Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study von Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R, Bateman, Mark, Best, Sunayna K, Campbell, Carolyn, Carey, Georgina, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth

Volltext

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes von Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C, Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz

Volltext

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease von Ellingford, Jamie M., MRes, Barton, Stephanie, BSc, Bhaskar, Sanjeev, MSc, Williams, Simon G., PhD, Sergouniotis, Panagiotis I., PhD, O'Sullivan, James, BSc, Lamb, Janine A., DPhil, Perveen, Rahat, BSc, Hall, Georgina, MSc, Newman, William G., PhD, Bishop, Paul N., PhD, Roberts, Stephen A., PhD, Leach, Rick, PhD, Tearle, Rick, PhD, Bayliss, Stuart, BSc, Ramsden, Simon C., PhD, Nemeth, Andrea H., DPhil, Black, Graeme C.M., DPhil

Volltext

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes von Ramsden, Simon C, Clayton-Smith, Jill, Birch, Rachael, Buiting, Karin

Volltext

Molecular findings from 537 individuals with inherited retinal disease von Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M

Volltext

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease von O'Sullivan, James, Mullaney, Brendan G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Hall, Georgina, O'Grady, Anna, Webster, Andrew, Ramsden, Simon C, Black, Graeme C

Volltext

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa von Fischer, M. Dominik, McClements, Michelle E., Martinez-Fernandez de la Camara, Cristina, Bellingrath, Julia-Sophia, Dauletbekov, Daniyar, Ramsden, Simon C., Hickey, Doron G., Barnard, Alun R., MacLaren, Robert E.

Volltext

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease von Taylor, Rachel L., PhD, Parry, Neil R.A., PhD, Barton, Stephanie J., BSc, Campbell, Christopher, BSc, Delaney, Claire M., MSc, Ellingford, Jamie M., MRes, Hall, Georgina, MSc, Hardcastle, Claire, BSc, Morarji, Jiten, MSc, BMBS, Nichol, Elisabeth J., DBO, Williams, Lindsi C., DBO, Douzgou, Sofia, PhD, MD, Clayton-Smith, Jill, MD(Res), FRCP, Ramsden, Simon C., PhD, FRCPath, Sharma, Vinod, FRCOphth, Biswas, Susmito, FRCOphth, Lloyd, I. Chris, FRCOphth, Ashworth, Jane L., PhD, FRCOphth, Black, Graeme C., DPhil, FRCOphth, Sergouniotis, Panagiotis I., PhD, FEBO

Volltext

Recommendations for clinical interpretation of variants found in non-coding regions of the genome von Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R, Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G, O'Donnell-Luria, Anne, Ramsden, Simon C, Rehm, Heidi L, Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C, Williams, Maggie, Wood, Jordan C, Wright, Caroline F, Harrison, Steven M, Whiffin, Nicola

Volltext

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene von Andhika, Nadya S, Biswas, Susmito, Hardcastle, Claire, Green, David J, Ramsden, Simon C, Birney, Ewan, Black, Graeme C, Sergouniotis, Panagiotis I

Volltext

Validation of copy number variation analysis for next-generation sequencing diagnostics von Ellingford, Jamie M, Campbell, Christopher, Barton, Stephanie, Bhaskar, Sanjeev, Gupta, Saurabh, Taylor, Rachel L, Sergouniotis, Panagiotis I, Horn, Bradley, Lamb, Janine A, Michaelides, Michel, Webster, Andrew R, Newman, William G, Panda, Binay, Ramsden, Simon C, Black, Graeme Cm

Volltext

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias von Briggs, Michael D, Brock, Joanne, Ramsden, Simon C, Bell, Peter A

Volltext

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease von Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.

Volltext

Clinical and genetic variability in children with partial albinism von Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.

Volltext

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome von Ellingford, Jamie M, MRes, Sergouniotis, Panagiotis I, PhD, Lennon, Rachel, PhD, Bhaskar, Sanjeev, MSc, Williams, Simon G, PhD, Hillman, Kate A, PhD, O'Sullivan, James, BSc, Hall, Georgina, MSc, Ramsden, Simon C, PhD, Lloyd, I Christopher, Prof, Woolf, Adrian S, Prof, Black, Graeme C M, Prof

Volltext

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods von McKnight, Dianalee, Bean, Lora, Karbassi, Izabela, Beattie, Katelynn, Bienvenu, Thierry, Bonin, Hope, Fang, Ping, Chrisodoulou, John, Friez, Michael, Helgeson, Maria, Krishnaraj, Rahul, Meng, Linyan, Mighion, Lindsey, Neul, Jeffrey, Percy, Alan, Ramsden, Simon, Zoghbi, Huda, Das, Soma

Volltext

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders von Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.

Volltext

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing von Gillespie, Rachel L., MSc, O’Sullivan, James, BSc, Ashworth, Jane, FRCOphth, Bhaskar, Sanjeev, MSc, Williams, Simon, PhD, Biswas, Susmito, FRCOphth, Kehdi, Elias, FRANZCO, Ramsden, Simon C., FRCPath, Clayton-Smith, Jill, FRCP, Black, Graeme C., DPhil, FRCOphth, Lloyd, I. Christopher, FRCOphth

Volltext

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype von Hull, Sarah, Arno, Gavin, Plagnol, Vincent, Chamney, Sarah, Russell-Eggitt, Isabelle, Thompson, Dorothy, Ramsden, Simon C, Black, Graeme C M, Robson, Anthony G, Holder, Graham E, Moore, Anthony T, Webster, Andrew R

Volltext

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa von Bellingrath, Julia-Sophia, Ochakovski, G Alex, Seitz, Immanuel P, Kohl, Susanne, Zrenner, Eberhart, Hanig, Nicola, Prokisch, Holger, Weber, Bernhard H, Downes, Susan M, Ramsden, Simon, MacLaren, Robert E, Fischer, M Dominik

Volltext