New macular findings in individuals with biallelic KLHL7 gene mutation

Autor Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda
Vydáno v BMJ Open Ophthalmol (2019)

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Autor Richardson, Ruth, Splitt, Miranda, Newbury-Ecob, Ruth, Hulbert, Alice, Kennedy, Joanna, Weber, Astrid
Vydáno v Eur J Hum Genet (2018)

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

Autor Sellick, Gabrielle S., Longman, Cheryl, Tolmie, John, Newbury-Ecob, Ruth, Geenhalgh, Lynn, Hughes, Simon, Whiteford, Margo, Garrett, Christine, Houlston, Richard S.
Vydáno 2004

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation

Autor Sulaiman, Fatima A., Nishimoto, Satoko, Murphy, George R. F., Kucharska, Anna, Butterfield, Natalie C., Newbury-Ecob, Ruth, Logan, Malcolm P. O.
Vydáno v PLoS Genet (2016)

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Autor Weedon, Michael N., Hastings, Robert, Caswell, Richard, Xie, Weijia, Paszkiewicz, Konrad, Antoniadi, Thalia, Williams, Maggie, King, Cath, Greenhalgh, Lynn, Newbury-Ecob, Ruth, Ellard, Sian
Vydáno 2011

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Autor Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth
Vydáno 2012

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

Autor Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J., Ganesan, Vijeya, Brogan, Paul A., Eleftheriou, Despina
Vydáno v Neurol Genet (2020)

Neutropenia in Barth syndrome: characteristics, risks and management

Autor Steward, Colin G., Groves, Sarah J., Taylor, Carolyn T., Maisenbacher, Melissa K., Versluys, Birgitta, Newbury-Ecob, Ruth A., Ozsahin, Hulya, Damin, Michaela K., Bowen, Valerie M., McCurdy, Katherine R., Mackey, Michael C., Bolyard, Audrey A., Dale, David C.
Vydáno v Curr Opin Hematol (2019)

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Autor Klopocki, Eva , Schulze, Harald , Strauß, Gabriele , Ott, Claus-Eric , Hall, Judith , Trotier, Fabienne , Fleischhauer, Silke , Greenhalgh, Lynn , Newbury-Ecob, Ruth A. , Neumann, Luitgard M. , Habenicht, Rolf , König, Rainer , Seemanova, Eva , Megarbane, André , Ropers, Hans-Hilger , Ullmann, Reinhard , Horn, Denise , Mundlos, Stefan 
Vydáno 2007

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Autor McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
Vydáno v Brain (2020)

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

Autor Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
Vydáno v J Med Genet (2023)

Barth syndrome

Autor Clarke Sarah LN, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G
Vydáno 2013-02-01

Barth syndrome

Autor Clarke, Sarah LN, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Vydáno 2013

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Autor Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark
Vydáno v Am J Hum Genet (2019)

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Autor Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth
Vydáno 2011

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Autor Jalali, Ali, Aldinger, Kimberly A., Chary, Ajit, Mclone, David G., Bowman, Robin M., Le, Luan Cong, Jardine, Phillip, Newbury-Ecob, Ruth, Mallick, Andrew, Jafari, Nadereh, Russell, Eric J., Curran, John, Nguyen, Pam, Ouahchi, Karim, Lee, Charles, Dobyns, William B., Millen, Kathleen J., Pina-Neto, Joao M., Kessler, John A., Bassuk, Alexander G.
Vydáno 2008

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Autor Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Vydáno v J Med Genet (2018)

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Autor Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Vydáno v Clin Genet (2019)

Clinical and genetic aspects of KBG syndrome

Autor Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton‐Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury‐Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah
Vydáno v Am J Med Genet A (2016)

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Autor Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.
Vydáno v Genome Res (2019)