Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Por Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya
Publicado no Hum Genome Var (2019)

The use of whole-exome sequencing to disentangle complex phenotypes

Por Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Publicado no Eur J Hum Genet (2016)

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B(6)

Por Reid, Emma S., Williams, Hywel, Stabej, Polona Le Quesne, James, Chela, Ocaka, Louise, Bacchelli, Chiara, Footitt, Emma J., Boyd, Stewart, Cleary, Maureen A., Mills, Philippa B., Clayton, Peter T.
Publicado no JIMD Rep (2015)

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Por Lehmann, Ordan J., Ebenezer, Neil D., Jordan, Tim, Fox, Margaret, Ocaka, Louise, Payne, Annette, Leroy, Bart P., Clark, Brian J., Hitchings, Roger A., Povey, Sue, Khaw, Peng T., Bhattacharya, Shomi S.
Publicado em 2000

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 no Orphanet J Rare Dis (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 no Eur J Hum Genet (2016)

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

Por Munye, Mustafa M., Diaz-Font, Anna, Ocaka, Louise, Henriksen, Maiken L., Lees, Melissa, Brady, Angela, Jenkins, Dagan, Morton, Jenny, Hansen, Soren W., Bacchelli, Chiara, Beales, Philip L., Hernandez-Hernandez, Victor
Publicado no PLoS Genet (2017)

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Por Reid, Emma S., Williams, Hywel, Anderson, Glenn, Benatti, Malika, Chong, Kling, James, Chela, Ocaka, Louise, Hemingway, Cheryl, Little, Daniel, Brown, Richard, Parker, Alasdair, Holden, Simon, Footitt, Emma, Rahman, Shamima, Gissen, Paul, Mills, Philippa B., Clayton, Peter T.
Publicado no J Inherit Metab Dis (2017)

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis

Por Gregory, Louise C, Shah, Pratik, Sanner, Juliane R F, Arancibia, Monica, Hurst, Jane, Jones, Wendy D, Spoudeas, Helen, Le Quesne Stabej, Polona, Williams, Hywel J, Ocaka, Louise A, Loureiro, Carolina, Martinez-Aguayo, Alejandro, Dattani, Mehul T
Publicado no J Clin Endocrinol Metab (2019)

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 no J Med Genet (2018)

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Por Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Publicado no J Med Genet (2015)

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Por Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Publicado no Am J Hum Genet (2014)

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Por Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Publicado no Am J Hum Genet (2015)

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Por Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K., Andreasson, Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramsear, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger, Bernd
Publicado no Hum Mutat (2013)

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Por Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.
Publicado no Am J Hum Genet (2017)