.04.2018)
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Journal Article
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration
Cehajic-Kapetanovic, Jasmina, Birtel, Johannes, McClements, Michelle E, Shanks, Morag E, Clouston, Penny, Downes, Susan M, Charbel Issa, Peter, MacLaren, Robert E
Published in JAMA network open (05.06.2019)
Published in JAMA network open (05.06.2019)
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Journal Article
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration
Borchert, Grace A, Shanks, Morag E, Whitfield, Jennifer, Clouston, Penny, Raji, Shabnam, Sperring, Sian, Thompson, Jennifer A, Xue, Kanmin, De Silva, Samantha R, Downes, Susan M, MacLaren, Robert E, Cehajic-Kapetanovic, Jasmina
Published in Ophthalmic genetics (04.09.2024)
Published in Ophthalmic genetics (04.09.2024)
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Journal Article
Getting rhythm: how do babies do it?
Joseph, Desaline, Chong, Nelson W, Shanks, Morag E, Rosato, Ezio, Taub, Nick A, Petersen, Stewart A, Symonds, Michael E, Whitehouse, William P, Wailoo, Michael
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.2015)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.2015)
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Journal Article
Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin
Davies, Wayne I.L., Downes, Susan M., Fu, Josephine K., Shanks, Morag E., Copley, Richard R., Lise, Stefano, Ramsden, Simon C., Black, Graeme C. M., Gibson, Kate, Foster, Russell G., Hankins, Mark W., Németh, Andrea H.
Published in Genetics in medicine (01.11.2012)
Published in Genetics in medicine (01.11.2012)
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Journal Article
A mini-library of sequenced human DNA fragments: linking bench experiments with informatics
Dalgleish, Raymond, Shanks, Morag E., Monger, Karen, Butler, Nicola J.
Published in Journal of biological education (01.09.2012)
Published in Journal of biological education (01.09.2012)
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Journal Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl A Z, Kwasniewska, Alexandra, Davies, Wayne I L, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew O M, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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Journal Article
The effects of in utero irradiation on mutation induction and transgenerational instability in mice
Barber, Ruth C, Hardwick, Robert J, Shanks, Morag E, Glen, Colin D, Mughal, Safeer K, Voutounou, Mariel, Dubrova, Yuri E
Published in Mutation research (12.05.2009)
Published in Mutation research (12.05.2009)
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Journal Article
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.
Published in Movement disorders (01.01.2024)
Published in Movement disorders (01.01.2024)
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Journal Article
Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis
Shanks, Morag E, May, Celia A, Dubrova, Yuri E, Balaresque, Patricia, Rosser, Zoë H, Adams, Susan M, Jobling, Mark A
Published in Mutation research (15.12.2008)
Published in Mutation research (15.12.2008)
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Journal Article
Erratum: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl A Z, Kwasniewska, Alexandra, Davies, Wayne I L, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew O M, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H
Published in European journal of human genetics : EJHG (15.08.2013)
Published in European journal of human genetics : EJHG (15.08.2013)
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