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

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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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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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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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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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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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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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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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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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Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes von Stouffer, Kaitlin, Nahorski, Michael, Moreno, Pablo, Sarveswaran, Nivedita, Menon, David, Lee, Michael, Geoffrey Woods, C

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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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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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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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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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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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Letter: Further nuanced data on the role of P2RX7 SNPs in chronic pain states von Shaikh, Samiha, Nahorski, Michael, Pamela, Yunisa, Shenker, Nicholas, Bryant, Clare, Woods, Christopher Geoffrey

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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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