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

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

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

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

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

por McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S
Publicado 2021

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

Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient

por Robb, Tamsin J., Tsai, Peter, Fitzgerald, Sandra, Shields, Paula, Houseman, Pascalene S., Patel, Rachna, Fan, Vicky, Curran, Ben, Tse, Rexson, Ting, Jacklyn, Kramer, Nicole, Woodhouse, Braden J., Coats, Esther, Le Quesne Stabej, Polona, Reeve, Jane, Parker, Kate, Lawrence, Ben, Blenkiron, Cherie, Print, Cristin G.
Publicado 2023

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

por Whittaker, Danielle E., Oleari, Roberto, Gregory, Louise C., Le Quesne-Stabej, Polona, Williams, Hywel J., Torpiano, John G., Formosa, Nancy, Cachia, Mario J., Field, Daniel, Lettieri, Antonella, Ocaka, Louise A., Paganoni, Alyssa J.J., Rajabali, Sakina H., Riegman, Kimberley L.H., De Martini, Lisa B., Chaya, Taro, Robinson, Iain C.A.F., Furukawa, Takahisa, Cariboni, Anna, Basson, M. Albert, Dattani, Mehul T.
Publicado 2021

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

por Akin, Leyla, Rizzoti, Karine, Gregory, Louise C, Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M, Martos-Moreno, Gabriel Á, Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T
Publicado 2022

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018