EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

por Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria
Publicado 2013

Gentamicin, genetic variation and deafness in preterm children

por Bitner-Glindzicz, Maria, Rahman, Shamima, Chant, Kathy, Marlow, Neil
Publicado 2014

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study

por Hall, Amanda, Pembrey, Marcus, Lutman, Mark, Steer, Colin, Bitner-Glindzicz, Maria
Publicado 2012

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

por Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria
Publicado 2013

Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

por Sanderson, Saskia C., Lewis, Celine, Patch, Christine, Hill, Melissa, Bitner-Glindzicz, Maria, Chitty, Lyn S.
Publicado 2018

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

por Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno
Publicado 2007

Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

por O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria
Publicado 2015

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution

por Leong, Yeh Chwan, Di Foggia, Valentina, Pramod, Hema, Bitner-Glindzicz, Maria, Patel, Aara, Sowden, Jane C.
Publicado 2022

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

por Linden Phillips, Luan, Bitner-Glindzicz, Maria, Lench, Nicholas, Steel, Karen P., Langford, Cordelia, Dawson, Sally J., Davis, Adrian, Simpson, Sue, Packer, Claire
Publicado 2013

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

por Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria
Publicado 2012

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

por Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria
Publicado 2013

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

por Pauzuolyte, Valda, Patel, Aara, Wawrzynski, James R, Ingham, Neil J, Leong, Yeh Chwan, Karda, Rajvinder, Bitner‐Glindzicz, Maria, Berger, Wolfgang, Waddington, Simon N, Steel, Karen P, Sowden, Jane C
Publicado 2023

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

por Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Publicado 2017

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

por Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria
Publicado 2019

STAG3 truncating variant as the cause of primary ovarian insufficiency

por Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S
Publicado 2016

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

por Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Publicado 2015

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

por Le Quesne Stabej, Polona, Saihan, Zubin, Rangesh, Nell, Steele-Stallard, Heather B, Ambrose, John, Coffey, Alison, Emmerson, Jenny, Haralambous, Elene, Hughes, Yasmin, Steel, Karen P, Luxon, Linda M, Webster, Andrew R, Bitner-Glindzicz, Maria
Publicado 2011

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

por Toms, Maria, Dubis, Adam M, de Vrieze, Erik, Tracey-White, Dhani, Mitsios, Andreas, Hayes, Matthew, Broekman, Sanne, Baxendale, Sarah, Utoomprurkporn, Nattawan, Bamiou, Doris, Bitner-Glindzicz, Maria, Webster, Andrew R, Van Wijk, Erwin, Moosajee, Mariya
Publicado 2020

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

por Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.
Publicado 2014

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

por Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J
Publicado 2018