Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development von 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

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Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit von Lee, Michael C., Nahorski, Michael S., Hockley, James R.F., Lu, Van B., Ison, Gillian, Pattison, Luke A., Callejo, Gerard, Stouffer, Kaitlin, Fletcher, Emily, Brown, Christopher, Drissi, Ichrak, Wheeler, Daniel, Ernfors, Patrik, Menon, David, Reimann, Frank, Smith, Ewan St. John, Woods, C. Geoffrey

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins von 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

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new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene von Lim, Derek H.K, Rehal, Pauline K, Nahorski, Michael S, Macdonald, Fiona, Claessens, Tijs, Van Geel, Michel, Gijezen, Lieke, Gille, Johan J.P, Giraud, Sophie, Richard, Stephane, van Steensel, Maurice, Menko, Fred H, Maher, Eamonn R

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Advancing Evidence Generation for Circulating Tumor DNA: Lessons Learned from A Multi-Assay Study of Baseline Circulating Tumor DNA Levels across Cancer Types and Stages von McKelvey, Brittany A, Andrews, Hillary S, Baehner, Frederick L, Chen, James, Espenschied, Carin R, Fabrizio, David, Gorton, Vanessa, Gould, Claire, Guinney, Justin, Jones, Greg, Lv, Xiangyang, Nahorski, Michael S, Palomares, Melanie R, Pestano, Gary A, Sausen, Mark, Silk, Alain, Zhang, Nicole, Zhang, Zhihong, Stewart, Mark D, Allen, Jeff D

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Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication von Chavali, Pavithra L., Stojic, Lovorka, Meredith, Luke W., Joseph, Nimesh, Nahorski, Michael S., Sanford, Thomas J., Sweeney, Trevor R., Krishna, Ben A., Hosmillo, Myra, Firth, Andrew E., Bayliss, Richard, Marcelis, Carlo L., Lindsay, Susan, Goodfellow, Ian, Woods, C. Geoffrey, Gergely, Fanni

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Therapeutic targeting the loss of the birt-hogg-dube suppressor gene von Lu, Xiaohong, Wei, Wenbin, Fenton, Janine, Nahorski, Michael S, Rabai, Erzsebet, Reiman, Anne, Seabra, Laurence, Nagy, Zsuzsanna, Latif, Farida, Maher, Eamonn R

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New Mendelian Disorders of Painlessness von Nahorski, Michael S, Chen, Ya-Chun, Woods, C. Geoffrey

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Before progressing from "exomes" to "genomes"… don't forget splicing variants von Shaikh, Samiha S, Nahorski, Michael S, Rai, Harjeet, Woods, C Geoffrey

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A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) von Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey

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A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development von Nahorski, Michael S, Al-Gazali, Lihadh, Hertecant, Jozef, Owen, David J, Borner, Georg H H, Chen, Ya-Chun, Benn, Caroline L, Carvalho, Ofélia P, Shaikh, Samiha S, Phelan, Anne, Robinson, Margaret S, Royle, Stephen J, Woods, C Geoffrey

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CCDC88A mutations cause PEHO-like syndrome in humans and mouse von Nahorski, Michael S, Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E, Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F, Takahashi, Masahide, Woods, C Geoffrey

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A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site von Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey

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Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis von NAHORSKI, Michael S, SEABRA, Laurence, MAHER, Eamonn R, STRAATMAN-LWANOWSKA, Ania, WINGENFELD, Aileen, REIMAN, Anne, XIAOHONG LU, KLOMP, Jeff A, TEH, Bin T, HATZFELD, Mechthild, GISSEN, Paul

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Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development von Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey

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Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer von Nahorski, Michael S, Lim, Derek H K, Martin, Lynn, Gille, Johan J P, McKay, Kirsten, Rehal, Pauline K, Ploeger, H Martijn, van Steensel, Maurice, Tomlinson, Ian P, Latif, Farida, Menko, Fred H, Maher, Eamonn R

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Gene Expression and Protein Array Studies of Folliculin-regulated Pathways von REIMAN, Anne, XIAOHONG LU, SEABRA, Laurence, BOORA, Uncaar, NAHORSKI, Michael S, WENBIN WEI, MAHER, Eamonn R

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Transcriptional regulator PRDM12 is essential for human pain perception von Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development von Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Begemann, Anaïs, Rauch, Anita

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Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K V 6.4 Subunit von Lee, Michael C, Nahorski, Michael S, Hockley, James R F, Lu, Van B, Ison, Gillian, Pattison, Luke A, Callejo, Gerard, Stouffer, Kaitlin, Fletcher, Emily, Brown, Christopher, Drissi, Ichrak, Wheeler, Daniel, Ernfors, Patrik, Menon, David, Reimann, Frank, Smith, Ewan St John, Woods, C Geoffrey

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