Metabolomic, transcriptomic and genetic integrative analysis reveals important roles of adenosine diphosphate in haemostasis and platelet activation in non‐small‐cell lung cancer
Hoang, Long T., Domingo‐Sabugo, Clara, Starren, Elizabeth S., Willis‐Owen, Saffron A.G., Morris‐Rosendahl, Deborah J., Nicholson, Andrew G., Cookson, William O. C. M., Moffatt, Miriam F.
Published in Molecular oncology (01.11.2019)
Published in Molecular oncology (01.11.2019)
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Journal Article
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Journal Article
Author Correction: Integrated genomics point to immune vulnerabilities in pleural mesothelioma
Nastase, Anca, Mandal, Amit, Lu, Shir Kiong, Anbunathan, Hima, Morris‑Rosendahl, Deborah, Zhang, Yu Zhi, Sun, Xiao‑Ming, Gennatas, Spyridon, Rintoul, Robert C., Edwards, Matthew, Bowman, Alex, Chernova, Tatyana, Benepal, Tim, Lim, Eric, Taylor, Anthony Newman, Nicholson, Andrew G., Popat, Sanjay, Willis, Anne E., MacFarlane, Marion, Lathrop, Mark, Bowcock, Anne M., Moffatt, Miriam F., Cookson, William O. C. M.
Published in Scientific reports (21.03.2022)
Published in Scientific reports (21.03.2022)
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Journal Article
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
Whiffin, Nicola, Walsh, Roddy, Govind, Risha, Edwards, Matthew, Ahmad, Mian, Zhang, Xiaolei, Tayal, Upasana, Buchan, Rachel, Midwinter, William, Wilk, Alicja E, Najgebauer, Hanna, Francis, Catherine, Wilkinson, Sam, Monk, Thomas, Brett, Laura, O’Regan, Declan P, Prasad, Sanjay K, Morris-Rosendahl, Deborah J, Barton, Paul J R, Edwards, Elizabeth, Ware, James S, Cook, Stuart A
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
Neurodevelopmental disorders-the history and future of a diagnostic concept
Morris-Rosendahl, Deborah J., Crocq, Marc-Antoine
Published in Dialogues in clinical neuroscience (01.03.2020)
Published in Dialogues in clinical neuroscience (01.03.2020)
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Journal Article
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis
Erdélyi, László S., Alexander Mann, W., Morris-Rosendahl, Deborah J., Groß, Ute, Nagel, Mato, Várnai, Péter, Balla, András, Hunyady, László
Published in Kidney international (01.11.2015)
Published in Kidney international (01.11.2015)
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Journal Article
Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
Poulton, Cathryn J., Schot, Rachel, Seufert, Katja, Lequin, Maarten H., Accogli, Andrea, Annunzio, Giuseppe D', Villard, Laurent, Philip, Nicole, de Coo, René, Catsman-Berrevoets, Coriene, Grasshoff, Ute, Kattentidt-Mouravieva, Anja, Calf, Hans, de Vreugt-Gronloh, Erika, van Unen, Leontine, Verheijen, Frans W., Galjart, Niels, Morris-Rosendahl, Deborah J., Mancini, Grazia M. S.
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Journal Article
Microdeletion 5q14.3 and anomalies of brain development
Hotz, Alrun, Hellenbroich, Yorck, Sperner, Jürgen, Linder-Lucht, Michaela, Tacke, Uta, Walter, Caren, Caliebe, Almuth, Nagel, Inga, Saunders, Dawn E., Wolff, Gerhard, Martin, Peter, Morris-Rosendahl, Deborah J.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Journal Article
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Nöthe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhán B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmüller, Janine, Krenz, Henrike, Wöste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J., Omran, Heymut
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
The role of genetics and genomics in clinical psychiatry
Hoehe, Margret R., Morris-Rosendahl, Deborah J.
Published in Dialogues in clinical neuroscience (01.09.2018)
Published in Dialogues in clinical neuroscience (01.09.2018)
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Journal Article
Filamin A mutation is one cause of FG syndrome
Unger, Sheila, Mainberger, Anita, Spitz, Christian, Bähr, Anna, Zeschnigk, Christine, Zabel, Bernhard, Superti‐Furga, Andrea, Morris‐Rosendahl, Deborah J.
Published in American journal of medical genetics. Part A (15.08.2007)
Published in American journal of medical genetics. Part A (15.08.2007)
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Journal Article
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary
Mokánszki, Attila, Körhegyi, Ivett, Szabó, Nóra, Bereg, Edit, Gergev, Gyurgyinka, Balogh, Erzsébet, Bessenyei, Beáta, Sümegi, Andrea, Morris-Rosendahl, Deborah J, Sztriha, László, Oláh, Eva
Published in Journal of child neurology (01.12.2012)
Published in Journal of child neurology (01.12.2012)
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Journal Article
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
Hayesmoore, Jesse B, Bhuiyan, Zahurul A, Coviello, Domenico A, du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J, Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Journal Article
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L, Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J, Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian
Published in Genome research (01.02.2015)
Published in Genome research (01.02.2015)
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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P, Griffin, Paul, Muller, Steven, Carr, Siobhan B, Loebinger, Michael R, Lucas, Jane S, Shah, Anand, Jose, Ricardo, Mitchison, Hannah M, Shoemark, Amelia, Miller, Danny E, Morris-Rosendahl, Deborah J
Published in European journal of human genetics : EJHG (11.04.2024)
Published in European journal of human genetics : EJHG (11.04.2024)
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