Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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An SCN9A channelopathy causes congenital inability to experience pain
Reimann, Frank, McHale, Duncan P, Valente, Enza Maria, Jafri, Hussain, Al-Gazali, Lihadh, Gribble, Fiona M, Thornton, Gemma, Gorman, Shaun, Williams, Richard, Wood, John N, Nicholas, Adeline K, Roberts, Emma, Mannan, Jovaria, Springell, Kelly, Woods, C. Geoffrey, Cox, James J, Raashid, Yasmin, Karbani, Gulshan, Hamamy, Henan
Published in Nature (14.12.2006)
Published in Nature (14.12.2006)
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A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
Chavali, Pavithra L., Chandrasekaran, Gayathri, Barr, Alexis R., Tátrai, Péter, Taylor, Chris, Papachristou, Evaggelia K., Woods, C. Geoffrey, Chavali, Sreenivas, Gergely, Fanni
Published in Nature communications (18.03.2016)
Published in Nature communications (18.03.2016)
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Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes
Stouffer, Kaitlin, Nahorski, Michael, Moreno, Pablo, Sarveswaran, Nivedita, Menon, David, Lee, Michael, Geoffrey Woods, C
Published in BMC genomics (04.12.2017)
Published in BMC genomics (04.12.2017)
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Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations
Emery, Edward C, Habib, Abdella M, Cox, James J, Nicholas, Adeline K, Gribble, Fiona M, Woods, C Geoffrey, Reimann, Frank
Published in The Journal of neuroscience (20.05.2015)
Published in The Journal of neuroscience (20.05.2015)
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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J, Rahman, Fatimah, Yates, John R W, Woods, C Geoffrey, Reik, Wolf, Maher, Eamonn R
Published in PLoS genetics (01.03.2009)
Published in PLoS genetics (01.03.2009)
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A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
Kremeyer, Barbara, Lopera, Francisco, Cox, James J., Momin, Aliakmal, Rugiero, Francois, Marsh, Steve, Woods, C. Geoffrey, Jones, Nicholas G., Paterson, Kathryn J., Fricker, Florence R., Villegas, Andrés, Acosta, Natalia, Pineda-Trujillo, Nicolás G., Ramírez, Juan Diego, Zea, Julián, Burley, Mari-Wyn, Bedoya, Gabriel, Bennett, David L.H., Wood, John N., Ruiz-Linares, Andrés
Published in Neuron (Cambridge, Mass.) (10.06.2010)
Published in Neuron (Cambridge, Mass.) (10.06.2010)
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Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA
Desiderio, Simon, Vermeiren, Simon, Van Campenhout, Claude, Kricha, Sadia, Malki, Elisa, Richts, Sven, Fletcher, Emily V., Vanwelden, Thomas, Schmidt, Bela Z., Henningfeld, Kristine A., Pieler, Tomas, Woods, C. Geoffrey, Nagy, Vanja, Verfaillie, Catherine, Bellefroid, Eric J.
Published in Cell reports (Cambridge) (26.03.2019)
Published in Cell reports (Cambridge) (26.03.2019)
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Pain perception is altered by a nucleotide polymorphism in SCN9A
Reimann, Frank, Cox, James J, Belfer, Inna, Diatchenko, Luda, Zaykin, Dmitri V, McHale, Duncan P, Drenth, Joost P.H, Dai, Feng, Wheeler, Jerry, Sanders, Frances, Wood, Linda, Wu, Tian-Xia, Karppinen, Jaro, Nikolajsen, Lone, Männikkö, Minna, Max, Mitchell B, Kiselycznyk, Carly, Poddar, Minakshi, te Morsche, Rene H.M, Smith, Shad, Gibson, Dustin, Kelempisioti, Anthi, Maixner, William, Gribble, Fiona M, Woods, C. Geoffrey
Published in Proceedings of the National Academy of Sciences - PNAS (16.03.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (16.03.2010)
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency
Bacchelli, Chiara, PhD, Moretti, Federico A., PhD, Carmo, Marlene, PhD, Adams, Stuart, PhD, Stanescu, Horia C., PhD, Pearce, Kerra, PhD, Madkaikar, Manisha, MD, PhD, Gilmour, Kimberly C., PhD, Nicholas, Adeline K., PhD, Woods, C. Geoffrey, MD, PhD, Kleta, Robert, MD, PhD, Beales, Phil L., MD, PhD, Qasim, Waseem, MD, PhD, Gaspar, H. Bobby, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
Murray, Jennie E., Bicknell, Louise S., Yigit, Gökhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nürnberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd, Jackson, Andrew P.
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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