Lipid metabolic pathways converge in motor neuron degenerative diseases von Rickman, Olivia J., Baple, Emma L., Crosby, Andrew H.

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels von Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E., Leigh, Sarah, Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Smith, Katherine R., Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H., Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M.

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Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting von Robinson, Hannah K, Stals, Karen, Hill, Sue, Parrish, Andrew, Baple, Emma L

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS von Turnbull, Clare, Scott, Richard H, Thomas, Ellen, Jones, Louise, Murugaesu, Nirupa, Pretty, Freya Boardman, Halai, Dina, Baple, Emma, Craig, Clare, Hamblin, Angela, Henderson, Shirley, Patch, Christine, O’Neill, Amanda, Devereaux, Andrew, Smith, Katherine, Martin, Antonio Rueda, Sosinsky, Alona, McDonagh, Ellen M, Sultana, Razvan, Mueller, Michael, Smedley, Damian, Toms, Adam, Dinh, Lisa, Fowler, Tom, Bale, Mark, Hubbard, Tim, Rendon, Augusto, Hill, Sue, Caulfield, Mark J

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No association between SCN9A and monogenic human epilepsy disorders von Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Schwoerer, Jessica Scott, Cross, Harold E., Crosby, Andrew H., Baple, Emma L.

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder von 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.

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A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome von Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q Y, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H

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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases von Baple, Emma L., Scott, Richard H., Banka, Siddharth, Buchanan, James, Fish, Louise, Wynn, Sarah, Wilkinson, Dominic, Ellard, Sian, MacArthur, Daniel G., Stark, Zornitza

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HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress von Sala-Gaston, Joan, Pedrazza, Leonardo, Ramirez, Juanma, Martinez-Martinez, Arturo, Rawlins, Lettie E., Baple, Emma L., Crosby, Andrew H., Mayor, Ugo, Ventura, Francesc, Rosa, Jose Luis

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Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan von Ahmed, Asif Naveed, Rawlins, Lettie E, Khan, Niamat, Jan, Zakir, Ubeyratna, Nishanka, Voutsina, Nikol, Azeem, Arfa, Khan, Saadullah, Baple, Emma L, Crosby, Andrew H, Saleha, Shamim

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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families von Azeem, Arfa, Ahmed, Asif Naveed, Khan, Niamat, Voutsina, Nikol, Ullah, Irfan, Ubeyratna, Nishanka, Yasin, Muhammad, Baple, Emma L, Crosby, Andrew H, Rawlins, Lettie E, Saleha, Shamim

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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures von Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis von HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia von 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

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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis von Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H

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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families von Khan, Jahangir, Asif, Saaim, Ghani, Shamsul, Khan, Hamid, Arshad, Muhammad Waqar, Khan, Shujaat Ali, Lin, Siying, Baple, Emma L, Salter, Claire, Crosby, Andrew H, Rawlins, Lettie, Shabbir, Muhammad Imran

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Hypomorphic PCNA mutation underlies a human DNA repair disorder von Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M, Crosby, Andrew H

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia von Rawlins, Lettie E, Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V, Chioza, Barry A, Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H, Baple, Emma L

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Reply: PRUNE1: a disease-causing gene for secondary microcephaly von Baple, Emma L, Houlden, Henry, Zollo, Massimo, Crosby, Andrew H

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Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families von Khan, Shazia, Rawlins, Lettie E, Harlalka, Gaurav V, Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L, Crosby, Andrew H, Ahmad, Wasim, Gul, Asma

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