Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic

por Brown, Elizabeth G., Watts, Isabella, Beales, Emily R., Maudhoo, Ashwini, Hayward, Judith, Sheridan, Eamonn, Rafi, Imran
Publicado 2021

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

por Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A
Publicado 2021

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

por Péron, Sophie, Metin, Ayse, Gardès, Pauline, Alyanakian, Marie-Alexandra, Sheridan, Eamonn, Kratz, Christian Peter, Fischer, Alain, Durandy, Anne
Publicado 2008

Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkage

por Bishop, Chrissy, Small, Neil, Mason, Dan, Corry, Peter, Wright, John, Parslow, Roger C, Bittles, Alan H, Sheridan, Eamonn
Publicado 2017

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

por Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Publicado 2016

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

por Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Publicado 2016

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

por Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.
Publicado 2019

Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme

por Tejeda, Gonzalo S., Whiteley, Ellanor L., Deeb, Tarek Z., Bürli, Roland W., Moss, Stephen J., Sheridan, Eamonn, Brandon, Nicholas J., Baillie, George S.
Publicado 2020

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

por Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey
Publicado 2016

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

por Al-Araimi, Musallam, Pal, Bishwanath, Poulter, James A., van Genderen, Maria M., Carr, Ian, Cudrnak, Tomas, Brown, Lawrence, Sheridan, Eamonn, Mohamed, Moin D., Bradbury, John, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Publicado 2013

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

por Watson, Christopher M, Crinnion, Laura A, Morgan, Joanne E, Harrison, Sally M, Diggle, Christine P, Adlard, Julian, Lindsay, Helen A, Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T, Taylor, Graham R, Carr, Ian M
Publicado 2014

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

por Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Publicado 2014

Fine-scale population structure and demographic history of British Pakistanis

por Arciero, Elena, Dogra, Sufyan A., Malawsky, Daniel S., Mezzavilla, Massimo, Tsismentzoglou, Theofanis, Huang, Qin Qin, Hunt, Karen A., Mason, Dan, Sharif, Saghira Malik, van Heel, David A., Sheridan, Eamonn, Wright, John, Small, Neil, Carmi, Shai, Iles, Mark M., Martin, Hilary C.
Publicado 2021

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

por Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Publicado 2015

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

por Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Publicado 2015

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

por Diggle, Christine P., Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H., White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E., Carr, Ian M., Watson, Christopher M., Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P. Louise, Markham, Alexander F., Dear, T. Neil, Bonthron, David T., Peckham, Michelle, Morrison, Ewan E., Sheridan, Eamonn
Publicado 2017

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

por Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Publicado 2012

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

por Kiss, Robert S., Chicoine, Jarred, Khalil, Youssef, Sladek, Robert, Chen, He, Pisaturo, Alessandro, Martin, Cyril, Dale, Jessica D., Brudenell, Tegan A., Kamath, Archith, Kyei-Boahen, Jeffrey, Hafiane, Anouar, Daliah, Girija, Alecki, Célia, Hopes, Tayah S., Heier, Martin, Aligianis, Irene A., Lebrun, Jean-Jacques, Aspden, Julie, Paci, Emanuele, Kerksiek, Anja, Lütjohann, Dieter, Clayton, Peter, Wills, Jimi C., von Kriegsheim, Alex, Nilsson, Tommy, Sheridan, Eamonn, Handley, Mark T.
Publicado 2023

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

por Diggle, Christine P., Moore, Daniel J., Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R., Gautier, Philippe, Yeyati, Patricia L., Bonthron, David T., Carr, Ian M., Hayward, Bruce, Markham, Alexander F., Hope, Jilly E., von Kriegsheim, Alex, Mitchison, Hannah M., Jackson, Ian J., Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P., Mill, Pleasantine
Publicado 2014

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

por Panizzi, Jennifer R., Becker-Heck, Anita, Castleman, Victoria H., Al-Mutairi, Dalal, Liu, Yan, Loges, Niki T., Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D., Schier, Alexander F., O’Callaghan, Christopher, Chung, Eddie MK, Reinhardt, Richard, Mitchison, Hannah M., King, Stephen M., Omran, Heymut, Drummond, Iain A.
Publicado 2012