Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

por Rea, Gillian, Tirupathi, Sandya, Williams, Jonathan, Clouston, Penny, Morrison, Patrick J.
Publicado 2019

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy

por Nanda, Anika, Salvetti, Anna P., Clouston, Penny, Downes, Susan M., MacLaren, Robert E.
Publicado 2018

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

por Buckley, Thomas M.W., Cehajic-Kapetanovic, Jasmina, Shanks, Morag, Clouston, Penny, MacLaren, Robert E.
Publicado 2022

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

por Al-khuzaei, Saoud, Broadgate, Suzanne, Halford, Stephanie, Jolly, Jasleen K., Shanks, Morag, Clouston, Penny, Downes, Susan M.
Publicado 2020

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

por Kirkby, Jennifer, Halford, Stephanie, Shanks, Morag, Moore, Anthony, Gait, Anthony, Jenkins, Lucy, Clouston, Penny, Patel, Chetan K., Downes, Susan M.
Publicado 2023

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

por Colella, Stefano, Yau, Christopher, Taylor, Jennifer M., Mirza, Ghazala, Butler, Helen, Clouston, Penny, Bassett, Anne S., Seller, Anneke, Holmes, Christopher C., Ragoussis, Jiannis
Publicado 2007

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

por Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Publicado 2021

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

por Cehajic-Kapetanovic, Jasmina, Birtel, Johannes, McClements, Michelle E., Shanks, Morag E., Clouston, Penny, Downes, Susan M., Charbel Issa, Peter, MacLaren, Robert E.
Publicado 2019

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

por Downes, Susan M., Nguyen, Tham, Tai, Vicky, Broadgate, Suzanne, Shah, Mital, Al-Khuzaei, Saoud, MacLaren, Robert E., Shanks, Morag, Clouston, Penny, Halford, Stephanie
Publicado 2020

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

por Feenstra, Helena M., Al-Khuzaei, Saoud, Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Kamath, Archith, Yu, Jing, Jolly, Jasleen K., MacLaren, Robert E., Clouston, Penny, Halford, Stephanie, Downes, Susan M.
Publicado 2022

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

por McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Publicado 2016

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

por Bernkopf, Marie, Abdullah, Ummi B., Bush, Stephen J., Wood, Katherine A., Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J., Thibaut, Loïc M., Williams, Jonathan, Blair, Edward M., Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T., Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A., Johnson, Diana, Jones, Wendy D., Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M., Leitch, Harry G., Morton, Jenny E. V., Németh, Andrea H., Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J., Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W., Wilkie, Andrew O. M., Goriely, Anne
Publicado 2023