Despite genetic isolation in sympatry, post-copulatory reproductive barriers have not evolved between bat- and human-associated common bedbugs (Cimex lectularius L.) von Sasínková, Markéta, Balvín, OndÅej, Vandrovcová, Jana, Massino, Christian, Weig, Alfons R, Reinhardt, Klaus, Otti, Oliver, Bartonicka, TomáÅ

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

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Applying genomic and transcriptomic advances to mitochondrial medicine von Macken, William L., Vandrovcova, Jana, Hanna, Michael G., Pitceathly, Robert D. S.

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Prevalence of familial cluster headache: a systematic review and meta-analysis von O’Connor, Emer, Simpson, Benjamin S., Houlden, Henry, Vandrovcova, Jana, Matharu, Manjit

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GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy von Yau, Wai Yan, Sullivan, Roisin, Chen, Zhongbo, Lynch, David S., Vandrovcova, Jana, Wood, Nicholas W., Houlden, Henry

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project von Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna

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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders von Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A, Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Houlden, Henry

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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies von TRABZUNI, Daniah, WRAY, Selina, AREPALLI, Sampath, SINGLETON, Andrew B, COOKSON, Mark R, PITTMAN, Alan M, DE SILVA, Rohan, WEALE, Michael E, HARDY, John, RYTEN, Mina, VANDROVCOVA, Jana, RAMASAMY, Adaikalavan, WALKER, Robert, SMITH, Colin, LUK, Connie, RAPHAEL GIBBS, J, DILLMAN, Allissa, HERNANDEZ, Dena G

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement von Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Aleck, Kirk, Banki, Zoltan, Dudas, Joszef, Dumfahrt, Herbert, Haririan, Hady, Hartsfield, James K., Kagen, Charles N., Lindert, Uschi, Meitinger, Thomas, Posch, Wilfried, Pritz, Christian, Ross, David, Schroer, Richard J., Wick, Georg, Wildin, Robert, Wilflingseder, Doris, Byers, Peter H., Zschocke, Johannes

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases von Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally von D’Sa, Karishma, Guelfi, Sebastian, Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Hardy, John, Botía, Juan A., Weale, Michael E., Taliun, Sarah A. Gagliano, Small, Kerrin S., Ryten, Mina

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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information von Guelfi, Sebastian, D’Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Small, Kerrin S., Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael E., Ryten, Mina

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study von Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C, van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W, Patel, Krutik, Fassad, Mahmoud R, Vandrovcova, Jana, Wanders, Ronald J A, van der Westhuizen, Francois H

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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage von Chen, Zhongbo, Zhang, David, Reynolds, Regina H., Gustavsson, Emil K., García-Ruiz, Sonia, D’Sa, Karishma, Fairbrother-Browne, Aine, Vandrovcova, Jana, Hardy, John, Houlden, Henry, Gagliano Taliun, Sarah A., Botía, Juan, Ryten, Mina

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) von Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome von Weerakkody, Ruwan A., Vandrovcova, Jana, Kanonidou, Christina, Mueller, Michael, Gampawar, Piyush, Ibrahim, Yousef, Norsworthy, Penny, Biggs, Jennifer, Abdullah, Abdulshakur, Ross, David, Black, Holly A., Ferguson, David, Cheshire, Nicholas J., Kazkaz, Hanadi, Grahame, Rodney, Ghali, Neeti, Vandersteen, Anthony, Pope, F. Michael, Aitman, Timothy J.

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Solving unsolved rare neurological diseases-a Solve-RD viewpoint von Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E, Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia von Mahungu, Amokelani C, Steyn, Elizabeth, Floudiotis, Niki, Wilson, Lindsay A, Vandrovcova, Jana, Reilly, Mary M, Record, Christopher J, Benatar, Michael, Wu, Gang, Raga, Sharika, Wilmshurst, Jo M, Naidu, Kireshnee, Hanna, Michael, Nel, Melissa, Heckmann, Jeannine M

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The South Asian genome von Chambers, John C, Abbott, James, Zhang, Weihua, Turro, Ernest, Scott, William R, Tan, Sian-Tsung, Afzal, Uzma, Afaq, Saima, Loh, Marie, Lehne, Benjamin, O'Reilly, Paul, Gaulton, Kyle J, Pearson, Richard D, Li, Xinzhong, Lavery, Anita, Vandrovcova, Jana, Wass, Mark N, Miller, Kathryn, Sehmi, Joban, Oozageer, Laticia, Kooner, Ishminder K, Al-Hussaini, Abtehale, Mills, Rebecca, Grewal, Jagvir, Panoulas, Vasileios, Lewin, Alexandra M, Northwood, Korrinne, Wander, Gurpreet S, Geoghegan, Frank, Li, Yingrui, Wang, Jun, Aitman, Timothy J, McCarthy, Mark I, Scott, James, Butcher, Sarah, Elliott, Paul, Kooner, Jaspal S

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint von Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida

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