No association between SCN9A and monogenic human epilepsy disorders
Fasham, James, Leslie, Joseph S, Harrison, Jamie W, Deline, James, Williams, Katie B, Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E, Crosby, Andrew H, Baple, Emma L
Published in PLoS genetics (20.11.2020)
Published in PLoS genetics (20.11.2020)
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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
Ammous, Zineb, Rawlins, Lettie E, Jones, Hannah, Leslie, Joseph S, Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A, Ames, Ryan M, Cross, Harold E, Puffenberger, Erik G, Harries, Lorna, Baple, Emma L, Crosby, Andrew H
Published in PLoS genetics (27.09.2021)
Published in PLoS genetics (27.09.2021)
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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)
Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S, Williams, Katie B, Lee, Helena, Thomas, N Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J Arjuna, Baralle, Diana, Schmitt, Melanie A, Norman, Chelsea S, Hammond, Sheri, Harlalka, Gaurav V, Ennis, Sarah, Cross, Harold E, Wenger, Olivia, Crosby, Andrew H, Baple, Emma L, Self, Jay E
Published in Npj genomic medicine (13.01.2022)
Published in Npj genomic medicine (13.01.2022)
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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J, Leslie, Joseph S, Warner, Thomas T, Al-Hijawi, Fida', Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D, Baple, Emma L, Crosby, Andrew H
Published in Brain sciences (11.05.2021)
Published in Brain sciences (11.05.2021)
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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund R S, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L
Published in Brain (London, England : 1878) (14.09.2022)
Published in Brain (London, England : 1878) (14.09.2022)
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Journal Article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L
Published in Brain (London, England : 1878) (31.12.2021)
Published in Brain (London, England : 1878) (31.12.2021)
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Journal Article
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
Fasham, James, Huebner, Antje K, Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B, Leslie, Joseph S, Ubeyratna, Nishanka, Mancini, Grazia M S, van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B, Shamseldin, Hanan E, Gleeson, Joseph G, Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S, Wakeling, Matthew N, McGavin, Lucy, Turnpenny, Peter D, Alkuraya, Fowzan S, Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H, Baple, Emma L, Hübner, Christian A
Published in Brain (London, England : 1878) (02.11.2023)
Published in Brain (London, England : 1878) (02.11.2023)
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Journal Article
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
Lin, Siying, Fasham, James, Al-Hijawi, Fida', Qutob, Nouar, Gunning, Adam, Leslie, Joseph S, McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D, Crosby, Andrew H, Baple, Emma L, Khalaf-Nazzal, Reham
Published in European journal of human genetics : EJHG (01.10.2021)
Published in European journal of human genetics : EJHG (01.10.2021)
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Journal Article
MNS1 variant associated with situs inversus and male infertility
Leslie, Joseph S, Rawlins, Lettie E, Chioza, Barry A, Olubodun, Oluwaseun R, Salter, Claire G, Fasham, James, Jones, Hannah F, Cross, Harold E, Lam, Simon, Harlalka, Gaurav V, Muggenthaler, Martina M A, Crosby, Andrew H, Baple, Emma L
Published in European journal of human genetics : EJHG (01.01.2020)
Published in European journal of human genetics : EJHG (01.01.2020)
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Journal Article
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., Baple, Emma L.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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Journal Article
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Best, Sunayna, Yu, Jing, Lord, Jenny, Roche, Matthew, Watson, Christopher Mark, Bevers, Roel P J, Stuckey, Alex, Madhusudhan, Savita, Jewell, Rosalyn, Sisodiya, Sanjay M, Lin, Siying, Turner, Stephen, Robinson, Hannah, Leslie, Joseph S, Baple, Emma, Toomes, Carmel, Inglehearn, Chris, Wheway, Gabrielle, Johnson, Colin A, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, MA, Caulfield, MJ, Chan, GC, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O‘Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
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Journal Article
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Rickman, Olivia J., Salter, Claire G., Gunning, Adam C., Fasham, James, Voutsina, Nikol, Leslie, Joseph S., McGavin, Lucy, Cross, Harold E., Posey, Jennifer E., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Lupski, James R., Baple, Emma L., Crosby, Andrew H.
Published in Parkinsonism & related disorders (01.01.2021)
Published in Parkinsonism & related disorders (01.01.2021)
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Journal Article
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Rickman, Olivia J, Salter, Claire G, Gunning, Adam C, Fasham, James, Voutsina, Nikol, Leslie, Joseph S, McGavin, Lucy, Cross, Harold E, Posey, Jennifer E, Akdemir, Zeynep Coban, Jhangiani, Shalini N, Lupski, James R, Baple, Emma L, Crosby, Andrew H
Published in Parkinsonism & related disorders (01.01.2021)
Published in Parkinsonism & related disorders (01.01.2021)
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Compressed hair spray
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